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ARHGAP6 Rho GTPase activating protein 6 [ Homo sapiens (human) ]

Gene ID: 395, updated on 13-Mar-2020

Summary

Official Symbol
ARHGAP6provided by HGNC
Official Full Name
Rho GTPase activating protein 6provided by HGNC
Primary source
HGNC:HGNC:676
See related
Ensembl:ENSG00000047648 MIM:300118
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
RHOGAP6; RHOGAPX-1
Summary
This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in prostate (RPKM 12.6), thyroid (RPKM 10.2) and 18 other tissues See more
Orthologs

Genomic context

See ARHGAP6 in Genome Data Viewer
Location:
Xp22.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (11137544..11665920, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11155663..11683821, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene midline 1 Neighboring gene MID1 promoter D Neighboring gene uncharacterized LOC107985627 Neighboring gene holocytochrome c synthase Neighboring gene glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) pseudogene Neighboring gene microRNA 548ax Neighboring gene amelogenin X-linked Neighboring gene NFE2L2 motif-containing MPRA enhancer 58 Neighboring gene Sharpr-MPRA regulatory region 13392 Neighboring gene uncharacterized LOC105373131 Neighboring gene LIM domain kinase 2 pseudogene

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
SH3/SH2 adaptor activity TAS
Traceable Author Statement
more info
PubMed 
phospholipase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Rho protein signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
actin filament polymerization NAS
Non-traceable Author Statement
more info
PubMed 
activation of phospholipase C activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
focal adhesion assembly IEA
Inferred from Electronic Annotation
more info
 
negative regulation of focal adhesion assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
actin filament NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 6
Names
Rho-type GTPase-activating protein RhoGAPX-1
rho-type GTPase-activating protein 6

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.

Genomic

  1. NG_012494.2 RefSeqGene

    Range
    4782..533158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001287242.2NP_001274171.1  rho GTPase-activating protein 6 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and CDS, and uses an alternate downstream translation start, compared to variant 1. The resulting protein (isoform 6) has a shorter N-terminus, compared to isoform 11.
    Source sequence(s)
    AB208792, AC002366, BC035785, BC150635, HY018118
    UniProtKB/Swiss-Prot
    O43182
    UniProtKB/TrEMBL
    Q59HG6
    Conserved Domains (1) summary
    cd04376
    Location:222428
    RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...
  2. NM_006125.3NP_006116.2  rho GTPase-activating protein 6 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the last two exons but has an alternate 3' segment at the 3' end, as compared to variant 1. The encoded isoform 3 has a distinct and shorter C-terminus, as compared to isoform 1.
    Source sequence(s)
    AB208792, AC004554, AF012272
    Consensus CDS
    CCDS14142.1
    UniProtKB/Swiss-Prot
    O43182
    UniProtKB/TrEMBL
    Q59HG6
    Related
    ENSP00000370094.1, ENST00000380718.1
    Conserved Domains (2) summary
    cd04376
    Location:402608
    RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...
    pfam17093
    Location:67137
    PBP_N; Penicillin-binding protein N-terminus
  3. NM_013423.3NP_038267.1  rho GTPase-activating protein 6 isoform 4

    See identical proteins and their annotated locations for NP_038267.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate 5' exon and the translation starts with a downstream AUG codon, as compared to variant 1. The encoded isoform 4 has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC002366, AC003657, AF177663
    Consensus CDS
    CCDS14141.1
    UniProtKB/Swiss-Prot
    O43182
    Related
    ENSP00000302312.6, ENST00000303025.10
    Conserved Domains (1) summary
    cd04376
    Location:199405
    RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...
  4. NM_013427.3NP_038286.2  rho GTPase-activating protein 6 isoform 1

    See identical proteins and their annotated locations for NP_038286.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC003657, AC004554, AF117067, AF177663
    Consensus CDS
    CCDS14140.1
    UniProtKB/Swiss-Prot
    O43182
    Related
    ENSP00000338967.4, ENST00000337414.9
    Conserved Domains (2) summary
    cd04376
    Location:402608
    RhoGAP_ARHGAP6; RhoGAP_ARHGAP6: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP6-like proteins. ArhGAP6 shows GAP activity towards RhoA, but not towards Cdc42 and Rac1. ArhGAP6 is often deleted in microphthalmia with linear skin ...
    pfam17093
    Location:67121
    PBP_N; Penicillin-binding protein N-terminus

RNA

  1. NR_109776.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB208792, AC004554, AF022212
    Related
    ENST00000495242.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    11137544..11665920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001174.3: Suppressed sequence

    Description
    NM_001174.3: This RefSeq was permanently suppressed because currently there is insufficient support for the protein, and it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_013422.2: Suppressed sequence

    Description
    NM_013422.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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