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Showing content from https://en.wikipedia.org/wiki/GNAQ below:

GNAQ - Wikipedia

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

2BCJ, 2RGN, 3AH8, 3OHM, 4EKC, 4EKD, 4GNK, 4QJ3, 4QJ4, 4QJ5

• Region I of hippocampus proper


• dorsal motor nucleus of vagus nerve


• postcentral gyrus


• inferior olivary nucleus


• Brodmann area 46


• pars reticulata


• entorhinal cortex


• orbitofrontal cortex


• pars compacta


• subthalamic nucleus

• ventromedial nucleus


• arcuate nucleus


• anterior amygdaloid area


• mammillary body


• Rostral migratory stream


• lateral septal nucleus


• paraventricular nucleus of hypothalamus


• substantia nigra


• ventral tegmental area


• lateral hypothalamus

• nucleotide binding
• type 2A serotonin receptor binding
• GTPase activator activity
• GTP binding
• metal ion binding
• protein binding
• GTPase activity
• guanyl nucleotide binding
• G protein-coupled receptor binding
• signal transducer activity
• G-protein beta/gamma-subunit complex binding

• cytoplasm
• cell body
• nuclear membrane
• membrane
• plasma membrane
• photoreceptor outer segment
• lysosomal membrane
• dendrite
• extracellular exosome
• nucleus
• heterotrimeric G-protein complex
• intracellular anatomical structure

• G protein-coupled acetylcholine receptor signaling pathway
• skeletal system development
• 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
• G protein-coupled receptor signaling pathway
• adenylate cyclase-modulating G protein-coupled receptor signaling pathway
• regulation of canonical Wnt signaling pathway

2776

14682

ENSG00000156052

ENSMUSG00000024639

P50148

P21279

NM_002072

NM_008139

NP_002063
NP_002063.2

NP_032165

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.^[5] Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.^[6]

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]

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]

• List of genes mutated in pigmented cutaneous lesions

1. ^ ^{a b c} GRCh38: Ensembl release 89: ENSG00000156052 – Ensembl, May 2017
2. ^ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000024639 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ 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.
6. ^ 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11 at OMIM. Retrieved January 1, 2015.
7. ^ "Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide".
8. ^ 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.
9. ^ 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.
10. ^ 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. Bibcode:1998PNAS...9512197M. doi:10.1073/pnas.95.21.12197. PMC 22808. PMID 9770463.
11. ^ 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.
12. ^ 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. hdl:10533/174200. PMID 12652642. S2CID 84975473.
13. ^ 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.
14. ^ 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.

• 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. 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. doi:10.1042/bj3120151. 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. 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. doi:10.1016/S0021-9258(17)36705-4. 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. doi:10.1016/S0021-9258(19)74563-3. 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/endo.132.6.8504751. 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. Bibcode:1996PNAS...93..116L. 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) (3): 1023–31. doi:10.1042/bj3181023. 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. 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. 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. 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. Bibcode:1997PNAS...94.8750G. doi:10.1073/pnas.94.16.8750. PMC 23110. PMID 9238049.

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PDB gallery

• 2bcj: Crystal Structure of G Protein-Coupled Receptor Kinase 2 in Complex with Galpha-q and Gbetagamma Subunits

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