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]
↑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. PMID9030515.
↑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. PMID15696165.
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. 1 (5): 223–9. doi:10.1093/dnares/1.5.223. PMID7584044.
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. 147 (12): 1309–12. doi:10.1001/archpedi.1993.02160360051017. PMID8249951. 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. PMID9733780.
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. PMID9852129. 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. PMID10532171.
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. PMID10859313.
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. 8 (6): 537–46. doi:10.1046/j.1365-2443.2003.00655.x. PMID12786944. 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. PMID14593078.
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. PMID17081983.
