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| RAB3 GTPase activating protein subunit 1 (catalytic) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | RAB3GAP1; DKFZp434A012; KIAA0066; P130; RAB3GAP; RAB3GAP130; WARBM1 | ||||||||||||
| External IDs | OMIM: 602536 MGI: 2445001 HomoloGene: 45617 GeneCards: RAB3GAP1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 22930 | 226407 | |||||||||||
| Ensembl | ENSG00000115839 | ENSMUSG00000036104 | |||||||||||
| UniProt | Q15042 | Q3TPB6 | |||||||||||
| RefSeq (mRNA) | NM_001172435.1 | NM_178690.4 | |||||||||||
| RefSeq (protein) | NP_001165906.1 | NP_848805.2 | |||||||||||
| Location (UCSC) | Chr 2: 135.81 – 135.93 Mb |
Chr 1: 129.77 – 129.84 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.[1][2][3]
[edit] See also
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][3]
[edit] References
- ^ Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y (Apr 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. doi:10.1074/jbc.272.8.4655. PMID 9030515.
- ^ Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Megarbane A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER (Mar 2005). "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome". Nat Genet 37 (3): 221–3. doi:10.1038/ng1517. PMID 15696165.
- ^ a b "Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=22930.
[edit] 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. doi:10.1093/dnares/1.5.223. 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.
- 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. doi:10.1074/jbc.273.38.24781. 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. doi:10.1074/jbc.273.51.34580. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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. doi:10.1046/j.1365-2443.2003.00655.x. 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. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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. PMC 1899111. PMID 17567985. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1899111.
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