Gene Symbol: Rab3gap1
Description: RAB3 GTPase activating protein subunit 1
Alias: 1700003B17Rik, 4732493F09Rik, AL117896, Rab3gap, p130, rab3 GTPase-activating protein catalytic subunit, RAB3 GTPase-activating protein 130 kDa subunit, rab3-GAP p130
Aligianis I, Johnson C, Gissen P, Chen D, Hampshire D, Hoffmann K, et al
. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005;37:221-3 pubmed
..We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of ..
Sakane A, Manabe S, Ishizaki H, Tanaka Okamoto M, Kiyokage E, Toida K, et al
. Rab3 GTPase-activating protein regulates synaptic transmission and plasticity through the inactivation of Rab3. Proc Natl Acad Sci U S A. 2006;103:10029-34 pubmed
..Rab3 GAP consists of two subunits: the catalytic subunit p130 and the noncatalytic subunit p150...
Rocha Sanchez S, Scheetz L, Contreras M, Weston M, Korte M, McGee J, et al
. Mature mice lacking Rbl2/p130 gene have supernumerary inner ear hair cells and supporting cells. J Neurosci. 2011;31:8883-93 pubmed publisher
..The retinoblastoma (pRB) family of cell cycle regulators, Rb1, Rbl1 (p107), and Rbl2 (p130), regulate the G(1)- to S-phase transition in proliferating cells...
Sdek P, Zhao P, Wang Y, Huang C, Ko C, Butler P, et al
. Rb and p130 control cell cycle gene silencing to maintain the postmitotic phenotype in cardiac myocytes. J Cell Biol. 2011;194:407-23 pubmed publisher
..To test this hypothesis, we created cardiac-specific Rb and p130 inducible double knockout (IDKO) mice...
Liegel R, Handley M, Ronchetti A, Brown S, Langemeyer L, Linford A, et al
. Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. Am J Hum Genet. 2013;93:1001-14 pubmed publisher
..a spectrum of disorders characterized by eye, brain, and endocrine abnormalities caused by mutations in RAB3GAP1, RAB3GAP2, and RAB18...
Figueiredo A, Wasmeier C, Tarafder A, Ramalho J, Baron R, Seabra M. Rab3GEP is the non-redundant guanine nucleotide exchange factor for Rab27a in melanocytes. J Biol Chem. 2008;283:23209-16 pubmed publisher
..Our results indicate promiscuity in Rab GEF action and suggest that members of related but functionally distinct Rab subfamilies can be controlled by common activators. ..
Szodorai A, Kuan Y, Hunzelmann S, Engel U, Sakane A, Sasaki T, et al
. APP anterograde transport requires Rab3A GTPase activity for assembly of the transport vesicle. J Neurosci. 2009;29:14534-44 pubmed publisher
..Together, these data indicate that maturation of APP transport vesicles, including recruitment of conventional kinesin, requires Rab3 GTPase activity...
Redwood A, Perkins S, VanderWaal R, Feng Z, Biehl K, Gonzalez Suarez I, et al
. A dual role for A-type lamins in DNA double-strand break repair. Cell Cycle. 2011;10:2549-60 pubmed
..involving transcriptional downregulation of BRCA1 and RAD51 by the repressor complex formed by the Rb family member p130 and E2F4. In line with the DNA repair defects, lamins-deficient cells exhibit increased radiosensitivity...
Vaillend C, Poirier R, Laroche S. Genes, plasticity and mental retardation. Behav Brain Res. 2008;192:88-105 pubmed publisher