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
AliasesARHGAP31, AOS1, CDGAP, Rho GTPase activating protein 31
External IDsOMIM: 610911 MGI: 1333857 HomoloGene: 10644 GeneCards: ARHGAP31
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3q13.32-q13.33Start119,294,383 bp[1]
End119,420,714 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 16: 38.6 – 38.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. GRCh38: Ensembl release 89: ENSG00000031081 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000022799 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "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 3146732. PMID 21565291.

Further reading

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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.