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

    Gene ID: 395, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:676
    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
    mouse all
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    Genomic context

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    See ARHGAP6 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (11137544..11665920, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (10720022..11248464, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (11155664..11684040, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene HCCS divergent transcript Neighboring gene uncharacterized LOC124905243 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:11025249-11025760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29410 Neighboring gene holocytochrome c synthase Neighboring gene Sharpr-MPRA regulatory region 12683 Neighboring gene FAM9C pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:11323088-11323736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20658 Neighboring gene microRNA 548ax Neighboring gene amelogenin X-linked Neighboring gene Sharpr-MPRA regulatory region 12383 Neighboring gene GOT2 pseudogene 7 Neighboring gene uncharacterized LOC124905246 Neighboring gene NFE2L2 motif-containing MPRA enhancer 58 Neighboring gene Sharpr-MPRA regulatory region 13392 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:11583538-11584150 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:11584151-11584762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20659 Neighboring gene NANOG hESC enhancer GRCh37_chrX:11699422-11699959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:11722255-11722754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:11722771-11723272 Neighboring gene uncharacterized LOC105373131 Neighboring gene LIMK2 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. ARHGAP6 Suppresses Breast Cancer Tumor Growth by Promoting Ferroptosis via RhoA-ROCK1-p38 MAPK Signaling. Chen X, et al. Front Biosci (Landmark Ed), 2024 Jan 12. PMID 38287795
    2. RhoGAP6 interacts with COPI to regulate protein transport. O'Donoghue L, et al. Biochem J, 2023 Jul 26. PMID 37409526
    3. ARHGAP6 inhibits bladder cancer cell viability, migration, and invasion via β-catenin signaling and enhances mitomycin C sensitivity. Chen W, et al. Hum Cell, 2023 Mar. PMID 36715867
    4. Expression in Escherichia coli of human ARHGAP6 gene and purification of His-tagged recombinant protein. Ochocka AM, et al. Acta Biochim Pol, 2003. PMID 12673365
    5. Identification of Rho GTPase activating protein 6 isoform 1 variant as a new molecular marker in human colorectal tumors. Guo F, et al. Pathol Oncol Res, 2010 Sep. PMID 19960375

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARHGAP6 Suppresses Breast Cancer Tumor Growth by Promoting Ferroptosis via RhoA-ROCK1-p38 MAPK Signaling.
      Title: ARHGAP6 Suppresses Breast Cancer Tumor Growth by Promoting Ferroptosis via RhoA-ROCK1-p38 MAPK Signaling.
    2. RhoGAP6 interacts with COPI to regulate protein transport.
      Title: RhoGAP6 interacts with COPI to regulate protein transport.
    3. ARHGAP6 inhibits bladder cancer cell viability, migration, and invasion via beta-catenin signaling and enhances mitomycin C sensitivity.
      Title: ARHGAP6 inhibits bladder cancer cell viability, migration, and invasion via β-catenin signaling and enhances mitomycin C sensitivity.
    4. MiR-96-5p is an oncogene in lung adenocarcinoma and facilitates tumor progression through ARHGAP6 downregulation.
      Title: MiR-96-5p is an oncogene in lung adenocarcinoma and facilitates tumor progression through ARHGAP6 downregulation.
    5. ARHGAP6 was found to have low expression in tumor tissues from patients with lung cancer, accompanied by high expression of MMP9 and VEGF. In A549 and H1299 cells, upregulation of ARHGAP6 inhibited tumor growth and metastasis and reduced the levels of MMP9, VEGF and pSTAT3, while the levels STAT3 were unchanged.
      Title: ARHGAP6 regulates the proliferation, migration and invasion of lung cancer cells.
    6. Failed ARHGAP6 expression did not appreciably alter the severity of enamel defects when AMELX was absent.
      Title: Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.
    7. the RhoGAP6 isoform 1 variant might serve as a biomarker for the development and progression of colorectal cancer
      Title: Identification of Rho GTPase activating protein 6 isoform 1 variant as a new molecular marker in human colorectal tumors.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    10. Human ARHGAP6 protein possessing GTPase stimulating activity for RhoA on the catalytic properties of PLC-delta1, was studied.
      Title: Regulation of phospholipase C-delta1 by ARGHAP6, a GTPase-activating protein for RhoA: possible role for enhanced activity of phospholipase C in hypertension.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    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)

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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.

    Genomic

    1. NG_012494.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001287242.2 → NP_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/TrEMBL
      A8KAL3
      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 ...

    2. NM_006125.3 → NP_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/TrEMBL
      Q59HG6
      Related
      ENSP00000370094.1, ENST00000380718.1
      Conserved Domains (2) summary
      cd04376
      Location:402 → 608
      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:67 → 137
      PBP_N; Penicillin-binding protein N-terminus

    3. NM_013423.3 → NP_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:199 → 405
      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_013427.3 → NP_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
      B2RWQ0, O43182, O43437, Q9P1B3, Q9UK81, Q9UK82
      UniProtKB/TrEMBL
      A8KAL3
      Related
      ENSP00000338967.4, ENST00000337414.9
      Conserved Domains (2) summary
      cd04376
      Location:402 → 608
      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:67 → 121
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      10720022..11248464 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43182.3 GenPept UniProtKB/Swiss-Prot:O43182

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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