GNAQ

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.{{cite journal | vauthors = Dong Q, Shenker A, Way J, Haddad BR, Lin K, Hughes MR, McBride OW, Spiegel AM, Battey J | title = Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene | journal = Genomics | volume = 30 | issue = 3 | pages = 470–75 | date = February 1997 | pmid = 8825633 | doi = 10.1006/geno.1995.1267 | url = https://zenodo.org/record/1229691 }} Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.[http://www.omim.org/entry/139313 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11] at OMIM. Retrieved January 1, 2015.

Function

{{Further|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]{{cite web | title = Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2776}}

Mutations in this gene have been found associated to cases of Sturge–Weber syndrome and port-wine stains.{{cite journal | vauthors = Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J | title = Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. | journal = The New England Journal of Medicine | volume = 368 | issue = 21 | pages = 1971–9 | date = May 23, 2013 | pmid = 23656586 | doi = 10.1056/NEJMoa1213507 | pmc=3749068}}

Interactions

GNAQ has been shown to interact with:

  • Beta adrenergic receptor kinase,{{cite journal | vauthors = Day PW, Carman CV, Sterne-Marr R, Benovic JL, Wedegaertner PB | title = Differential interaction of GRK2 with members of the G alpha q family | journal = Biochemistry | volume = 42 | issue = 30 | pages = 9176–84 | date = August 2003 | pmid = 12885252 | doi = 10.1021/bi034442+ }}
  • Bruton's tyrosine kinase,{{cite journal | vauthors = Ma YC, Huang XY | title = Identification of the binding site for Gqalpha on its effector Bruton's tyrosine kinase | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 95 | issue = 21 | pages = 12197–201 | date = October 1998 | pmid = 9770463 | pmc = 22808 | doi = 10.1073/pnas.95.21.12197| bibcode = 1998PNAS...9512197M | doi-access = free }}
  • RGS16
  • RGS4{{cite journal | vauthors = Druey KM, Sullivan BM, Brown D, Fischer ER, Watson N, Blumer KJ, Gerfen CR, Scheschonka A, Kehrl JH | title = Expression of GTPase-deficient Gialpha2 results in translocation of cytoplasmic RGS4 to the plasma membrane | journal = J. Biol. Chem. | volume = 273 | issue = 29 | pages = 18405–10 | date = July 1998 | pmid = 9660808 | doi = 10.1074/jbc.273.29.18405| doi-access = free }}
  • RIC8A,{{cite journal | vauthors = Klattenhoff C, Montecino M, Soto X, Guzmán L, Romo X, García MA, Mellstrom B, Naranjo JR, Hinrichs MV, Olate J | title = Human brain synembryn interacts with Gsalpha and Gqalpha and is translocated to the plasma membrane in response to isoproterenol and carbachol | journal = J. Cell. Physiol. | volume = 195 | issue = 2 | pages = 151–7 | date = May 2003 | pmid = 12652642 | doi = 10.1002/jcp.10300 | hdl = 10533/174200 | s2cid = 84975473 | hdl-access = free }}{{cite journal | vauthors = Tall GG, Krumins AM, Gilman AG | title = Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor | journal = J. Biol. Chem. | volume = 278 | issue = 10 | pages = 8356–62 | date = March 2003 | pmid = 12509430 | doi = 10.1074/jbc.M211862200 | doi-access = free }} and
  • Sodium-hydrogen antiporter 3 regulator 1.{{cite journal | vauthors = Rochdi MD, Watier V, La Madeleine C, Nakata H, Kozasa T, Parent JL | title = Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50) | journal = J. Biol. Chem. | volume = 277 | issue = 43 | pages = 40751–9 | date = October 2002 | pmid = 12193606 | doi = 10.1074/jbc.M207910200 | doi-access = free }}

See also

References

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Further reading

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  • {{cite journal | vauthors = Raymond JR, Mukhin YV, Gelasco A, Turner J, Collinsworth G, Gettys TW, Grewal JS, Garnovskaya MN | title = Multiplicity of mechanisms of serotonin receptor signal transduction. | journal = Pharmacol. Ther. | volume = 92 | issue = 2–3 | pages = 179–212 | year = 2002 | pmid = 11916537 | doi = 10.1016/S0163-7258(01)00169-3 }}
  • {{cite journal | vauthors = Van Oekelen D, Luyten WH, Leysen JE | title = 5-HT2A and 5-HT2C receptors and their atypical regulation properties. | journal = Life Sci. | volume = 72 | issue = 22 | pages = 2429–49 | year = 2003 | pmid = 12650852 | doi = 10.1016/S0024-3205(03)00141-3 }}
  • {{cite journal | vauthors = Lesch KP, Manji HK | title = Signal-transducing G proteins and antidepressant drugs: evidence for modulation of alpha subunit gene expression in rat brain. | journal = Biol. Psychiatry | volume = 32 | issue = 7 | pages = 549–79 | year = 1992 | pmid = 1333286 | doi = 10.1016/0006-3223(92)90070-G | s2cid = 927009 | url = https://zenodo.org/record/1253834 }}
  • {{cite journal | vauthors = Thomas CP, Dunn MJ, Mattera R | title = Ca2+ signalling in K562 human erythroleukaemia cells: effect of dimethyl sulphoxide and role of G-proteins in thrombin- and thromboxane A2-activated pathways. | journal = Biochem. J. | volume = ( Pt 1) | pages = 151–8 | year = 1996 | pmid = 7492305 | pmc = 1136238 | doi = 10.1042/bj3120151| series = 312 | issue = Pt 1 }}
  • {{cite journal | vauthors = Blin N, Yun J, Wess J | title = Mapping of single amino acid residues required for selective activation of Gq/11 by the m3 muscarinic acetylcholine receptor. | journal = J. Biol. Chem. | volume = 270 | issue = 30 | pages = 17741–8 | year = 1995 | pmid = 7629074 | doi = 10.1074/jbc.270.30.17741 | doi-access = free }}
  • {{cite journal | vauthors = Kabouridis PS, Waters ST, Escobar S, Stanners J, Tsoukas CD | title = Expression of GTP-binding protein alpha subunits in human thymocytes. | journal = Mol. Cell. Biochem. | volume = 144 | issue = 1 | pages = 45–51 | year = 1995 | pmid = 7791744 | doi = 10.1007/BF00926739 | s2cid = 8911988 }}
  • {{cite journal | vauthors = Allgeier A, Offermanns S, Van Sande J, Spicher K, Schultz G, Dumont JE | title = The human thyrotropin receptor activates G-proteins Gs and Gq/11. | journal = J. Biol. Chem. | volume = 269 | issue = 19 | pages = 13733–5 | year = 1994 | doi = 10.1016/S0021-9258(17)36705-4 | pmid = 8188646 | doi-access = free }}
  • {{cite journal | vauthors = Wedegaertner PB, Chu DH, Wilson PT, Levis MJ, Bourne HR | title = Palmitoylation is required for signaling functions and membrane attachment of Gq alpha and Gs alpha. | journal = J. Biol. Chem. | volume = 268 | issue = 33 | pages = 25001–8 | year = 1993 | doi = 10.1016/S0021-9258(19)74563-3 | pmid = 8227063 | doi-access = free }}
  • {{cite journal | vauthors = Europe-Finner GN, Phaneuf S, Watson SP, López Bernal A | title = Identification and expression of G-proteins in human myometrium: up-regulation of G alpha s in pregnancy. | journal = Endocrinology | volume = 132 | issue = 6 | pages = 2484–90 | year = 1993 | pmid = 8504751 | doi = 10.1210/endo.132.6.8504751 }}
  • {{cite journal | vauthors = Laugwitz KL, Allgeier A, Offermanns S, Spicher K, Van Sande J, Dumont JE, Schultz G | title = The human thyrotropin receptor: a heptahelical receptor capable of stimulating members of all four G protein families. | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 93 | issue = 1 | pages = 116–20 | year = 1996 | pmid = 8552586 | pmc = 40189 | doi = 10.1073/pnas.93.1.116 | bibcode = 1996PNAS...93..116L | doi-access = free }}
  • {{cite journal | vauthors = Denker SP, McCaffery JM, Palade GE, Insel PA, Farquhar MG | title = Differential distribution of alpha subunits and beta gamma subunits of heterotrimeric G proteins on Golgi membranes of the exocrine pancreas. | journal = J. Cell Biol. | volume = 133 | issue = 5 | pages = 1027–40 | year = 1996 | pmid = 8655576 | pmc = 2120853 | doi = 10.1083/jcb.133.5.1027 }}
  • {{cite journal | vauthors = Chen B, Leverette RD, Schwinn DA, Kwatra MM | title = Human G(alpha q): cDNA and tissue distribution. | journal = Biochim. Biophys. Acta | volume = 1281 | issue = 2 | pages = 125–8 | year = 1996 | pmid = 8664309 | doi = 10.1016/0005-2736(96)00039-9 | doi-access = free }}
  • {{cite journal | vauthors = Johnson GJ, Leis LA, Dunlop PC | title = Specificity of G alpha q and G alpha 11 gene expression in platelets and erythrocytes. Expressions of cellular differentiation and species differences. | journal = Biochem. J. | volume = ( Pt 3) | issue = 3| pages = 1023–31 | year = 1996 | pmid = 8836152 | pmc = 1217719 | doi = 10.1042/bj3181023| series = 318 }}
  • {{cite journal | vauthors = Gomeza J, Mary S, Brabet I, Parmentier ML, Restituito S, Bockaert J, Pin JP | title = Coupling of metabotropic glutamate receptors 2 and 4 to G alpha 15, G alpha 16, and chimeric G alpha q/i proteins: characterization of new antagonists. | journal = Mol. Pharmacol. | volume = 50 | issue = 4 | pages = 923–30 | year = 1996 | pmid = 8863838 }}
  • {{cite journal | vauthors = Petit A, Geoffroy P, Bélisle S | title = Expression of angiotensin II type-I receptor and phospholipase C-linked G alpha q/11 protein in the human placenta. | journal = J. Soc. Gynecol. Investig. | volume = 3 | issue = 6 | pages = 316–21 | year = 1997 | pmid = 8923415 | doi = 10.1016/S1071-5576(96)00035-4 | s2cid = 210868588 }}
  • {{cite journal | vauthors = Petit A, Geoffroy P, Bélisle S | title = Expression of G proteins in human placentas from pregnancies complicated by gestational hypertension. | journal = Life Sci. | volume = 60 | issue = 12 | pages = 953–60 | year = 1997 | pmid = 9061052 | doi = 10.1016/S0024-3205(96)00654-6 }}
  • {{cite journal | vauthors = Kinsella BT, O'Mahony DJ, Fitzgerald GA | title = The human thromboxane A2 receptor alpha isoform (TP alpha) functionally couples to the G proteins Gq and G11 in vivo and is activated by the isoprostane 8-epi prostaglandin F2 alpha. | journal = J. Pharmacol. Exp. Ther. | volume = 281 | issue = 2 | pages = 957–64 | year = 1997 | pmid = 9152406 }}
  • {{cite journal | vauthors = Wise A, Parenti M, Milligan G | title = Interaction of the G-protein G11alpha with receptors and phosphoinositidase C: the contribution of G-protein palmitoylation and membrane association. | journal = FEBS Lett. | volume = 407 | issue = 3 | pages = 257–60 | year = 1997 | pmid = 9175863 | doi = 10.1016/S0014-5793(97)00300-1 | s2cid = 85622146 }}
  • {{cite journal | vauthors = Gabbeta J, Yang X, Kowalska MA, Sun L, Dhanasekaran N, Rao AK | title = Platelet signal transduction defect with Galpha subunit dysfunction and diminished Galphaq in a patient with abnormal platelet responses. | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 94 | issue = 16 | pages = 8750–5 | year = 1997 | pmid = 9238049 | pmc = 23110 | doi = 10.1073/pnas.94.16.8750 | bibcode = 1997PNAS...94.8750G | doi-access = free }}

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{{PDB Gallery|geneid=2776}}

{{Intracellular signaling peptides and proteins}}

{{GTPases}}