RAB3GAP1 explained

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] RAB3GAP is reported to modulate basal and rapamycin-induced autophagy in human fibroblasts and C. elegans.^[4] Further, the RAB3GAP1 knockdown has shown to affect the autophagy and mineralization potential of human primary osteoblasts.^[5]

See also

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

Further reading

• Nomura N, Nagase T, Miyajima N, Sazuka T, Tanaka A, Sato S, Seki N, Kawarabayasi Y, Ishikawa K, Tabata S . 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 . 223–229 . 1995 . 7584044 . 10.1093/dnares/1.5.223 . free .
• Warburg . Mette . Sjö . O . Fledelius . HC . Pedersen . SA . Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism . American Journal of Diseases of Children . 1 December 1993 . 147 . 12 . 1309–12 . 10.1001/archpedi.1993.02160360051017 . 8249951 .
• Nagano F, Sasaki T, Fukui K, Asakura T, Imazumi K, Takai Y . Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein . The Journal of Biological Chemistry . 273 . 38 . 24781–24785 . Sep 1998 . 9733780 . 10.1074/jbc.273.38.24781 . free .
• Oishi . Hideto . Sasaki . Takuya . Nagano . Fumiko . Ikeda . Wataru . Ohya . Takeshi . Wada . Manabu . Ide . Nobuyuki . Nakanishi . Hiroyuki . Takai . Yoshimi . Localization of the Rab3 Small G Protein Regulators in Nerve Terminals and Their Involvement in Ca2+-dependent Exocytosis . Journal of Biological Chemistry . 18 December 1998 . 273 . 51 . 34580–34585 . 10.1074/jbc.273.51.34580 . 9852129 . free .
• Rodríguez Criado G, Rufo M, Gómez de Terreros I . A second family with Micro syndrome . Clinical Dysmorphology . 8 . 4 . 241–245 . Oct 1999 . 10532171 . 10.1097/00019605-199910000-00002 .
• Clabecq A, Henry JP, Darchen F . Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP . The Journal of Biological Chemistry . 275 . 41 . 31786–31791 . Oct 2000 . 10859313 . 10.1074/jbc.M003705200 . free .
• Kawabe . Hiroshi . Sakisaka . Toshiaki . Yasumi . Masato . Shingai . Tatsushi . Izumi . Genkichi . Nagano . Fumiko . Deguchi-Tawarada . Maki . Takeuchi . Masakazu . Nakanishi . Hiroyuki . Takai . Yoshimi . A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca2+-dependent exocytosis of neurotransmitter . Genes to Cells . June 2003 . 8 . 6 . 537–546 . 10.1046/j.1365-2443.2003.00655.x . 12786944 . 24111116 . free .
• Cheviet . Séverine . Coppola . Thierry . Haynes . Lee P. . Burgoyne . Robert D. . Regazzi . Romano . The Rab-Binding Protein Noc2 Is Associated with Insulin-Containing Secretory Granules and Is Essential for Pancreatic β-Cell Exocytosis . Molecular Endocrinology . 1 January 2004 . 18 . 1 . 117–126 . 10.1210/me.2003-0300 . 14593078 . free .
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–648 . Nov 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Tsuritani K, Irie T, Yamashita R, Sakakibara Y, Wakaguri H, Kanai A, Mizushima-Sugano J, Sugano S, Nakai K, Suzuki Y . Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes . Genome Research . 17 . 7 . 1005–1014 . Jul 2007 . 17567985 . 1899111 . 10.1101/gr.6030107 .

Notes and References

1. Fukui K, Sasaki T, Imazumi K, Matsuura Y, Nakanishi H, Takai Y . Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins . The Journal of Biological Chemistry . 272 . 8 . 4655–4658 . Feb 1997 . 9030515 . 10.1074/jbc.272.8.4655 . free .
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 . Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome . Nature Genetics . 37 . 3 . 221–223 . Mar 2005 . 15696165 . 10.1038/ng1517 . 7561087 .
3. Web site: Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic).
4. Spang . Natalie . Feldmann . Anne . Huesmann . Heike . Bekbulat . Fazilet . Schmitt . Verena . Hiebel . Christof . Koziollek-Drechsler . Ingrid . Clement . Albrecht M . Moosmann . Bernd . Jung . Jennifer . Behrends . Christian . Dikic . Ivan . Kern . Andreas . Behl . Christian . RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy . Autophagy . 12 December 2014 . 10 . 12 . 2297–2309 . 10.4161/15548627.2014.994359 . 25495476 . 4502700 .
5. Gavali . Shubhangi . Gupta . Manoj Kumar . Daswani . Bhavna . Wani . Mohan R. . Sirdeshmukh . Ravi . Khatkhatay . M. Ikram . Estrogen enhances human osteoblast survival and function via promotion of autophagy . Biochimica et Biophysica Acta (BBA) - Molecular Cell Research . September 2019 . 1866 . 9 . 1498–1507 . 10.1016/j.bbamcr.2019.06.014 . 31255720 . free .