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RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 [ Homo sapiens (human) ]

Gene ID: 22930, updated on 13-May-2022

Summary

Official Symbol
RAB3GAP1provided by HGNC
Official Full Name
RAB3 GTPase activating protein catalytic subunit 1provided by HGNC
Primary source
HGNC:HGNC:17063
See related
Ensembl:ENSG00000115839 MIM:602536; AllianceGenome:HGNC:17063
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P130; MARTS2; WARBM1; RAB3GAP; RAB3GAP130
Summary
This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Expression
Ubiquitous expression in brain (RPKM 16.8), thyroid (RPKM 15.9) and 25 other tissues See more
Orthologs
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Genomic context

See RAB3GAP1 in Genome Data Viewer
Location:
2q21.3
Exon count:
29
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (135052292..135176396)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (135492756..135611186)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (135809862..135928280)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cyclin T2 Neighboring gene mitogen-activated protein kinase kinase kinase 19 Neighboring gene small nucleolar RNA U13 Neighboring gene HNF4 motif-containing MPRA enhancer 203 Neighboring gene small nucleolar RNA, H/ACA box 40B Neighboring gene Sharpr-MPRA regulatory region 426 Neighboring gene uncharacterized LOC124906077 Neighboring gene zinc finger RANBP2-type containing 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Martsolf syndrome 2
MedGen: C5543626 OMIM: 619420 GeneReviews: Not available
Compare labs
Warburg micro syndrome 1
MedGen: C1838625 OMIM: 600118 GeneReviews: RAB18 Deficiency
Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0066, DKFZp434A012

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in camera-type eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of protein localization to endoplasmic reticulum membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in face morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hypothalamus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lipid droplet organization IMP
Inferred from Mutant Phenotype
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of endoplasmic reticulum tubular network organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein lipidation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of calcium ion-dependent exocytosis of neurotransmitter ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of short-term neuronal synaptic plasticity ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum tubular network IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rab3 GTPase-activating protein catalytic subunit
Names
RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3 GTPase-activating protein 130 kDa subunit
rab3-GAP p130

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.

Genomic

  1. NG_016972.1 RefSeqGene

    Range
    5028..123446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172435.2NP_001165906.1  rab3 GTPase-activating protein catalytic subunit isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC017031, BC071602, DA333844
    Consensus CDS
    CCDS54402.1
    UniProtKB/Swiss-Prot
    Q15042
    Related
    ENSP00000411418.1, ENST00000442034.5
    Conserved Domains (2) summary
    pfam13890
    Location:612769
    Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit
    pfam15810
    Location:881970
    CCDC117; Coiled-coil domain-containing protein 117
  2. NM_012233.3NP_036365.1  rab3 GTPase-activating protein catalytic subunit isoform 2

    See identical proteins and their annotated locations for NP_036365.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC017031, D31886, DA333844
    Consensus CDS
    CCDS33294.1
    UniProtKB/Swiss-Prot
    Q15042
    UniProtKB/TrEMBL
    B9A6J2
    Related
    ENSP00000264158.8, ENST00000264158.13
    Conserved Domains (1) summary
    pfam13890
    Location:612769
    Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    135052292..135176396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510823.4XP_011509125.1  rab3 GTPase-activating protein catalytic subunit isoform X1

    Related
    ENSP00000444306.2, ENST00000539493.3
    Conserved Domains (1) summary
    pfam13890
    Location:612769
    Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit
  2. XM_011510825.4XP_011509127.1  rab3 GTPase-activating protein catalytic subunit isoform X2

    Conserved Domains (1) summary
    pfam13890
    Location:612769
    Rab3-GTPase_cat; Rab3 GTPase-activating protein catalytic subunit
  3. XM_047443732.1XP_047299688.1  rab3 GTPase-activating protein catalytic subunit isoform X3

RNA

  1. XR_001738674.3 RNA Sequence

    Related
    ENST00000487003.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    135492756..135611186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)