RAB3GAP1

RAB3GAP1
Identifiers
Aliases RAB3GAP1, P130, RAB3GAP, RAB3GAP130, WARBM1, RAB3 GTPase activating protein catalytic subunit 1
External IDs MGI: 2445001 HomoloGene: 45617 GeneCards: RAB3GAP1
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_012233

NM_178690

RefSeq (protein)

NP_001165906.1
NP_036365.1

NP_848805.2

Location (UCSC) Chr 2: 135.05 – 135.18 Mb Chr 1: 127.87 – 127.94 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.[3][4][5]

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][5]

See also

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  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. PMID 9030515.
  4. ↑ 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.
  5. 1 2 "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 1899111Freely accessible. PMID 17567985. 


This article is issued from Wikipedia - version of the 5/20/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.