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

    Gene ID: 57514, updated on 27-Nov-2024

    Summary

    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; AllianceGenome:HGNC:29216
    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
    AOS; 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]
    Expression
    Broad expression in lung (RPKM 13.9), fat (RPKM 10.8) and 22 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ARHGAP31 in Genome Data Viewer
    Location:
    3q13.32-q13.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119294383..119420714)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122014089..122140425)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119013230..119139561)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uroplakin 1B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:118925194-118925720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:118925721-118926245 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:118944135-118944307 Neighboring gene B4GALT4 antisense RNA 1 Neighboring gene beta-1,4-galactosyltransferase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:118975541-118976279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20297 Neighboring gene Sharpr-MPRA regulatory region 6621 Neighboring gene NANOG hESC enhancer GRCh37_chr3:119028728-119029229 Neighboring gene ARHGAP31 antisense RNA 1 Neighboring gene ribosomal protein S26 pseudogene 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:119041278-119042135 and GRCh37_chr3:119042136-119042992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20299 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:119068069-119068893 Neighboring gene RNA, U6 small nuclear 1127, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:119070415-119071112 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:119079699-119080370 Neighboring gene uncharacterized LOC124906273 Neighboring gene transmembrane protein 39A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:119187474-119187974 Neighboring gene protein O-glucosyltransferase 1

    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
    Adams-Oliver syndrome 1
    MedGen: C4551482 OMIM: 100300 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2023-06-13)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2023-06-13)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A comprehensive family-based replication study of schizophrenia genes.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1204, MGC138368, MGC138370

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    involved_in small GTPase-mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    rho GTPase-activating protein 31
    Names
    Cdc42 GTPase-activating protein

    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_007665.2 RefSeqGene

      Range
      5011..131342
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020754.4NP_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, Q9ULL6
      UniProtKB/TrEMBL
      A0A8S0M5T0, A0A8S0MHV1
      Related
      ENSP00000264245.4, ENST00000264245.9
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      119294383..119420714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713714.4XP_006713777.1  rho GTPase-activating protein 31 isoform X1

      UniProtKB/TrEMBL
      A0A8S0M5T0
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      122014089..122140425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347395.1XP_054203370.1  rho GTPase-activating protein 31 isoform X1