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

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 endoplasmic reticulum tubular network and excitatory synapse. 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, Nov 2024]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 10.3), cerebellum adult (RPKM 9.8) and 28 other tissues See more
Orthologs: human all
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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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rb and p130 have overlapping roles in maintaining the postmitotic state of adult cardiac myocytes through their interaction with HP1-gamma to direct heterochromatin formation and silencing of proliferation-promoting genes
Title: Rb and p130 control cell cycle gene silencing to maintain the postmitotic phenotype in cardiac myocytes.
The histological and physiological cochlear phenotype in p130-/- mice suggests a role for p130-mediated SC quiescence in the apical and upper middle turns of the cochlea.
Title: Mature mice lacking Rbl2/p130 gene have supernumerary inner ear hair cells and supporting cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-35d12 (e-PCR)
- UniSTS:257632

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

px-36f4 (e-PCR)
- UniSTS:257660

px-58e10 (e-PCR)
- UniSTS:257966

UniSTS:234205 (e-PCR)
- UniSTS:234205

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
enables small GTPase binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
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 establishment of protein localization to endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity 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	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	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of autophagosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endoplasmic reticulum tubular network organization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endoplasmic reticulum tubular network organization	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity 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 Rab protein signal transduction	ISS Inferred from Sequence or Structural Similarity 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 cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum tubular network	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum tubular network	ISS Inferred from Sequence or Structural Similarity more info
located_in excitatory synapse	ISO Inferred from Sequence Orthology more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

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

Status: VALIDATED

Source sequence(s)

AC163690

UniProtKB/TrEMBL

A0A1D5RLG3

Related

ENSMUSP00000148357.2, ENSMUST00000212506.2
NM_178690.5 → NP_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:612 → 769

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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

127796492..127871612

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163787.1 → XP_036019680.1 rab3 GTPase-activating protein catalytic subunit isoform X3

Conserved Domains (1) summary

pfam13890
Location:230 → 387

Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit
XM_006529407.4 → XP_006529470.1 rab3 GTPase-activating protein catalytic subunit isoform X2

Conserved Domains (1) summary

pfam13890
Location:230 → 387

Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit