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    ARHGAP40 Rho GTPase activating protein 40 [ Homo sapiens (human) ]

    Gene ID: 343578, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ARHGAP40provided by HGNC
    Official Full Name
    Rho GTPase activating protein 40provided by HGNC
    Primary source
    HGNC:HGNC:16226
    See related
    Ensembl:ENSG00000124143 AllianceGenome:HGNC:16226
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C20orf95; dJ1100H13.4
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in regulation of actin filament polymerization and regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in skin (RPKM 12.2), esophagus (RPKM 3.7) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARHGAP40 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38601809..38650653)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (40331453..40380311)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (37230452..37279296)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Ral GTPase activating protein non-catalytic subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37189333-37189849 Neighboring gene ribosomal protein S3 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:37193517-37194017 Neighboring gene MPRA-validated peak4208 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:37229033-37229574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:37236926-37237426 Neighboring gene adipogenin Neighboring gene GINS complex subunit 2 (Psf2 homolog) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12900 Neighboring gene GATA motif-containing MPRA enhancer 112/113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12901 Neighboring gene MPRA-validated peak4211 silencer Neighboring gene VISTA enhancer hs2620 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr20:37342659-37343160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37354984-37355521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37355736-37356396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37357057-37357716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:37360147-37360672 Neighboring gene solute carrier family 32 member 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:37376699-37377200 Neighboring gene RN7SK pseudogene 173 Neighboring gene actin related protein 5

    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
    • 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. Loss of ARHGAP40 expression in basal cell carcinoma via CpG island hypermethylation. Yu N, et al. Exp Dermatol, 2023 Dec. PMID 37822129
    2. Mapping Extracellular Protein-Protein Interactions Using Extracellular Proximity Labeling (ePL). Peeney D, et al. J Proteome Res, 2024 Oct 4. PMID 39238192,
    3. Prohibitin 1 regulates tumor cell apoptosis via the interaction with X-linked inhibitor of apoptosis protein. Xu Y, et al. J Mol Cell Biol, 2016 Jun. PMID 27025967, Free PMC Article
    4. Systems analysis of RhoGEF and RhoGAP regulatory proteins reveals spatially organized RAC1 signalling from integrin adhesions. Müller PM, et al. Nat Cell Biol, 2020 Apr. PMID 32203420
    5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of ARHGAP40 expression in basal cell carcinoma via CpG island hypermethylation.
      Title: Loss of ARHGAP40 expression in basal cell carcinoma via CpG island hypermethylation.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: ADIG

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    rho GTPase-activating protein 40
    Names
    rho-type GTPase-activating protein 40

    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_001164431.3 → NP_001157903.2  rho GTPase-activating protein 40

      Status: INFERRED

      Source sequence(s)
      AL035419
      UniProtKB/Swiss-Prot
      Q5TG30
      UniProtKB/TrEMBL
      H7BXE0
      Related
      ENSP00000362442.5, ENST00000373345.9

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      38601809..38650653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      40331453..40380311
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TG30.4 GenPept UniProtKB/Swiss-Prot:Q5TG30

    Gene LinkOut

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

    Chemical Information
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