RAB3GAP2

Protein-coding gene in the species Homo sapiens
RAB3GAP2
Identifiers
AliasesRAB3GAP2, RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150, RAB3 GTPase activating non-catalytic protein subunit 2, MARTS1
External IDsOMIM: 609275; MGI: 1916043; HomoloGene: 40842; GeneCards: RAB3GAP2; OMA:RAB3GAP2 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for RAB3GAP2
Genomic location for RAB3GAP2
Band1q41Start220,148,293 bp[1]
End220,272,529 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for RAB3GAP2
Genomic location for RAB3GAP2
Band1|1 H5Start184,936,314 bp[2]
End185,018,956 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Epithelium of choroid plexus

  • lateral nuclear group of thalamus

  • spinal ganglia

  • pericardium

  • trigeminal ganglion

  • pons

  • Brodmann area 46

  • cardia

  • beta cell

  • endothelial cell
Top expressed in
  • zygote

  • secondary oocyte

  • granulocyte

  • dentate gyrus of hippocampal formation granule cell

  • substantia nigra

  • facial motor nucleus

  • primary oocyte

  • superior frontal gyrus

  • primary visual cortex

  • decidua
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
SpeciesHumanMouse
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 MbChr 1: 184.94 – 185.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000118873 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "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.


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