RAB3GAP1

RAB3 GTPase activating protein subunit 1 (catalytic)
Identifiers
Symbols	RAB3GAP1 ; P130; RAB3GAP; RAB3GAP130; WARBM1
External IDs	OMIM: 602536 MGI: 2445001 HomoloGene: 45617 GeneCards: RAB3GAP1 Gene
Gene ontology Molecular function • GTPase activator activity • Rab guanyl-nucleotide exchange factor activity • Rab GTPase binding Cellular component • cytoplasm • Golgi apparatus • lipid particle • protein complex • extracellular exosome • endoplasmic reticulum tubular network Biological process • brain development • positive regulation of gene expression • hypothalamus development • lipid particle organization • camera-type eye development • regulation of GTPase activity • positive regulation of GTPase activity • regulation of short-term neuronal synaptic plasticity • excitatory postsynaptic potential • face morphogenesis • positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization • establishment of protein localization to endoplasmic reticulum membrane • positive regulation of protein lipidation • regulation of calcium ion-dependent exocytosis of neurotransmitter • positive regulation of endoplasmic reticulum tubular network organization • positive regulation of autophagosome assembly Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	22930	226407
Ensembl	ENSG00000115839	ENSMUSG00000036104
UniProt	Q15042	Q80UJ7
RefSeq (mRNA)	NM_001172435	NM_178690
RefSeq (protein)	NP_001165906	NP_848805
Location (UCSC)	Chr 2: 135.05 – 135.18 Mb	Chr 1: 127.87 – 127.94 Mb
PubMed search

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.^[1][2][3]

Function

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]

See also

• Micro syndrome
• RAB3GAP2 - the 150-kD noncatalytic subunit of RAB3GAP complex
• Tbc domain

References

1. Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y (Feb 1997). "Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins". The Journal of Biological Chemistry 272 (8): 4655–8. doi:10.1074/jbc.272.8.4655. PMID 9030515.
2. 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, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM, 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". Nature Genetics 37 (3): 221–3. doi:10.1038/ng1517. PMID 15696165.
3. "Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)".

Further reading

• Nomura N, Nagase T, Miyajima N, Sazuka T, Tanaka A, Sato S, Seki N, Kawarabayasi Y, Ishikawa K, Tabata S (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 Research : An International Journal for Rapid Publication of Reports on Genes and Genomes 1 (5): 223–9. doi:10.1093/dnares/1.5.223. PMID 7584044.
• Warburg M, Sjö O, Fledelius HC, Pedersen SA (Dec 1993). "Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome". American Journal of Diseases of Children (1960) 147 (12): 1309–12. doi:10.1001/archpedi.1993.02160360051017. PMID 8249951. Check date values in: |year= / |date= mismatch (help)
• Nagano F, Sasaki T, Fukui K, Asakura T, Imazumi K, Takai Y (Sep 1998). "Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein". The Journal of Biological Chemistry 273 (38): 24781–5. doi:10.1074/jbc.273.38.24781. PMID 9733780.
• Oishi H, Sasaki T, Nagano F, Ikeda W, Ohya T, Wada M, Ide N, Nakanishi H, Takai Y (Dec 1998). "Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis". The Journal of Biological Chemistry 273 (51): 34580–5. doi:10.1074/jbc.273.51.34580. PMID 9852129. Check date values in: |year= / |date= mismatch (help)
• Rodríguez Criado G, Rufo M, Gómez de Terreros I (Oct 1999). "A second family with Micro syndrome". Clinical Dysmorphology 8 (4): 241–5. doi:10.1097/00019605-199910000-00002. PMID 10532171.
• Clabecq A, Henry JP, Darchen F (Oct 2000). "Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP". The Journal of Biological Chemistry 275 (41): 31786–91. doi:10.1074/jbc.M003705200. PMID 10859313.
• Kawabe H, Sakisaka T, Yasumi M, Shingai T, Izumi G, Nagano F, Deguchi-Tawarada M, Takeuchi M, Nakanishi H, Takai Y (Jun 2003). "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 to Cells : Devoted to Molecular & Cellular Mechanisms 8 (6): 537–46. doi:10.1046/j.1365-2443.2003.00655.x. PMID 12786944. Check date values in: |year= / |date= mismatch (help)
• Cheviet S, Coppola T, Haynes LP, Burgoyne RD, Regazzi R (Jan 2004). "The Rab-binding protein Noc2 is associated with insulin-containing secretory granules and is essential for pancreatic beta-cell exocytosis". Molecular Endocrinology (Baltimore, Md.) 18 (1): 117–26. doi:10.1210/me.2003-0300. PMID 14593078.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 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, Sakakibara Y, Wakaguri H, Kanai A, Mizushima-Sugano J, Sugano S, Nakai K, Suzuki Y (Jul 2007). "Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes". Genome Research 17 (7): 1005–14. doi:10.1101/gr.6030107. PMC 1899111. PMID 17567985.