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

Gene ID: 392, updated on 2-Oct-2018

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; Vega:OTTHUMG00000166567
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

Genomic context

See ARHGAP1 in Genome Data Viewer
Location:
11p11.2
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (46677075..46700665, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46698625..46722215, 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

Pathways from BioSystems

  • Regulation of CDC42 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of CDC42 activity, organism-specific biosystem
    Regulation of CDC42 activity
  • Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RAC1 activity, organism-specific biosystem
    Regulation of RAC1 activity
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activator activity TAS
Traceable Author Statement
more info
 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
SH3/SH2 adaptor activity TAS
Traceable Author Statement
more info
PubMed 
cadherin binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rho protein signal transduction TAS
Traceable Author Statement
more info
PubMed 
endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
small GTPase mediated signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
transferrin transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
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)

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_004308.4NP_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, OTTHUMP00000233485, ENST00000311956.8
    Conserved Domains (2) summary
    cd04404
    Location:239431
    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 ...
    pfam13716
    Location:82206
    CRAL_TRIO_2; Divergent CRAL/TRIO domain

RefSeqs of Annotated Genomes: Homo sapiens 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 GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    46677075..46700665 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-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 ...
    pfam13716
    Location:82206
    CRAL_TRIO_2; Divergent CRAL/TRIO domain
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