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    ARHGAP8 Rho GTPase activating protein 8 [ Homo sapiens (human) ]

    Gene ID: 23779, updated on 16-Sep-2017
    Official Symbol
    ARHGAP8provided by HGNC
    Official Full Name
    Rho GTPase activating protein 8provided by HGNC
    Primary source
    HGNC:HGNC:677
    See related
    Ensembl:ENSG00000241484 MIM:609405; Vega:OTTHUMG00000030234
    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
    PP610; BPGAP1
    Summary
    This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
    Orthologs
    Location:
    22q13.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (44752558..44862784)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45148438..45258664)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 2 Neighboring gene PRR5-ARHGAP8 readthrough Neighboring gene proline rich 5 Neighboring gene uncharacterized LOC105373062 Neighboring gene PHD finger protein 21B Neighboring gene ribosomal protein L6 pseudogene 28 Neighboring gene uncharacterized LOC105373063

    • 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?

    NHGRI GWAS Catalog

    Description
    Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.
    NHGRI GWA Catalog
    Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
    NHGRI GWA Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    NHGRI GWA Catalog
    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Readthrough PRR5-ARHGAP8

    Readthrough gene: PRR5-ARHGAP8, Included gene: PRR5

    Homology

    Clone Names

    • FLJ20185

    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
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    rho GTPase-activating protein 8
    Names
    BCH domain-containing Cdc42GAP-like protein
    BNIP-2 and Cdc42GAP homology domain-containing, proline-rich and Cdc42GAP-like protein subtype-1
    rho-type GTPase-activating protein 8

    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_001017526.1NP_001017526.1  rho GTPase-activating protein 8 isoform 1

      See identical proteins and their annotated locations for NP_001017526.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK001306, AK022305, BC010490, Z83838
      Consensus CDS
      CCDS33664.1
      UniProtKB/Swiss-Prot
      P85298
      UniProtKB/TrEMBL
      Q6PJW1
      Related
      ENSP00000374424.2, OTTHUMP00000028598, ENST00000389774.6, OTTHUMT00000075088
      Conserved Domains (2) summary
      cd00170
      Location:12188
      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 ...
      cl02570
      Location:222412
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    2. NM_001198726.1NP_001185655.1  rho GTPase-activating protein 8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks both an alternate in-frame exon in the central coding region and an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI284954, AK001306, AW673723, BC067824
      Consensus CDS
      CCDS56233.1
      UniProtKB/Swiss-Prot
      P85298
      Related
      ENSP00000337287.4, OTTHUMP00000082599, ENST00000336963.8, OTTHUMT00000157074
      Conserved Domains (2) summary
      cd00170
      Location:12157
      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 ...
      cl02570
      Location:191297
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
    3. NM_181335.2NP_851852.2  rho GTPase-activating protein 8 isoform 2

      See identical proteins and their annotated locations for NP_851852.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding reigon, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AK001306, AK022305, BC010490, Z83838
      Consensus CDS
      CCDS14060.2
      UniProtKB/Swiss-Prot
      P85298
      UniProtKB/TrEMBL
      Q6PJW1
      Related
      ENSP00000348407.6, OTTHUMP00000082600, ENST00000356099.10, OTTHUMT00000157075
      Conserved Domains (2) summary
      cd00170
      Location:12157
      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 ...
      cl02570
      Location:191381
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    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_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      44752558..44862784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      45141077..45217387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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