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Rab3gap1 Gene Detail
Summary
  • Symbol
    Rab3gap1
  • Name
    RAB3 GTPase activating protein subunit 1
  • Synonyms
    1700003B17Rik, 4732493F09Rik, p130
  • Feature Type
    protein coding gene
  • IDs
    MGI:2445001
    NCBI Gene: 226407
  • Gene Overview
    MyGene.info: RAB3GAP1
Location & Maps
more
  • Sequence Map
    Chr1:127868773-127943868 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      75096 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    RAB3GAP1, RAB3 GTPase activating protein catalytic subunit 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RAB3GAP1, RAB3 GTPase activating protein catalytic subunit 1
    Orthology source: HomoloGene
  • Synonyms
    P130, RAB3GAP, RAB3GAP130, WARBM1
  • Links
    NCBI Gene ID: 22930
    neXtProt AC: NX_Q15042

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

Human Diseases
more
  • Diseases
    1 with human RAB3GAP1 associations

Human Disease Mouse Models
       Warburg Micro Syndrome 1; WARBM1   OMIM: 600118
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    2
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    1
  • Genomic Mutations
    3 involving Rab3gap1
  • Incidental Mutations
Mice homozygous for a null mutation display abnormal synaptic transmission but have normal gross brain morphology.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    326 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000013621 rab3 GTPase-activating protein catalytic subunit
  • InterPro Domains
    IPR026147 Rab3 GTPase-activating protein catalytic subunit
Molecular
Reagents
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  • All nucleic 15
    cDNA 15

    Microarray probesets 3
Other
Accession IDs
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MGI:1916596, MGI:3034589
References
more
  • Summaries
    All 28
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 7
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory