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 0.000
pancreatic ductal adenocarcinoma liver m... 1.512 0.002
ovarian cancer 1.500 0.000
Gaucher disease type 1 -2.200 0.021

Synonym

Accession Q15042 A6H8Z3 C9J837 Q659F5 Q8TBB4
Symbols P130
WARBM1
RAB3GAP
RAB3GAP130

Gene

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]
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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.
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