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

Gene ID: 343578, updated on 3-Apr-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (38601809..38650653)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (40331453..40380311)
105.20220307 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. 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
  2. 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
  3. 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
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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)

Genotypes

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
    Related
    ENSP00000362442.5, ENST00000373345.9

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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.

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