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Open Access Articles- Top Results for GNAQ

GNAQ

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Identifiers
SymbolsGNAQ ; CMC1; G-ALPHA-q; GAQ; SWS
External IDsOMIM600998 MGI95776 HomoloGene1566 GeneCards: GNAQ Gene
RNA expression pattern
File:PBB GE GNAQ 202615 at tn.png
File:PBB GE GNAQ 211426 x at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez277614682
EnsemblENSG00000156052ENSMUSG00000024639
UniProtP50148P21279
RefSeq (mRNA)NM_002072NM_008139
RefSeq (protein)NP_002063NP_032165
Location (UCSC)Chr 9:
80.33 – 80.65 Mb
Chr 19:
16.13 – 16.39 Mb
PubMed search[1][2]

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.[1] Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.[2]

Function

Further information: Gq alpha subunit

Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GDP for GTP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM][3]

Mutations in this gene have been found associated to cases of Sturge-Weber syndrome and port-wine stains.[4]

Interactions

GNAQ has been shown to interact with:

See also

References

  1. ^ Dong Q, Shenker A, Way J, Haddad BR, Lin K, Hughes MR et al. (February 1997). "Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene". Genomics 30 (3): 470–75. PMID 8825633. doi:10.1006/geno.1995.1267. 
  2. ^ 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11 at OMIM. Retrieved January 1, 2015.
  3. ^ "Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide". 
  4. ^ Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B et al. (May 23, 2013). "Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.". The New England Journal of Medicine 368 (21): 1971–9. PMID 23656586. doi:10.1056/NEJMoa1213507. 
  5. ^ Day PW, Carman CV, Sterne-Marr R, Benovic JL, Wedegaertner PB (August 2003). "Differential interaction of GRK2 with members of the G alpha q family". Biochemistry 42 (30): 9176–84. PMID 12885252. doi:10.1021/bi034442+. 
  6. ^ Ma YC, Huang XY (October 1998). "Identification of the binding site for Gqalpha on its effector Bruton's tyrosine kinase". Proc. Natl. Acad. Sci. U.S.A. 95 (21): 12197–201. PMC 22808. PMID 9770463. doi:10.1073/pnas.95.21.12197. 
  7. ^ a b
  8. ^ Druey KM, Sullivan BM, Brown D, Fischer ER, Watson N, Blumer KJ et al. (July 1998). "Expression of GTPase-deficient Gialpha2 results in translocation of cytoplasmic RGS4 to the plasma membrane". J. Biol. Chem. 273 (29): 18405–10. PMID 9660808. doi:10.1074/jbc.273.29.18405. 
  9. ^ Klattenhoff C, Montecino M, Soto X, Guzmán L, Romo X, García MA et al. (May 2003). "Human brain synembryn interacts with Gsalpha and Gqalpha and is translocated to the plasma membrane in response to isoproterenol and carbachol". J. Cell. Physiol. 195 (2): 151–7. PMID 12652642. doi:10.1002/jcp.10300. 
  10. ^ Tall GG, Krumins AM, Gilman AG (March 2003). "Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor". J. Biol. Chem. 278 (10): 8356–62. PMID 12509430. doi:10.1074/jbc.M211862200. 
  11. ^ Rochdi MD, Watier V, La Madeleine C, Nakata H, Kozasa T, Parent JL (October 2002). "Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50)". J. Biol. Chem. 277 (43): 40751–9. PMID 12193606. doi:10.1074/jbc.M207910200. 


Further reading

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