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ARHGAP29

From Wikipedia, the free encyclopedia

ARHGAP29
Identifiers
AliasesARHGAP29, PARG1, Rho GTPase activating protein 29
External IDsOMIM: 610496; MGI: 2443818; HomoloGene: 3539; GeneCards: ARHGAP29; OMA:ARHGAP29 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004815
NM_001328664
NM_001328665
NM_001328666
NM_001328667

NM_172525
NM_001356524

RefSeq (protein)

NP_001315593
NP_001315594
NP_001315595
NP_001315596
NP_004806

NP_766113
NP_001343453

Location (UCSC)Chr 1: 94.15 – 94.28 MbChr 3: 121.75 – 121.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ARHGAP29 is a gene located on chromosome 1p22 that encodes Rho GTPase activating protein (GAP) 29,[5] a protein that mediates the cyclical regulation of small GTP binding proteins such as RhoA.[6]

Function

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ARHGAP29 is expressed in the developing face and may act downstream of IRF6 in craniofacial development.[7]

Structure

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ARHGAP29 contains four domains including a coiled-coil region known to interact with Rap2,[8] a C1 domain, the Rho GTPase domain, and a small C-terminal region that interacts with PTPL1.[6]

Clinical significance

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The 1p22 locus containing ARHGAP29 was associated with nonsyndromic cleft lip/palate by genome wide association[9] and meta-analysis.[10] A follow-up study[7] identified rare coding variants including a nonsense and a frameshift variant in patients with nonsyndromic cleft lip/palate. The finding of ARHGAP29's role in craniofacial development was discovered after the adjacent ABCA4 gene lacked functional or expression data to support it as the etiologic gene for nonsyndromic cleft lip/palate even though SNPs in the ABCA4 gene were associated with cleft lip/palate.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000137962Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039831Ensembl, 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. ^ Heasman SJ, Ridley AJ (September 2008). "Mammalian Rho GTPases: new insights into their functions from in vivo studies". Nature Reviews. Molecular Cell Biology. 9 (9): 690–701. doi:10.1038/nrm2476. PMID 18719708. S2CID 16205866.
  6. ^ a b Saras J, Franzén P, Aspenström P, Hellman U, Gonez LJ, Heldin CH (September 1997). "A novel GTPase-activating protein for Rho interacts with a PDZ domain of the protein-tyrosine phosphatase PTPL1". The Journal of Biological Chemistry. 272 (39): 24333–24338. doi:10.1074/jbc.272.39.24333. PMID 9305890.
  7. ^ a b Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, et al. (November 2012). "Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22". Birth Defects Research. Part A, Clinical and Molecular Teratology. 94 (11): 934–942. doi:10.1002/bdra.23076. PMC 3501616. PMID 23008150.
  8. ^ Myagmar BE, Umikawa M, Asato T, Taira K, Oshiro M, Hino A, et al. (April 2005). "PARG1, a protein-tyrosine phosphatase-associated RhoGAP, as a putative Rap2 effector". Biochemical and Biophysical Research Communications. 329 (3): 1046–1052. doi:10.1016/j.bbrc.2005.02.069. PMID 15752761.
  9. ^ Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, et al. (June 2010). "A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4". Nature Genetics. 42 (6): 525–529. doi:10.1038/ng.580. PMC 2941216. PMID 20436469.
  10. ^ Ludwig KU, Mangold E, Herms S, Nowak S, Reutter H, Paul A, et al. (September 2012). "Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci". Nature Genetics. 44 (9): 968–971. doi:10.1038/ng.2360. PMC 3598617. PMID 22863734.
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