RAB3GAP2

RAB3GAP2
Identifiers
Aliases	RAB3GAP2 , RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150, RAB3 GTPase activating non-catalytic protein subunit 2, MARTS1
External IDs	OMIM: 609275 MGI: 1916043 HomoloGene: 40842 GeneCards: RAB3GAP2
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1q41 Start 220,148,293 bp [1] End 220,272,529 bp [1]
Gene location (Mouse) Chr. Chromosome 1 (mouse) [2] Band 1|1 H5 Start 184,936,314 bp [2] End 185,018,956 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spinal ganglia pericardium trigeminal ganglion pons Brodmann area 46 cardia endothelial cell superior vestibular nucleus lactiferous duct postcentral gyrus Top expressed in secondary oocyte substantia nigra facial motor nucleus superior frontal gyrus calvaria islet of Langerhans motor neuron spermatocyte cerebellar cortex adrenal gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function enzyme regulator activity enzyme activator activity GTPase activator activity protein heterodimerization activity protein binding Cellular component plasma membrane endoplasmic reticulum membrane cytoplasm cytosol protein-containing complex Biological process regulation of GTPase activity positive regulation of protein lipidation establishment of protein localization to endoplasmic reticulum membrane intracellular protein transport positive regulation of autophagosome assembly positive regulation of endoplasmic reticulum tubular network organization positive regulation of catalytic activity positive regulation of GTPase activity Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25782 98732 Ensembl ENSG00000118873 ENSMUSG00000039318 UniProt Q9H2M9 Q8BMG7 RefSeq (mRNA) NM_012414 NM_001163754 NM_172649 RefSeq (protein) NP_036546 NP_001157226 NP_001392257 Location (UCSC) Chr 1: 220.15 – 220.27 Mb Chr 1: 184.94 – 185.02 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Rab3 GTPase-activating protein non-catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP2 gene. ^{[5] [6] [7]}

Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in Ca(2+)-dependent exocytosis. RAB3GAP, which is involved in regulation of RAB3 activity, is a heterodimeric complex consisting a 130-kD catalytic subunit (RAB3GAP1; MIM 602536) and a 150-kD noncatalytic subunit (RAB3GAP2) (Nagano et al., 1998).[supplied by OMIM] ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000118873 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039318 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (May 1999). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 5 (6): 355–64. doi: 10.1093/dnares/5.6.355 . PMID   10048485.
6. 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. S2CID   7561087.
7. "Entrez Gene: RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)".

Further reading

• 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.
• Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi: 10.1093/dnares/9.3.99 . PMID   12168954.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• 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.
• Lehner B, Sanderson CM (2004). "A Protein Interaction Framework for Human mRNA Degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC   442147 . PMID   15231747.
• Aligianis IA, Morgan NV, Mione M, et al. (2006). "Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome". Am. J. Hum. Genet. 78 (4): 702–7. doi:10.1086/502681. PMC   1424696 . PMID   16532399.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC   1847948 . PMID   17353931.