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Rab3gap1
Gene Detail
Symbol

Name
ID
Rab3gap1
RAB3 GTPase activating protein subunit 1
MGI:2445001
Synonyms
1700003B17Rik, 4732493F09Rik, p130
Feature Type
protein coding gene
Genetic Map
Chromosome 1
55.80 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:127868773-127943868 bp, + strand
From VEGA annotation of GRCm38

  75096 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:45617  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: RAB3GAP1
Gene Tree: Rab3gap1

Human
homologs
RAB3GAP1, RAB3 GTPase activating protein subunit 1 (catalytic)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 22930
neXtProt AC: NX_Q15042

Human Synonyms: P130, RAB3GAP, RAB3GAP130, WARBM1

Human Chr (Location): 2q21.3; chr2:135052265-135175584 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human RAB3GAP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Gene trapped(2) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null mutation display abnormal synaptic transmission but have normal gross brain morphology.
 
Interactions
Rab3gap1 interacts with 225 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process brain development, camera-type eye development, ...
Component cell, cytoplasm, ...
Function GTPase activator activity, Rab GTPase binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (18)    Tissues (12)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 18
cDNA source data(13)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase rab3gap1    NEW 
Molecular
reagents
All nucleic(15) cDNA(15)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000025233 (Evidence)
Ensembl Gene Model ENSMUSG00000036104 (Evidence)
Entrez Gene 226407 (Evidence)
DFCI TC1634574, TC1576042, TC1623741
DoTS DT.94384162, DT.97376469, DT.40133741
NIA Mouse Gene Index U000756
Consensus CDS Project CCDS15249.1
International Mouse Phenotyping Consortium Status Rab3gap1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025233 VEGA Gene Model | MGI Sequence Detail 75096 C57BL/6J ±  kb
transcript OTTMUST00000062113 VEGA | MGI Sequence Detail 4243 Not Applicable 
polypeptide OTTMUSP00000030575 VEGA | MGI Sequence Detail 981 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(8) UniProt(2)
Polymorphisms
SNPs within 2kb(328 from dbSNP Build 137)    SNPs within 2kb including multiple locations(330)
Protein-related
information
ResourceIDDescription
InterPro IPR026147 Rab3 GTPase-activating protein catalytic subunit
Protein Ontology PR:000013621 rab3 GTPase-activating protein catalytic subunit
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:206668 Liegel RP, 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 Dec 5;93(6):1001-14
All references(31)
Other
accession IDs
MGI:1916596, MGI:3034589

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory