GNAQ
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| Location (UCSC) | Chr 9: 77.72 – 78.03 Mb | Chr 19: 16.11 – 16.36 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
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Guanine nucleotide-binding protein G(q) subunit alpha is a
paralogue), it functions as a Gq alpha subunit.[6]
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][7]
Mutations in this gene have been found associated to cases of Sturge–Weber syndrome and port-wine stains.[8]
Interactions
GNAQ has been shown to
interact
with:
- Beta adrenergic receptor kinase,[9]
- Bruton's tyrosine kinase,[10]
- RGS16
- RGS4[11]
- RIC8A,[12][13] and
- Sodium-hydrogen antiporter 3 regulator 1.[14]
See also
- List of genes mutated in pigmented cutaneous lesions
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000156052 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024639 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 8825633.
- OMIM. Retrieved January 1, 2015.
- ^ "Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide".
- PMID 23656586.
- PMID 12885252.
- PMID 9770463.
- PMID 9660808.
- S2CID 84975473.
- PMID 12509430.
- 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. 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. 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. S2CID 927009.
- 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) (Pt 1): 151–8. 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. 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. S2CID 8911988.
- 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. 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. 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. 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. 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) (3): 1023–31. 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. S2CID 210868588.
- 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. 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. S2CID 85622146.
- 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. PMID 9238049.
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