GNAQ

From Wikipedia, the free encyclopedia

Guanine nucleotide binding protein (G protein), q polypeptide

PDB rendering based on 2bcj.

Available structures

Ortholog search: PDBe, RCSB

List of PDB id codes
2bcj

Identifiers

Symbols

GNAQ; G-ALPHA-q; GAQ

External IDs

OMIM: 600998 MGI: 95776 HomoloGene: 1566 GeneCards: GNAQ Gene

Gene Ontology
Molecular function	• G-protein coupled receptor binding • GTPase activity • signal transducer activity • GTPase activator activity • protein binding • GTP binding • G-protein beta/gamma-subunit complex binding • metal ion binding
Cellular component	• cytoplasm • heterotrimeric G-protein complex • plasma membrane • extrinsic to internal side of plasma membrane • nuclear membrane
Biological process	• skeletal system development • regulation of action potential • negative regulation of protein kinase activity • adenylate cyclase-activating G-protein coupled receptor signaling pathway • activation of phospholipase C activity • glutamate receptor signaling pathway • heart development • blood coagulation • behavior • post-embryonic development • neuron remodeling • forebrain neuron development • platelet activation • regulation of catenin import into nucleus • embryonic digit morphogenesis • positive regulation of GTPase activity • regulation of melanocyte differentiation • developmental pigmentation • protein stabilization • phospholipase C-activating dopamine receptor signaling pathway
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 9:
80.33 – 80.65 Mb

Chr 19:
16.13 – 16.39 Mb

PubMed search

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.^[1]

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]^[2]

Mutations in this gene have been found associated to cases of Sturge-Weber syndrome and port-wine stains.^[3]

Interactions

GNAQ has been shown to interact with Sodium-hydrogen antiporter 3 regulator 1,^[4] RIC8A,^[5]^[6] RGS16,^[7] Beta adrenergic receptor kinase,^[8] RGS4^[7]^[9] and Bruton's tyrosine kinase.^[10]

References

↑ 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.
↑ "Entrez Gene: GNAQ guanine nucleotide binding protein (G protein), q polypeptide".
↑ 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. Cite uses deprecated parameters (help)
↑ Rochdi, Moulay Driss; Watier Valérie, La Madeleine Carole, Nakata Hiroko, Kozasa Tohru, Parent Jean-Luc (October 2002). "Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50)". J. Biol. Chem. (United States) 277 (43): 40751–9. doi:10.1074/jbc.M207910200. ISSN 0021-9258. PMID 12193606. Cite uses deprecated parameters (help)
↑ Klattenhoff, Carla; Montecino Martín, Soto Ximena, Guzmán Leonardo, Romo Ximena, García María Angeles, Mellstrom Britt, Naranjo José Ramón, Hinrichs María Victoria, Olate Juan (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. (United States) 195 (2): 151–7. doi:10.1002/jcp.10300. ISSN 0021-9541. PMID 12652642. Cite uses deprecated parameters (help)
↑ Tall, Gregory G; Krumins Andrejs M, Gilman Alfred G (March 2003). "Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor". J. Biol. Chem. (United States) 278 (10): 8356–62. doi:10.1074/jbc.M211862200. ISSN 0021-9258. PMID 12509430. Cite uses deprecated parameters (help)
↑ 7.0 7.1
↑ Day, Peter W; Carman Christopher V, Sterne-Marr Rachel, Benovic Jeffrey L, Wedegaertner Philip B (August 2003). "Differential interaction of GRK2 with members of the G alpha q family". Biochemistry (United States) 42 (30): 9176–84. doi:10.1021/bi034442. ISSN 0006-2960. PMID 12885252. Cite uses deprecated parameters (help)
↑ Druey, K M; Sullivan B M, Brown D, Fischer E R, Watson N, Blumer K J, Gerfen C R, Scheschonka A, Kehrl J H (July 1998). "Expression of GTPase-deficient Gialpha2 results in translocation of cytoplasmic RGS4 to the plasma membrane". J. Biol. Chem. (UNITED STATES) 273 (29): 18405–10. doi:10.1074/jbc.273.29.18405. ISSN 0021-9258. PMID 9660808. Cite uses deprecated parameters (help)
↑ Ma, Y C; Huang X Y (October 1998). "Identification of the binding site for Gqalpha on its effector Bruton's tyrosine kinase". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 95 (21): 12197–201. doi:10.1073/pnas.95.21.12197. ISSN 0027-8424. PMC 22808. PMID 9770463. Cite uses deprecated parameters (help)

Raymond JR, Mukhin YV, Gelasco A, et al. (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, et al. (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, et al. (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, et al. (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, et al. (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, et al. (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, et al. (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, et al. (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.

PDB gallery

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

Hydrolases: acid anhydride hydrolases (EC 3.6)

3.6.1

3.6.2

3.6.3-4: ATPase

3.6.3

Cu++ (3.6.3.4)	Menkes/ATP7A Wilson/ATP7B

Ca+ (3.6.3.8)	SERCA ATP2A1 ATP2A2 ATP2A3 Plasma membrane ATP2B1 ATP2B2 ATP2B3 ATP2B4 SPCA ATP2C1 ATP2C2

Na+/K+ (3.6.3.9)	ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP1B4

H+/K+ (3.6.3.10)	ATP4A

Other P-type ATPase	ATP8B1 ATP10A ATP11B ATP12A ATP13A2 ATP13A3

3.6.4

3.6.5: GTPase

3.6.5.1: Heterotrimeric G protein	G_αs G_αi GNAI1 GNAI2 GNAI3 G_αq/11 GNAQ GNA11 G_α12/13 GNA12 GNA13 Transducin GNAT1 GNAT2

3.6.5.2: Small GTPase > Ras superfamily	Rho family of GTPases: Cdc42 CDC42 TC10 TCL RhoUV RhoU RhoV Rac Rac1 2 3 RhoG RhoBTB 1 2 RhoH Rho A B C Rnd 1 2 3 RhoDF RhoF RhoD other: Ras HRAS KRAS NRAS Rab RAB23 RAB27 Arf ARF6 SAR1B ARL13B ARL6 Ran Rheb Rap RGK

3.6.5.3: Protein-synthesizing GTPase	Prokaryotic IF-2 EF-Tu EF-G Eukaryotic

3.6.5.5-6: Polymerization motors	Dynamin Tubulin

B
enzm
1.1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 10
- 11
- 13
- 14
- 15-18
2.1
- 2
- 3
- 4
- 5
- 6
- 7
  - 2.7.10
  - 11-12
- 8
3.1
- - 3.1.3.48
- 2
- 3
- 4
  - 3.4.21
  - 22
  - 23
  - 24
- 5
- 6
- 7
4.1
- 2
- 3
- 4
- 5
- 6
5.1
- 2
- 3
- 4
- 99
6.1-3
- 4
- 5-6

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GNAQ

Interactions

See also

References

Further reading