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    ARHGAP31 Rho GTPase activating protein 31 [ Homo sapiens (human) ]

    Gene ID: 57514, updated on 22-Apr-2017
    Official Symbol
    ARHGAP31provided by HGNC
    Official Full Name
    Rho GTPase activating protein 31provided by HGNC
    Primary source
    HGNC:HGNC:29216
    See related
    Ensembl:ENSG00000031081 MIM:610911; Vega:OTTHUMG00000159362
    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
    AOS1; CDGAP
    Summary
    This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    3q13.32-q13.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (119294289..119419476)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119013220..119138323)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uroplakin 1B Neighboring gene B4GALT4 antisense RNA 1 Neighboring gene beta-1,4-galactosyltransferase 4 Neighboring gene ARHGAP31 antisense RNA 1 Neighboring gene ribosomal protein S26 pseudogene 21 Neighboring gene RNA, U6 small nuclear 1127, pseudogene Neighboring gene uncharacterized LOC107986117 Neighboring gene transmembrane protein 39A Neighboring gene protein O-glucosyltransferase 1

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Adams-Oliver syndrome 1
    MedGen: CN028867 OMIM: 100300 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2013-07-18)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2013-07-18)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    A comprehensive family-based replication study of schizophrenia genes.
    NHGRI GWA Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    NHGRI GWA Catalog
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1204, MGC138368, MGC138370

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    positive regulation of GTPase activity 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    rho GTPase-activating protein 31
    Names
    Cdc42 GTPase-activating protein

    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_007665.2 RefSeqGene

      Range
      5001..130104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020754.3NP_065805.2  rho GTPase-activating protein 31

      See identical proteins and their annotated locations for NP_065805.2

      Status: REVIEWED

      Source sequence(s)
      AB033030, AC092981, BC112163, BM970175, KF457672
      Consensus CDS
      CCDS43135.1
      UniProtKB/Swiss-Prot
      Q2M1Z3
      Related
      ENSP00000264245.4, OTTHUMP00000215062, ENST00000264245.8, OTTHUMT00000354942
      Conserved Domains (1) summary
      cd04384
      Location:17211
      RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      119294289..119419476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713714.3XP_006713777.1  rho GTPase-activating protein 31 isoform X1

      Conserved Domains (1) summary
      cd04384
      Location:17211
      RhoGAP_CdGAP; RhoGAP_CdGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of CdGAP-like proteins; CdGAP contains an N-terminal RhoGAP domain and a C-terminal proline-rich region, and it is active on both Cdc42 and Rac1 but not RhoA. CdGAP ...
    2. XM_017006955.1XP_016862444.1  rho GTPase-activating protein 31 isoform X2

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      118976689..119101812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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