Property Summary

NCBI Gene PubMed Count 38
PubMed Score 24.58
PubTator Score 29.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
tuberculosis -1.500 2.2e-05
pancreatic ductal adenocarcinoma liver m... 1.512 2.4e-03
ovarian cancer 1.500 2.5e-04
Gaucher disease type 1 -2.200 2.1e-02

Synonym

Accession Q15042 A6H8Z3 C9J837 Q659F5 Q8TBB4
Symbols P130
WARBM1
RAB3GAP
RAB3GAP130

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 MGI Phenotype (1)

Protein-protein Interaction (1)

Gene RIF (14)

PMID Text
26063829 Warburg Micro syndrome is caused by RAB3GAP deficiency.
25612670 results suggest that the binding of vesicle-associated membrane protein-associated protein B(VAP-B) to Rab3 GTPase activating protein (Rab3GAP1) is implicated in the regulation of nuclear envelope formation through ER-Golgi intermediate compartment
25495476 RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy
25332050 A large intragenic homozygous RAB3GAP1 microdeletion is associated with Warburg micro syndrome 1.
25159528 The stage catalyzed by Rab3 is in a unidirectional, hierarchical connection in which the intra-acrosomal calcium mobilization arm was subordinated to the fusion protein arm; somewhere after Rab3, the pathways became independent.
24891604 Rab18 and a Rab18 GEF complex of Rab3GAP1 and Rab3GAP2 have roles in the endoplasmic reticulum structure
23833071 This replication and meta-analysis study showed that genetic variation upstream of the RAB3GAP1 gene is highly likely to be a contributor to the genetic risk of keratoconus development.
23593153 Our findings suggest that RAB3GAP1 and ZNF365 are relevant candidate genes for SCD and will contribute to the mechanistic understanding of SCD susceptibility.
23420520 One-hundred and forty-four Micro and nine Martsolf families were investigated, identifying mutations in RAB3GAP1 in 41% of cases, mutations in RAB3GAP2 in 7% of cases, and mutations in RAB18 in 5% of cases
23176487 Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2.[Review]
22876574 The RAB3GAP gene encodes a protein which is a key regulator of the Rab3 pathway implicated in exocytic release of ocular and neurodevleopmental trophic factors.
22768674 Mutation in RAB3GAP1 is associated with warburg micro syndrome.
20512159 study found five new mutations in the RAB3GAP1 gene in seven patients with suspected Micro Syndrome from families with Turkish, Palestinian, Danish, and Guatemalan backgrounds
18286824 RAB3GAP1 has been shown to cause Micro syndrome.

AA Sequence

MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEKGIFTSGTWEEKSDEISFADF      1 - 70
KFSVTHHYLVQESTDKEGKDELLEDVVPQSMQDLLGMNNDFPPRAHCLVRWYGLREFVVIAPAAHSDAVL     71 - 140
SESKCNLLLSSVSIALGNTGCQVPLFVQIHHKWRRMYVGECQGPGVRTDFEMVHLRKVPNQYTHLSGLLD    141 - 210
IFKSKIGCPLTPLPPVSIAIRFTYVLQDWQQYFWPQQPPDIDALVGGEVGGLEFGKLPFGACEDPISELH    211 - 280
LATTWPHLTEGIIVDNDVYSDLDPIQAPHWSVRVRKAENPQCLLGDFVTEFFKICRRKESTDEILGRSAF    281 - 350
EEEGKETADITHALSKLTEPASVPIHKLSVSNMVHTAKKKIRKHRGVEESPLNNDVLNTILLFLFPDAVS    351 - 420
EKPLDGTTSTDNNNPPSESEDYNLYNQFKSAPSDSLTYKLALCLCMINFYHGGLKGVAHLWQEFVLEMRF    421 - 490
RWENNFLIPGLASGPPDLRCCLLHQKLQMLNCCIERKKARDEGKKTSASDVTNIYPGDAGKAGDQLVPDN    491 - 560
LKETDKEKGEVGKSWDSWSDSEEEFFECLSDTEELKGNGQESGKKGGPKEMANLRPEGRLYQHGKLTLLH    561 - 630
NGEPLYIPVTQEPAPMTEDLLEEQSEVLAKLGTSAEGAHLRARMQSACLLSDMESFKAANPGCSLEDFVR    631 - 700
WYSPRDYIEEEVIDEKGNVVLKGELSARMKIPSNMWVEAWETAKPIPARRQRRLFDDTREAEKVLHYLAI    701 - 770
QKPADLARHLLPCVIHAAVLKVKEEESLENISSVKKIIKQIISHSSKVLHFPNPEDKKLEEIIHQITNVE    771 - 840
ALIARARSLKAKFGTEKCEQEEEKEDLERFVSCLLEQPEVLVTGAGRGHAGRIIHKLFVNAQRAAAMTPP    841 - 910
EEELKRMGSPEERRQNSVSDFPPPAGREFILRTTVPRPAPYSKALPQRMYSVLTKEDFRLAGAFSSDTSF    911 - 980
F//

Text Mined References (46)

PMID Year Title
26063829 2015 Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
25612670 2014 VAP-B binds to Rab3GAP1 at the ER: its implication in nuclear envelope formation through the ER-Golgi intermediate compartment.
25495476 2014 RAB3GAP1 and RAB3GAP2 modulate basal and rapamycin-induced autophagy.
25332050 2014 Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
25159528 2014 Epac, Rap and Rab3 act in concert to mobilize calcium from sperm's acrosome during exocytosis.
24891604 2014 Rab18 and a Rab18 GEF complex are required for normal ER structure.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24239381 2013 Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23833071 2013 Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus.
23593153 2013 Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease.
23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
22876574 2012 Warburg micro syndrome in two children from a highly inbred Turkish family.
22768674 2012 Warburg Micro syndrome.
21979947 2012 A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
21269460 2011 Initial characterization of the human central proteome.
20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
20512159 2010 New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19077034 2009 Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18286824 2007 Phenotypic variability in Micro syndrome: report of new cases.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17567985 2007 Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16923123 2006 Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15696165 2005 Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12786944 2003 A novel rabconnectin-3-binding protein that directly binds a GDP/GTP exchange protein for Rab3A small G protein implicated in Ca(2+)-dependent exocytosis of neurotransmitter.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10859313 2000 Biochemical characterization of Rab3-GTPase-activating protein reveals a mechanism similar to that of Ras-GAP.
10532171 1999 A second family with Micro syndrome.
9852129 1998 Localization of the Rab3 small G protein regulators in nerve terminals and their involvement in Ca2+-dependent exocytosis.
9733780 1998 Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.
9030515 1997 Isolation and characterization of a GTPase activating protein specific for the Rab3 subfamily of small G proteins.
8249951 1993 Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.
7584044 1994 Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.