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]
^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. PMC3146732. PMID 21565291.
External linksEdit
Human ARHGAP31 genome location and ARHGAP31 gene details page in the UCSC Genome Browser.
Further readingEdit
Bandyopadhyay S, Chiang CY, Srivastava J, et al. (2010). "A human MAP kinase interactome". Nat. Methods. 7 (10): 801–5. doi:10.1038/nmeth.1506. PMC2967489. PMID 20936779.
Jenna S, Hussain NK, Danek EI, et al. (2002). "The activity of the GTPase-activating protein CdGAP is regulated by the endocytic protein intersectin". J. Biol. Chem. 277 (8): 6366–73. doi:10.1074/jbc.M105516200. PMID 11744688.
Zhao C, Ma H, Bossy-Wetzel E, et al. (2003). "GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2". J. Biol. Chem. 278 (36): 34641–53. doi:10.1074/jbc.M304594200. PMID 12819203.
Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science. 307 (5715): 1621–5. Bibcode:2005Sci...307.1621B. doi:10.1126/science.1105776. PMID 15761153. S2CID 39457788.
Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Danek EI, Tcherkezian J, Triki I, et al. (2007). "Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site". J. Biol. Chem. 282 (6): 3624–31. doi:10.1074/jbc.M610073200. PMID 17158447.
Nagase T, Ishikawa K, Kikuno R, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Tcherkezian J, Triki I, Stenne R, et al. (2006). "The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA". Biol. Cell. 98 (8): 445–56. doi:10.1042/BC20050101. PMID 16519628. S2CID 25545141.
Dubois PC, Trynka G, Franke L, et al. (2010). "Multiple common variants for celiac disease influencing immune gene expression". Nat. Genet. 42 (4): 295–302. doi:10.1038/ng.543. PMC2847618. PMID 20190752.
Lamarche-Vane N, Hall A (1998). "CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac". J. Biol. Chem. 273 (44): 29172–7. doi:10.1074/jbc.273.44.29172. PMID 9786927.
Horne BD, Hauser ER, Wang L, et al. (2009). "Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking". Ann. Hum. Genet. 73 (Pt 6): 551–8. doi:10.1111/j.1469-1809.2009.00540.x. PMC2764812. PMID 19706030.
arhgap31, gtpase, activating, protein, encoded, humans, gene, cdc42, rac1, gtpase, regulator, identifiersaliases, aos1, cdgap, gtpase, activating, protein, 31external, idsomim, 610911, 1333857, homologene, 10644, genecards, gene, location, human, chromosome, h. The Rho GTPase activating protein 31 is encoded in humans by the ARHGAP31 gene It is a Cdc42 Rac1 GTPase regulator 5 ARHGAP31IdentifiersAliasesARHGAP31 AOS1 CDGAP Rho GTPase activating protein 31External IDsOMIM 610911 MGI 1333857 HomoloGene 10644 GeneCards ARHGAP31Gene location Human Chr Chromosome 3 human 1 Band3q13 32 q13 33Start119 294 383 bp 1 End119 420 714 bp 1 Gene location Mouse Chr Chromosome 16 mouse 2 Band16 16 B4Start38 418 702 bp 2 End38 533 636 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intrigeminal ganglionright ventriclevena cavapancreatic ductal cellsynovial jointsynovial membranespinal gangliaright lunglower lobe of lungpericardiumTop expressed inright lung lobesciatic nervecumulus cellatriumleft lung lobeatrioventricular valveseminal vesiculaexternal carotid arteryinternal carotid arteryendocardial cushionMore reference expression dataBioGPSn aGene ontologyMolecular functionSH3 domain binding GTPase activator activityCellular componentcytosol cell junction cell projection focal adhesion lamellipodiumBiological processpositive regulation of GTPase activity regulation of small GTPase mediated signal transduction signal transduction small GTPase mediated signal transductionSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez5751412549EnsemblENSG00000031081ENSMUSG00000022799UniProtQ2M1Z3A6X8Z5RefSeq mRNA NM 020754NM 020260RefSeq protein NP 065805NP 064656Location UCSC Chr 3 119 29 119 42 MbChr 16 38 42 38 53 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical relevance 3 References 4 External links 5 Further readingFunction EditARHGAP31 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 EditARHGAP31 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 a b c GRCh38 Ensembl release 89 ENSG00000031081 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000022799 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene 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 External links EditHuman ARHGAP31 genome location and ARHGAP31 gene details page in the UCSC Genome Browser Further reading EditBandyopadhyay S Chiang CY Srivastava J et al 2010 A human MAP kinase interactome Nat Methods 7 10 801 5 doi 10 1038 nmeth 1506 PMC 2967489 PMID 20936779 Jenna S Hussain NK Danek EI et al 2002 The activity of the GTPase activating protein CdGAP is regulated by the endocytic protein intersectin J Biol Chem 277 8 6366 73 doi 10 1074 jbc M105516200 PMID 11744688 Zhao C Ma H Bossy Wetzel E et al 2003 GC GAP a Rho family GTPase activating protein that interacts with signaling adapters Gab1 and Gab2 J Biol Chem 278 36 34641 53 doi 10 1074 jbc M304594200 PMID 12819203 Barrios Rodiles M Brown KR Ozdamar B et al 2005 High throughput mapping of a dynamic signaling network in mammalian cells Science 307 5715 1621 5 Bibcode 2005Sci 307 1621B doi 10 1126 science 1105776 PMID 15761153 S2CID 39457788 Bonaldo MF Lennon G Soares MB 1996 Normalization and subtraction two approaches to facilitate gene discovery Genome Res 6 9 791 806 doi 10 1101 gr 6 9 791 PMID 8889548 Danek EI Tcherkezian J Triki I et al 2007 Glycogen synthase kinase 3 phosphorylates CdGAP at a consensus ERK 1 regulatory site J Biol Chem 282 6 3624 31 doi 10 1074 jbc M610073200 PMID 17158447 Nagase T Ishikawa K Kikuno R et al 1999 Prediction of the coding sequences of unidentified human genes XV The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro DNA Res 6 5 337 45 doi 10 1093 dnares 6 5 337 PMID 10574462 Strausberg RL Feingold EA Grouse LH et al 2002 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Tcherkezian J Triki I Stenne R et al 2006 The human orthologue of CdGAP is a phosphoprotein and a GTPase activating protein for Cdc42 and Rac1 but not RhoA Biol Cell 98 8 445 56 doi 10 1042 BC20050101 PMID 16519628 S2CID 25545141 Dubois PC Trynka G Franke L et al 2010 Multiple common variants for celiac disease influencing immune gene expression Nat Genet 42 4 295 302 doi 10 1038 ng 543 PMC 2847618 PMID 20190752 Lamarche Vane N Hall A 1998 CdGAP a novel proline rich GTPase activating protein for Cdc42 and Rac J Biol Chem 273 44 29172 7 doi 10 1074 jbc 273 44 29172 PMID 9786927 Horne BD Hauser ER Wang L et al 2009 Validation study of genetic associations with coronary artery disease on chromosome 3q13 21 and potential effect modification by smoking Ann Hum Genet 73 Pt 6 551 8 doi 10 1111 j 1469 1809 2009 00540 x PMC 2764812 PMID 19706030 This article incorporates text from the United States National Library of Medicine which is in the public domain This article on a gene on human chromosome 3 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title ARHGAP31 amp oldid 1170967619, 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