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

    Gene ID: 11856, updated on 27-Nov-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 and focal adhesion assembly. Located in actin cytoskeleton. Is expressed in lower leg bone. Used to study microphthalmia. Orthologous to human ARHGAP6 (Rho GTPase activating protein 6). [provided by Alliance of Genome Resources, Nov 2024]
    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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    See Arhgap6 in Genome Data Viewer
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phospholipase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within actin filament organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in focal adhesion assembly IBA
    Inferred from Biological aspect of Ancestor
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of focal adhesion assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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

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