From Wikipedia, the free encyclopedia
Jump to: navigation, search
Guanine nucleotide binding protein (G protein), q polypeptide
Protein GNAQ PDB 2bcj.png
PDB rendering based on 2bcj.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols GNAQ ; CMC1; G-ALPHA-q; GAQ; SWS
External IDs OMIM600998 MGI95776 HomoloGene1566 GeneCards: GNAQ Gene
RNA expression pattern
PBB GE GNAQ 202615 at tn.png
PBB GE GNAQ 211426 x at tn.png
More reference expression data
Species Human Mouse
Entrez 2776 14682
Ensembl ENSG00000156052 ENSMUSG00000024639
UniProt P50148 P21279
RefSeq (mRNA) NM_002072 NM_008139
RefSeq (protein) NP_002063 NP_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]

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][2]

Mutations in this gene have been found associated to cases of Sturge-Weber syndrome and port-wine stains.[3]


GNAQ has been shown to interact with Sodium-hydrogen antiporter 3 regulator 1,[4] RIC8A,[5][6] RGS16,[7] Beta adrenergic receptor kinase,[8] RGS4[7][9] and Bruton's tyrosine kinase.[10]

See also[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. ^ "Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide". 
  3. ^ 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. 
  4. ^ Rochdi, Moulay Driss; Watier Valérie; La Madeleine Carole; Nakata Hiroko; Kozasa Tohru; Parent Jean-Luc (October 2002). "Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50)". J. Biol. Chem. (United States) 277 (43): 40751–9. doi:10.1074/jbc.M207910200. ISSN 0021-9258. PMID 12193606. 
  5. ^ Klattenhoff, Carla; Montecino Martín; Soto Ximena; Guzmán Leonardo; Romo Ximena; García María Angeles; Mellstrom Britt; Naranjo José Ramón; Hinrichs María Victoria; Olate Juan (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. (United States) 195 (2): 151–7. doi:10.1002/jcp.10300. ISSN 0021-9541. PMID 12652642. 
  6. ^ Tall, Gregory G; Krumins Andrejs M; Gilman Alfred G (March 2003). "Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor". J. Biol. Chem. (United States) 278 (10): 8356–62. doi:10.1074/jbc.M211862200. ISSN 0021-9258. PMID 12509430. 
  7. ^ a b
  8. ^ Day, Peter W; Carman Christopher V, Sterne-Marr Rachel, Benovic Jeffrey L, Wedegaertner Philip B (August 2003). "Differential interaction of GRK2 with members of the G alpha q family". Biochemistry (United States) 42 (30): 9176–84. doi:10.1021/bi034442. ISSN 0006-2960. PMID 12885252. 
  9. ^ Druey, K M; Sullivan B M; Brown D; Fischer E R; Watson N; Blumer K J; Gerfen C R; Scheschonka A; Kehrl J H (July 1998). "Expression of GTPase-deficient Gialpha2 results in translocation of cytoplasmic RGS4 to the plasma membrane". J. Biol. Chem. (UNITED STATES) 273 (29): 18405–10. doi:10.1074/jbc.273.29.18405. ISSN 0021-9258. PMID 9660808. 
  10. ^ Ma, Y C; Huang X Y (October 1998). "Identification of the binding site for Gqalpha on its effector Bruton's tyrosine kinase". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 95 (21): 12197–201. doi:10.1073/pnas.95.21.12197. ISSN 0027-8424. PMC 22808. PMID 9770463. 

Further reading[edit]