RAB3GAP1
Identifiers
AliasesRAB3GAP1, P130, RAB3GAP, RAB3GAP130, WARBM1, RAB3 GTPase activating protein catalytic subunit 1, MARTS2
External IDsOMIM: 602536 MGI: 2445001 HomoloGene: 45617 GeneCards: RAB3GAP1
Orthologs
SpeciesHumanMouse
Entrez

22930

226407

Ensembl

ENSG00000115839

ENSMUSG00000036104

UniProt

Q15042

Q80UJ7

RefSeq (mRNA)

NM_001172435
NM_012233

NM_178690

RefSeq (protein)

NP_001165906
NP_036365

NP_848805
NP_001389242

Location (UCSC)Chr 2: 135.05 – 135.18 MbChr 1: 127.8 – 127.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Rab3 GTPase-activating protein catalytic subunit is an enzyme that in humans is encoded by the RAB3GAP1 gene.[5][6][7]

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][7] RAB3GAP is reported to modulate basal and rapamycin-induced autophagy in human fibroblasts and C. elegans.[8] Further, the RAB3GAP1 knockdown has shown to affect the autophagy and mineralization potential of human primary osteoblasts.[9]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000115839 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036104 - 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. 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): 4655–4658. doi:10.1074/jbc.272.8.4655. PMID 9030515.
  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, 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): 221–223. doi:10.1038/ng1517. PMID 15696165. S2CID 7561087.
  7. 1 2 "Entrez Gene: RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)".
  8. 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 (12 December 2014). "RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy". Autophagy. 10 (12): 2297–2309. doi:10.4161/15548627.2014.994359. PMC 4502700. PMID 25495476.
  9. Gavali, Shubhangi; Gupta, Manoj Kumar; Daswani, Bhavna; Wani, Mohan R.; Sirdeshmukh, Ravi; Khatkhatay, M. Ikram (September 2019). "Estrogen enhances human osteoblast survival and function via promotion of autophagy". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1866 (9): 1498–1507. doi:10.1016/j.bbamcr.2019.06.014. PMID 31255720.

Further reading

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