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

Gene ID: 23779, updated on 22-Aug-2020

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
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

Genomic context

See ARHGAP8 in Genome Data Viewer
Location:
22q13.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (44752575..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

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
Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.
GeneReviews: Not available
Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
GeneReviews: Not available
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
GeneReviews: Not available

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

Homology

Clone Names

  • FLJ20185

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
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
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)

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
    P85298
    UniProtKB/TrEMBL
    Q6PJW1
    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/Swiss-Prot
    P85298
    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/Swiss-Prot
    P85298
    UniProtKB/TrEMBL
    Q6PJW1
    Related
    ENSP00000348407.6, ENST00000356099.10
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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