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Arhgap6 Rho GTPase activating protein 6 [ Mus musculus (house mouse) ]

Gene ID: 11856, updated on 9-May-2024

Summary

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Official Symbol
Arhgap6provided by MGI
Official Full Name
Rho GTPase activating protein 6provided by MGI
Primary source
MGI:MGI:1196332
See related
Ensembl:ENSMUSG00000031355 AllianceGenome:MGI:1196332
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
RhoGAPX-1
Summary
Enables GTPase activator activity. Involved in positive regulation of GTPase activity. Acts upstream of or within actin filament organization; focal adhesion assembly; and regulation of GTPase activity. Located in actin cytoskeleton. Used to study microphthalmia. Orthologous to human ARHGAP6 (Rho GTPase activating protein 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 2.0), lung adult (RPKM 1.8) and 26 other tissues See more
Orthologs
human all
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Genomic context

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Location:
X F5; X 78.77 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (167578091..168087436)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (168795094..169304440)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chrX:165110350-165110651 Neighboring gene predicted gene, 39550 Neighboring gene MSL complex subunit 3 Neighboring gene STARR-seq mESC enhancer starr_48278 Neighboring gene STARR-seq mESC enhancer starr_48279 Neighboring gene STARR-seq mESC enhancer starr_48280 Neighboring gene STARR-positive B cell enhancer mm9_chrX:165523946-165524246 Neighboring gene STARR-seq mESC enhancer starr_48281 Neighboring gene amelogenin, X-linked Neighboring gene predicted gene 15246 Neighboring gene holocytochrome c synthetase

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Schaefer L, et al. Genomics, 1997 Dec 1. PMID 9417914
  2. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Prakash SK, et al. Hum Mol Genet, 2002 Dec 1. PMID 12444108
  3. Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. Van den Veyver IB, et al. Genomics, 1998 Jul 15. PMID 9722948
  4. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. Cormier TA, et al. Mamm Genome, 2001 Oct. PMID 11668396
  5. Arhgap28 is a RhoGAP that inactivates RhoA and downregulates stress fibers. Yeung CY, et al. PLoS One, 2014. PMID 25211221, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice
    Title: Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (3)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • C130038E13

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
  
enables phospholipase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phospholipase activator activity ISO
Inferred from Sequence Orthology
more info
  
enables phospholipase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phospholipase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within actin filament organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in activation of phospholipase C activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in activation of phospholipase C activity ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within focal adhesion assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of focal adhesion assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of stress fiber assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of phospholipase activity ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001287530.1 → NP_001274459.1  rho GTPase-activating protein 6 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the use of an alternate promoter, differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AL663026, AL805974, AL831750
    Consensus CDS
    CCDS72472.1
    UniProtKB/Swiss-Prot
    O54834
    Related
    ENSMUSP00000107755.2, ENSMUST00000112127.2
    Conserved Domains (1) summary
    cd04376
    Location:212 → 418
    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_009707.4 → NP_033837.2  rho GTPase-activating protein 6 isoform a

    See identical proteins and their annotated locations for NP_033837.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL663056, AL805974, AL831750
    Consensus CDS
    CCDS30534.1
    UniProtKB/Swiss-Prot
    A2ABW4, A2AC55, O54834, Q3TMC2, Q8BG83, Q8C842, Q9QZL8
    Related
    ENSMUSP00000033721.7, ENSMUST00000033721.13
    Conserved Domains (1) summary
    cd04376
    Location:404 → 610
    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 defects syndrome (MLS) ...

  3. NM_178754.3 → NP_848869.1  rho GTPase-activating protein 6 isoform b

    See identical proteins and their annotated locations for NP_848869.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the use of an alternate promoter, differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK047827, AK048162, AL831750
    Consensus CDS
    CCDS41212.1
    UniProtKB/Swiss-Prot
    O54834
    UniProtKB/TrEMBL
    Q8C8B2
    Related
    ENSMUSP00000107759.3, ENSMUST00000112131.9
    Conserved Domains (1) summary
    cd04376
    Location:222 → 428
    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 ...

RNA

  1. NR_109847.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the use of an alternate promoter, contains an alternate 5' terminal exon and contains 2 alternate exons in the 3' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK047827, AK048162, AK079651, AL831750
    Related
    ENSMUST00000139146.8

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    167578091..168087436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006528694.2 → XP_006528757.1  rho GTPase-activating protein 6 isoform X1

    See identical proteins and their annotated locations for XP_006528757.1

    UniProtKB/Swiss-Prot
    A2ABW4, A2AC55, O54834, Q3TMC2, Q8BG83, Q8C842, Q9QZL8
    Conserved Domains (1) summary
    cd04376
    Location:404 → 610
    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 defects syndrome (MLS) ...

RNA

  1. XR_004940320.1 RNA Sequence

  2. XR_003952996.2 RNA Sequence

  3. XR_004940321.1 RNA Sequence

  4. XR_004940322.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O54834.3 GenPept UniProtKB/Swiss-Prot:O54834

Gene LinkOut

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