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

    Gene ID: 392, updated on 13-Feb-2019

    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

    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 Apr 4 07:08:55 2018

    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 
    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_004308.5NP_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, ENST00000311956.8
      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

    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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