RAB3GAP1
| RAB3 GTPase activating protein subunit 1 (catalytic) | |||||||||||
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| Identifiers | |||||||||||
| Symbols | RAB3GAP1 ; P130; DKFZp434A012; KIAA0066; RAB3GAP; RAB3GAP130; WARBM1 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 45617 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE RAB3GAP1 212932 at tn.png | |||||||||||
| File:PBB GE RAB3GAP1 213530 at tn.png | |||||||||||
| File:PBB GE RAB3GAP1 213531 s at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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RAB3 GTPase activating protein subunit 1 (catalytic), also known as RAB3GAP1, is a human gene.[1]
Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit and a 150-kD noncatalytic subunit (MIM 609275). RAB3GAP specifically converts active RAB3-GTP to the inactive form RAB3-GDP (Aligianis et al., 2005).[supplied by OMIM][1]
References
Further reading
- Nomura N, Nagase T, Miyajima N; et al. (1995). "Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 1 (5): 223–9. PMID 7584044.
- Warburg M, Sjö O, Fledelius HC, Pedersen SA (1994). "Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome". Am. J. Dis. Child. 147 (12): 1309–12. PMID 8249951.
- Fukui K, Sasaki T, Imazumi K; et al. (1997). "Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins". J. Biol. Chem. 272 (8): 4655–8. PMID 9030515.
- Nagano F, Sasaki T, Fukui K; et al. (1998). "Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein". J. Biol. Chem. 273 (38): 24781–5. PMID 9733780.
- Oishi H, Sasaki T, Nagano F; et al. (1999). "Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis". J. Biol. Chem. 273 (51): 34580–5. PMID 9852129.
- Rodríguez Criado G, Rufo M, Gómez de Terreros I (1999). "A second family with Micro syndrome". Clin. Dysmorphol. 8 (4): 241–5. PMID 10532171.
- Clabecq A, Henry JP, Darchen F (2000). "Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP". J. Biol. Chem. 275 (41): 31786–91. doi:10.1074/jbc.M003705200. PMID 10859313.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Kawabe H, Sakisaka T, Yasumi M; et al. (2004). "A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter". Genes Cells. 8 (6): 537–46. PMID 12786944.
- Cheviet S, Coppola T, Haynes LP; et al. (2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Mol. Endocrinol. 18 (1): 117–26. doi:10.1210/me.2003-0300. PMID 14593078.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Aligianis IA, Johnson CA, Gissen P; et al. (2005). "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome". Nat. Genet. 37 (3): 221–3. doi:10.1038/ng1517. PMID 15696165.
- Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Tsuritani K, Irie T, Yamashita R; et al. (2007). "Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes". Genome Res. 17 (7): 1005–14. doi:10.1101/gr.6030107. PMID 17567985.
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