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ARHGAP1 Rho GTPase activating protein 1 [ Homo sapiens (human) ]

Gene ID: 392, updated on 9-Aug-2021

Summary

Official Symbol
ARHGAP1provided by HGNC
Official Full Name
Rho GTPase activating protein 1provided by HGNC
Primary source
HGNC:HGNC:673
See related
Ensembl:ENSG00000175220 MIM:602732
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
RHOGAP; RHOGAP1; CDC42GAP; p50rhoGAP
Summary
This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in urinary bladder (RPKM 39.6), heart (RPKM 37.9) and 25 other tissues See more
Orthologs
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Genomic context

See ARHGAP1 in Genome Data Viewer
Location:
11p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (46677077..46700660, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46698630..46722169, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene autophagy and beclin 1 regulator 1 Neighboring gene microRNA 3160-1 Neighboring gene microRNA 3160-2 Neighboring gene harbinger transposase derived 1 Neighboring gene autophagy related 13 Neighboring gene zinc finger protein 408 Neighboring gene coagulation factor II, thrombin

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
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GTPase activator activity TAS
Traceable Author Statement
more info
 
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
enables cadherin binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular exosome HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with sorting endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
rho GTPase-activating protein 1
Names
CDC42 GTPase-activating protein
GTPase-activating protein rhoGAP
GTPase-activating protein rhoOGAP
GTPase-activating protein, Rho, 1
rho-related small GTPase protein activator
rho-type GTPase-activating protein 1

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_004308.5NP_004299.1  rho GTPase-activating protein 1

    See identical proteins and their annotated locations for NP_004299.1

    Status: REVIEWED

    Source sequence(s)
    AC115088
    Consensus CDS
    CCDS7922.1
    UniProtKB/Swiss-Prot
    Q07960
    Related
    ENSP00000310491.4, ENST00000311956.9
    Conserved Domains (2) summary
    cd04404
    Location:239431
    RhoGAP-p50rhoGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p50RhoGAP-like proteins; p50RhoGAP, also known as RhoGAP-1, contains a C-terminal RhoGAP domain and an N-terminal Sec14 domain which binds phosphatidylinositol 3,4, ...
    pfam13716
    Location:82206
    CRAL_TRIO_2; Divergent CRAL/TRIO domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    46677077..46700660 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448520.1XP_024304288.1  rho GTPase-activating protein 1 isoform X1

    Related
    ENSP00000434883.1, ENST00000528837.5
    Conserved Domains (2) summary
    cd00170
    Location:77160
    SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
    cd04404
    Location:195387
    RhoGAP-p50rhoGAP; RhoGAP-p50rhoGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p50RhoGAP-like proteins; p50RhoGAP, also known as RhoGAP-1, contains a C-terminal RhoGAP domain and an N-terminal Sec14 domain which binds phosphatidylinositol ...
  2. XM_011520095.2XP_011518397.1  rho GTPase-activating protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011518397.1

    UniProtKB/Swiss-Prot
    Q07960
    Conserved Domains (2) summary
    cd04404
    Location:239431
    RhoGAP-p50rhoGAP; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of p50RhoGAP-like proteins; p50RhoGAP, also known as RhoGAP-1, contains a C-terminal RhoGAP domain and an N-terminal Sec14 domain which binds phosphatidylinositol 3,4, ...
    pfam13716
    Location:82206
    CRAL_TRIO_2; Divergent CRAL/TRIO domain
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