RAB3GAP2

RAB3GAP2
Identifiers
Aliases	RAB3GAP2, RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150, RAB3 GTPase activating non-catalytic protein subunit 2
External IDs	OMIM: 609275 MGI: 1916043 HomoloGene: 40842 GeneCards: RAB3GAP2
Gene location (Human)
Chr.	Chromosome 1 (human)[1]
End	220,272,453 bp[1]
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)[2]
End	185,286,759 bp[2]
RNA expression pattern
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	• GO:0010576 enzyme regulator activity; • GO:0010577 enzyme activator activity; • Rab GTPase binding; • Rab guanyl-nucleotide exchange factor activity; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity; • protein heterodimerization activity; • GO:0001948 protein binding;
Cellular component	• cell membrane; • endoplasmic reticulum membrane; • cytoplasm; • cytosol; • macromolecular complex;
Biological process	• GO:0043087, GO:0032313, GO:0032319, GO:0032314, GO:0043088 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; • GO:0048554 positive regulation of catalytic activity; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity;
	Sources:Amigo / QuickGO
Orthologs
	25782
	98732
	ENSG00000118873
	ENSMUSG00000039318
	Q9H2M9
	Q8BMG7
	NM_012414
	NM_001163754; NM_172649
	NP_036546
	NP_001157226
	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

GRCh38: Ensembl release 89: ENSG00000118873 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000039318 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)".

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. 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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000118873 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10048485-5] 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.

[pmid15696165-6] 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.

[entrez-7] "Entrez Gene: RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)".

RAB3GAP2

References

Further reading