ARHGAP31

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ARHGAP31
Identifiers
Aliases ARHGAP31, AOS1, CDGAP, Rho GTPase activating protein 31
External IDs MGI: 1333857 HomoloGene: 10644 GeneCards: ARHGAP31
Gene location (Human)
Chromosome 3 (human)
Chr. Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for ARHGAP31
Genomic location for ARHGAP31
Band 3q13.32-q13.33 Start 119,294,373 bp[1]
End 119,420,714 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020754

NM_020260

RefSeq (protein)

NP_065805

NP_064656

Location (UCSC) Chr 3: 119.29 – 119.42 Mb Chr 16: 38.6 – 38.71 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000031081 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022799 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b "Entrez Gene:". 
  6. ^ Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, Fitzpatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC (May 2011). "Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies". Am. J. Hum. Genet. 88 (5): 574–85. doi:10.1016/j.ajhg.2011.04.013. PMC 3146732Freely accessible. PMID 21565291. 

External links[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.