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

Gene ID: 226407, updated on 18-Apr-2024

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

Location:
1 E3; 1 55.8 cM
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (127796492..127871612)
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 CapStarr-seq enhancer MGSCv37_chr1:129726872-129727109 Neighboring gene mitogen-activated protein kinase kinase kinase 19 Neighboring gene STARR-positive B cell enhancer ABC_E7742 Neighboring gene zinc finger, RAN-binding domain containing 3 Neighboring gene predicted gene 28800 Neighboring gene STARR-seq mESC enhancer starr_02154 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)
  • Endonuclease-mediated (1) 
  • Targeted (1)  1 citation

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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 
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 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)

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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
    Related
    ENSMUSP00000148357.2, ENSMUST00000212506.2
  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
    Q3TPB6, Q6A0D7, Q80UJ7, Q8C4Y0, Q8C679, Q8C6A5, Q8K324
    UniProtKB/TrEMBL
    Q3UYK8
    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: GCF_000001635.27-RS_2024_02

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..127871612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
  2. 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