ARHGAP31

The Rho GTPase activating protein 31 is encoded in humans by the ARHGAP31 gene. It is a Cdc42/Rac1 GTPase regulator.^[5]

ARHGAP31
Identifiers
Aliases	ARHGAP31, AOS1, CDGAP, Rho GTPase activating protein 31
External IDs	OMIM: 610911; MGI: 1333857; HomoloGene: 10644; GeneCards: ARHGAP31; OMA:ARHGAP31 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3q13.32-q13.33 Start 119,294,383 bp[1] End 119,420,714 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 B4 Start 38,418,702 bp[2] End 38,533,636 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cardiac muscle tissue of right atrium myocardium of left ventricle trigeminal ganglion skin of arm right ventricle vena cava epithelium of colon pancreatic ductal cell synovial joint synovial membrane Top expressed in right lung lobe sciatic nerve cumulus cell atrium left lung lobe atrioventricular valve endothelial cell of lymphatic vessel seminal vesicula epithelium of lens external carotid artery More reference expression data BioGPS n/a
Gene ontology Molecular function SH3 domain binding GTPase activator activity Cellular component cytosol cell junction cell projection focal adhesion lamellipodium Biological process positive regulation of GTPase activity regulation of small GTPase mediated signal transduction signal transduction small GTPase mediated signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57514 12549 Ensembl ENSG00000031081 ENSMUSG00000022799 UniProt Q2M1Z3 A6X8Z5 RefSeq (mRNA) NM_020754 NM_020260 RefSeq (protein) NP_065805 NP_064656 Location (UCSC) Chr 3: 119.29 – 119.42 Mb Chr 16: 38.42 – 38.53 Mb PubMed search [3] [4]
Wikidata
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Function

ARHGAP31 encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth.^[5]

Clinical relevance

ARHGAP31 mutations result in a loss of available active Cdc42 and consequently disrupt actin cytoskeletal structures, causing syndromic cutis aplasia and limb anomalies.^[6]