GNAQ

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GNAQ
Protein GNAQ PDB 2bcj.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GNAQ, CMC1, G-ALPHA-q, GAQ, SWS, G protein subunit alpha q
External IDs MGI: 95776 HomoloGene: 1566 GeneCards: 2776
RNA expression pattern
PBB GE GNAQ 202615 at tn.png

PBB GE GNAQ 211426 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002072

NM_008139

RefSeq (protein)

NP_002063.2
NP_002063.2

NP_032165.3

Location (UCSC) Chr 9: 77.72 – 78.03 Mb Chr 19: 16.13 – 16.39 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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[edit]

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[edit]

GNAQ has been shown to interact with:

See also[edit]

References[edit]

  1. ^ Dong Q, Shenker A, Way J, Haddad BR, Lin K, Hughes MR, McBride OW, Spiegel AM, Battey J (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. doi:10.1006/geno.1995.1267. PMID 8825633. 
  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, North PE, Marchuk DA, Comi AM, Pevsner J (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. doi:10.1056/NEJMoa1213507. PMID 23656586. 
  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. doi:10.1021/bi034442+. PMID 12885252. 
  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. doi:10.1073/pnas.95.21.12197. PMC 22808. PMID 9770463. 
  7. ^ a b
  8. ^ Druey KM, Sullivan BM, Brown D, Fischer ER, Watson N, Blumer KJ, Gerfen CR, Scheschonka A, Kehrl JH (July 1998). "Expression of GTPase-deficient Gialpha2 results in translocation of cytoplasmic RGS4 to the plasma membrane". J. Biol. Chem. 273 (29): 18405–10. doi:10.1074/jbc.273.29.18405. PMID 9660808. 
  9. ^ Klattenhoff C, Montecino M, Soto X, Guzmán L, Romo X, García MA, Mellstrom B, Naranjo JR, Hinrichs MV, Olate J (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. doi:10.1002/jcp.10300. PMID 12652642. 
  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. doi:10.1074/jbc.M211862200. PMID 12509430. 
  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. doi:10.1074/jbc.M207910200. PMID 12193606. 

Further reading[edit]