GNAQ

GNAQ
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BCJ, 2RGN, 3AH8, 3OHM, 4EKC, 4EKD, 4GNK, 4QJ3, 4QJ4, 4QJ5
Identifiers
Aliases	GNAQ, CMC1, G-ALPHA-q, GAQ, SWS, G protein subunit alpha q
External IDs	MGI: 95776 HomoloGene: 1566 GeneCards: GNAQ
Gene ontology Molecular function • nucleotide binding • G-protein beta/gamma-subunit complex binding • type 2A serotonin receptor binding • GTPase activator activity • GTP binding • signal transducer activity • metal ion binding • protein binding • GTPase activity • guanyl nucleotide binding • G-protein coupled receptor binding Cellular component • cytoplasm • cell body • nuclear membrane • membrane • plasma membrane • photoreceptor outer segment • lysosomal membrane • dendrite • extracellular exosome • nucleus Biological process • regulation of catenin import into nucleus • G-protein coupled acetylcholine receptor signaling pathway • skeletal system development • G-protein coupled receptor signaling pathway • negative regulation of protein kinase activity • neuron remodeling • embryonic digit morphogenesis • protein stabilization • blood coagulation • post-embryonic development • regulation of melanocyte differentiation • activation of phospholipase C activity • entrainment of circadian clock • platelet activation • forebrain neuron development • heart development • maternal behavior • phototransduction, visible light • developmental pigmentation • signal transduction • positive regulation of GTPase activity • glutamate receptor signaling pathway • action potential • adenylate cyclase-activating G-protein coupled receptor signaling pathway • phospholipase C-activating dopamine receptor signaling pathway Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2776	14682
Ensembl	ENSG00000156052	ENSMUSG00000024639
UniProt	P50148	P21279
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

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Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.^[3] Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.^[4]

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]^[5]

Mutations in this gene have been found associated to cases of Sturge-Weber syndrome and port-wine stains.^[6]

Interactions

GNAQ has been shown to interact with:

• Beta adrenergic receptor kinase,^[7]
• Bruton's tyrosine kinase,^[8]
• RGS16,^[9]
• RGS4^[9][10]
• RIC8A,^[11][12] and
• Sodium-hydrogen antiporter 3 regulator 1.^[13]

See also

• List of genes mutated in pigmented cutaneous lesions

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11 at OMIM. Retrieved January 1, 2015.
5. "Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide".
6. 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.
7. 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.
8. 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.
10. 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.
11. 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.
12. 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.
13. 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

• Raymond JR, Mukhin YV, Gelasco A, Turner J, Collinsworth G, Gettys TW, Grewal JS, Garnovskaya MN (2002). "Multiplicity of mechanisms of serotonin receptor signal transduction.". Pharmacol. Ther. 92 (2-3): 179–212. doi:10.1016/S0163-7258(01)00169-3. PMID 11916537.
• Van Oekelen D, Luyten WH, Leysen JE (2003). "5-HT2A and 5-HT2C receptors and their atypical regulation properties.". Life Sci. 72 (22): 2429–49. doi:10.1016/S0024-3205(03)00141-3. PMID 12650852.
• Lesch KP, Manji HK (1992). "Signal-transducing G proteins and antidepressant drugs: evidence for modulation of alpha subunit gene expression in rat brain.". Biol. Psychiatry. 32 (7): 549–79. doi:10.1016/0006-3223(92)90070-G. PMID 1333286.
• Thomas CP, Dunn MJ, Mattera R (1996). "Ca2+ signalling in K562 human erythroleukaemia cells: effect of dimethyl sulphoxide and role of G-proteins in thrombin- and thromboxane A2-activated pathways.". Biochem. J. 312. ( Pt 1): 151–8. PMC 1136238. PMID 7492305.
• Blin N, Yun J, Wess J (1995). "Mapping of single amino acid residues required for selective activation of Gq/11 by the m3 muscarinic acetylcholine receptor.". J. Biol. Chem. 270 (30): 17741–8. doi:10.1074/jbc.270.30.17741. PMID 7629074.
• Kabouridis PS, Waters ST, Escobar S, Stanners J, Tsoukas CD (1995). "Expression of GTP-binding protein alpha subunits in human thymocytes.". Mol. Cell. Biochem. 144 (1): 45–51. doi:10.1007/BF00926739. PMID 7791744.
• Allgeier A, Offermanns S, Van Sande J, Spicher K, Schultz G, Dumont JE (1994). "The human thyrotropin receptor activates G-proteins Gs and Gq/11.". J. Biol. Chem. 269 (19): 13733–5. PMID 8188646.
• Wedegaertner PB, Chu DH, Wilson PT, Levis MJ, Bourne HR (1993). "Palmitoylation is required for signaling functions and membrane attachment of Gq alpha and Gs alpha.". J. Biol. Chem. 268 (33): 25001–8. PMID 8227063.
• Europe-Finner GN, Phaneuf S, Watson SP, López Bernal A (1993). "Identification and expression of G-proteins in human myometrium: up-regulation of G alpha s in pregnancy.". Endocrinology. 132 (6): 2484–90. doi:10.1210/en.132.6.2484. PMID 8504751.
• Laugwitz KL, Allgeier A, Offermanns S, Spicher K, Van Sande J, Dumont JE, Schultz G (1996). "The human thyrotropin receptor: a heptahelical receptor capable of stimulating members of all four G protein families.". Proc. Natl. Acad. Sci. U.S.A. 93 (1): 116–20. doi:10.1073/pnas.93.1.116. PMC 40189. PMID 8552586.
• Denker SP, McCaffery JM, Palade GE, Insel PA, Farquhar MG (1996). "Differential distribution of alpha subunits and beta gamma subunits of heterotrimeric G proteins on Golgi membranes of the exocrine pancreas.". J. Cell Biol. 133 (5): 1027–40. doi:10.1083/jcb.133.5.1027. PMC 2120853. PMID 8655576.
• Chen B, Leverette RD, Schwinn DA, Kwatra MM (1996). "Human G(alpha q): cDNA and tissue distribution.". Biochim. Biophys. Acta. 1281 (2): 125–8. doi:10.1016/0005-2736(96)00039-9. PMID 8664309.
• Johnson GJ, Leis LA, Dunlop PC (1996). "Specificity of G alpha q and G alpha 11 gene expression in platelets and erythrocytes. Expressions of cellular differentiation and species differences.". Biochem. J. 318. ( Pt 3): 1023–31. PMC 1217719. PMID 8836152.
• Gomeza J, Mary S, Brabet I, Parmentier ML, Restituito S, Bockaert J, Pin JP (1996). "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.". Mol. Pharmacol. 50 (4): 923–30. PMID 8863838.
• Petit A, Geoffroy P, Bélisle S (1997). "Expression of angiotensin II type-I receptor and phospholipase C-linked G alpha q/11 protein in the human placenta.". J. Soc. Gynecol. Investig. 3 (6): 316–21. doi:10.1016/S1071-5576(96)00035-4. PMID 8923415.
• Petit A, Geoffroy P, Bélisle S (1997). "Expression of G proteins in human placentas from pregnancies complicated by gestational hypertension.". Life Sci. 60 (12): 953–60. doi:10.1016/S0024-3205(96)00654-6. PMID 9061052.
• Kinsella BT, O'Mahony DJ, Fitzgerald GA (1997). "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.". J. Pharmacol. Exp. Ther. 281 (2): 957–64. PMID 9152406.
• Wise A, Parenti M, Milligan G (1997). "Interaction of the G-protein G11alpha with receptors and phosphoinositidase C: the contribution of G-protein palmitoylation and membrane association.". FEBS Lett. 407 (3): 257–60. doi:10.1016/S0014-5793(97)00300-1. PMID 9175863.
• Gabbeta J, Yang X, Kowalska MA, Sun L, Dhanasekaran N, Rao AK (1997). "Platelet signal transduction defect with Galpha subunit dysfunction and diminished Galphaq in a patient with abnormal platelet responses.". Proc. Natl. Acad. Sci. U.S.A. 94 (16): 8750–5. doi:10.1073/pnas.94.16.8750. PMC 23110. PMID 9238049.