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{{Infobox_gene}}
{{PBB_Controls
'''Guanine nucleotide-binding protein G(q) subunit alpha''' is a [[protein]] that in humans is encoded by the ''GNAQ'' [[gene]].<ref name="pmid8825633">{{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 | pmc = | doi = 10.1006/geno.1995.1267 }}</ref> Together with [[GNA11]] (its [[paralogue]]), it functions as a [[Gq alpha subunit]].<ref>[http://www.omim.org/entry/139313 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11] at [[OMIM]]. Retrieved January 1, 2015.</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
{{Further|Gq alpha subunit}}
| image = PBB_Protein_GNAQ_image.jpg
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]<ref>{{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| accessdate = }}</ref>
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2bcj.
| PDB = {{PDB2|2bcj}}
| Name = Guanine nucleotide binding protein (G protein), q polypeptide
| HGNCid = 4390
| Symbol = GNAQ
| AltSymbols =; G-ALPHA-q; GAQ
| OMIM = 600998
| ECnumber = 
| Homologene = 1566
| MGIid = 95776
| GeneAtlas_image1 = PBB_GE_GNAQ_202615_at_tn.png
| GeneAtlas_image2 = PBB_GE_GNAQ_211426_x_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003924 |text = GTPase activity}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005525 |text = GTP binding}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005834 |text = heterotrimeric G-protein complex}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}}
| Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0001508 |text = regulation of action potential}} {{GNF_GO|id=GO:0006471 |text = protein amino acid ADP-ribosylation}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007186 |text = G-protein coupled receptor protein signaling pathway}} {{GNF_GO|id=GO:0007189 |text = G-protein signaling, adenylate cyclase activating pathway}} {{GNF_GO|id=GO:0007202 |text = phospholipase C activation}} {{GNF_GO|id=GO:0007215 |text = glutamate signaling pathway}} {{GNF_GO|id=GO:0007507 |text = heart development}} {{GNF_GO|id=GO:0007596 |text = blood coagulation}} {{GNF_GO|id=GO:0016322 |text = neuron remodeling}} {{GNF_GO|id=GO:0042733 |text = embryonic digit morphogenesis}} {{GNF_GO|id=GO:0045634 |text = regulation of melanocyte differentiation}} {{GNF_GO|id=GO:0048066 |text = pigmentation during development}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2776
    | Hs_Ensembl = ENSG00000156052
    | Hs_RefseqProtein = NP_002063
    | Hs_RefseqmRNA = NM_002072
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 79520823
    | Hs_GenLoc_end = 79836194
    | Hs_Uniprot = P50148
    | Mm_EntrezGene = 14682
    | Mm_Ensembl = ENSMUSG00000024639
    | Mm_RefseqmRNA = NM_008139
    | Mm_RefseqProtein = NP_032165
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 19
    | Mm_GenLoc_start = 16199850
    | Mm_GenLoc_end = 16454472
    | Mm_Uniprot = Q3UHH5
  }}
}}
'''Guanine nucleotide binding protein (G protein), q polypeptide''', also known as '''GNAQ''', is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
Mutations in this gene have been found associated to cases of [[Sturge-Weber syndrome]] and [[port-wine stain]]s.<ref>{{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}}</ref>
{{PBB_Summary
| section_title =  
| summary_text = 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]<ref>{{cite web | title = Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2776| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
GNAQ has been shown to [[Protein-protein interaction|interact]] with:
* [[Beta adrenergic receptor kinase]],<ref name = pmid12885252>{{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+ }}</ref>
* [[Bruton's tyrosine kinase]],<ref name = pmid9770463>{{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}}</ref>
* [[RGS16]],<ref name = pmid14634662><!-- Generated with pubmed2wiki.xsl Author: Pierre Lindenbaum PhD. plindenbaum@yahoo.fr http://en.wikipedia.org/wiki/User:Plindenbaum --></ref>
* [[RGS4]]<ref name = pmid14634662/><ref name = pmid9660808>{{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}}</ref>
* [[RIC8A]],<ref name = pmid12652642>{{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 }}</ref><ref name = pmid12509430>{{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 }}</ref>  and
* [[Sodium-hydrogen antiporter 3 regulator 1]].<ref name = pmid12193606>{{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 }}</ref>
 
== See also ==
* [[List of genes mutated in pigmented cutaneous lesions]]
 
== References ==
{{reflist}}
{{Clear}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{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 }}
| citations =
* {{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 | author=Raymond JR, Mukhin YV, Gelasco A, ''et al.'' |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= }}
* {{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 }}
*{{cite journal | author=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= }}
* {{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) | issue =  | pages = 151–8 | year = 1996 | pmid = 7492305 | pmc = 1136238 | doi =  | series = 312 }}
*{{cite journal | author=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= }}
* {{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 }}
*{{cite journal | author=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=312 ( Pt 1) |issue=  |pages= 151-8 |year= 1996 |pmid= 7492305 |doi=  }}
* {{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 }}
*{{cite journal | author=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= }}
* {{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 | pmid = 8188646 | doi =  }}
*{{cite journal | author=Kabouridis PS, Waters ST, Escobar S, ''et al.'' |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= }}
* {{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 | pmid = 8227063 | doi =  }}
*{{cite journal | author=Allgeier A, Offermanns S, Van Sande J, ''et al.'' |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 |pmid= 8188646 |doi=  }}
* {{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/en.132.6.2484 }}
*{{cite journal | author=Wedegaertner PB, Chu DH, Wilson PT, ''et al.'' |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 |pmid= 8227063 |doi=  }}
* {{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 }}
*{{cite journal | author=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= }}
* {{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 | author=Laugwitz KL, Allgeier A, Offermanns S, ''et al.'' |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 |doi= }}
* {{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 }}
*{{cite journal | author=Denker SP, McCaffery JM, Palade GE, ''et al.'' |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 |doi= }}
* {{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 = | pages = 1023–31 | year = 1996 | pmid = 8836152 | pmc = 1217719 | doi = | series = 318 }}
*{{cite journal | author=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= }}
* {{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 | doi =  }}
*{{cite journal | author=Dong Q, Shenker A, Way J, ''et al.'' |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 |year= 1997 |pmid= 8825633 |doi= 10.1006/geno.1995.1267 }}
* {{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 }}
*{{cite journal | author=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=318 ( Pt 3) |issue= |pages= 1023-31 |year= 1996 |pmid= 8836152 |doi=  }}
* {{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 | author=Gomeza J, Mary S, Brabet I, ''et al.'' |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 |doi= }}
* {{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 | doi =  }}
*{{cite journal | author=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= }}
* {{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 }}
*{{cite journal | author=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=  }}
* {{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 }}
*{{cite journal | author=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 |doi= }}
*{{cite journal | author=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= }}
*{{cite journal  | author=Gabbeta J, Yang X, Kowalska MA, ''et al.'' |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 |doi=  }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{PDB Gallery|geneid=2776}}
{{Intracellular signaling peptides and proteins}}
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{{GTPases}}
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Latest revision as of 08:50, 31 August 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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, 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. PMC 3749068. 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. 7.0 7.1
  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.
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Further reading