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

    Gene ID: 23779, updated on 5-Mar-2024

    Summary

    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; AllianceGenome:HGNC:677
    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]
    Expression
    Broad expression in kidney (RPKM 6.0), thyroid (RPKM 5.9) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ARHGAP8 in Genome Data Viewer
    Location:
    22q13.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (44752575..44862784)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45236322..45346305)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (45148455..45258664)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45075286-45076182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45079991-45080530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45081707-45082207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45095169-45095709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13869 Neighboring gene PRR5-ARHGAP8 readthrough Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45102723-45103498 Neighboring gene proline rich 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45105554-45106385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45110087-45110588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45118011-45118847 Neighboring gene Sharpr-MPRA regulatory region 7347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45120565-45121066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45131503-45132091 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:45175450-45175950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45178826-45179382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45182309-45182849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45181768-45182308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45196797-45197331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45202373-45202928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45202929-45203484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45211671-45212299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45232905-45233406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45237719-45238416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45255234-45255928 Neighboring gene uncharacterized LOC105373062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45259453-45260206 Neighboring gene uncharacterized LOC124905133 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:45264084-45265283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45265953-45266864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45283652-45284216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45286475-45286976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45290290-45291254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45291255-45292218 Neighboring gene PHD finger protein 21B Neighboring gene ribosomal protein L6 pseudogene 28

    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

    EBI GWAS Catalog

    Description
    Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.
    EBI GWAS Catalog
    Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
    EBI GWAS Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough PRR5-ARHGAP8

    Readthrough gene: PRR5-ARHGAP8, Included gene: PRR5

    Clone Names

    • FLJ20185

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    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

    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.

    mRNA and Protein(s)

    1. NM_001017526.2NP_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
      A6ZJ79, A6ZJ80, P85298
      UniProtKB/TrEMBL
      Q86XV6, Q8IZM6
      Related
      ENSP00000374424.2, ENST00000389774.6
      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_001198726.2NP_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/TrEMBL
      Q6PCC7
      Related
      ENSP00000337287.4, ENST00000336963.8
      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_181335.3NP_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/TrEMBL
      Q86XV6, Q8IZM6
      Related
      ENSP00000348407.6, ENST00000356099.11
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      44752575..44862784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      45236322..45346305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)