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    Rab3gap1 RAB3 GTPase activating protein subunit 1 [ Mus musculus (house mouse) ]

    Gene ID: 226407, updated on 26-Sep-2022

    Summary

    Official Symbol
    Rab3gap1provided by MGI
    Official Full Name
    RAB3 GTPase activating protein subunit 1provided by MGI
    Primary source
    MGI:MGI:2445001
    See related
    Ensembl:ENSMUSG00000036104 AllianceGenome:MGI:2445001
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p130; Rab3gap; 1700003B17Rik; 4732493F09Rik; rab3-GAP p130
    Summary
    Predicted to enable GTPase activator activity and small GTPase binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in several processes, including excitatory postsynaptic potential; modulation of chemical synaptic transmission; and positive regulation of GTPase activity. Predicted to be located in several cellular components, including endoplasmic reticulum tubular network; excitatory synapse; and lipid droplet. Predicted to be part of protein-containing complex. Is expressed in several structures, including brain and neural retina. Human ortholog(s) of this gene implicated in Warburg micro syndrome 1. Orthologous to human RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in frontal lobe adult (RPKM 10.3), cerebellum adult (RPKM 9.8) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Rab3gap1 in Genome Data Viewer
    Location:
    1; 1 E3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (127796492..127871613)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (127868755..127943876)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene cyclin T2 Neighboring gene mitogen-activated protein kinase kinase kinase 19 Neighboring gene zinc finger, RAN-binding domain containing 3 Neighboring gene predicted gene 28800 Neighboring gene My020 protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTPase activator activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    contributes_to guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in brain development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in camera-type eye development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in establishment of protein localization to endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in excitatory postsynaptic potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in face morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in hypothalamus development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lipid droplet organization ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of autophagosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of endoplasmic reticulum tubular network organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein lipidation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein stabilization IC
    Inferred by Curator
    more info
    PubMed 
    involved_in regulation of GTPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of calcium ion-dependent exocytosis of neurotransmitter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of catalytic activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in regulation of short-term neuronal synaptic plasticity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of synaptic vesicle priming TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synaptic vesicle transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum tubular network ISO
    Inferred from Sequence Orthology
    more info
     
    located_in excitatory synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    rab3 GTPase-activating protein catalytic subunit
    Names
    RAB3 GTPase-activating protein 130 kDa subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001402313.1NP_001389242.1  rab3 GTPase-activating protein catalytic subunit isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC163690
      UniProtKB/TrEMBL
      A0A1D5RLG3
    2. NM_178690.5NP_848805.2  rab3 GTPase-activating protein catalytic subunit isoform 2

      See identical proteins and their annotated locations for NP_848805.2

      Status: VALIDATED

      Source sequence(s)
      AC163690
      Consensus CDS
      CCDS15249.1
      UniProtKB/Swiss-Prot
      Q80UJ7, Q8K324
      Related
      ENSMUSP00000042070.6, ENSMUST00000037649.6
      Conserved Domains (1) summary
      pfam13890
      Location:612769
      Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      127796492..127871613
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006529405.3XP_006529468.1  rab3 GTPase-activating protein catalytic subunit isoform X1

      UniProtKB/TrEMBL
      A0A1D5RLG3
      Related
      ENSMUSP00000148357.2, ENSMUST00000212506.2
      Conserved Domains (1) summary
      pfam13890
      Location:612769
      Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit
    2. XM_036163787.1XP_036019680.1  rab3 GTPase-activating protein catalytic subunit isoform X3

      Conserved Domains (1) summary
      pfam13890
      Location:230387
      Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit
    3. XM_006529407.4XP_006529470.1  rab3 GTPase-activating protein catalytic subunit isoform X2

      Conserved Domains (1) summary
      pfam13890
      Location:230387
      Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit

    RNA

    1. XR_001784075.3 RNA Sequence