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GNAO1
Introduction
Guanine nucleotide-binding protein G(o) subunit alpha is a protein that in humans is encoded by the GNAO1 gene.[1][2][3]
Mutations in this gene have been shown to cause epileptic encephalopathy.[4]
References
References
- β Murtagh JJ Jr; Eddy R; Shows TB; Moss J; Vaughan M (Mar 1991). “Different forms of Go alpha mRNA arise by alternative splicing of transcripts from a single gene on human chromosome 16”. Mol Cell Biol. 11 (2): 1146β55. PMCΒ 359797. PMIDΒ 1899283.
- β Kinoshita M, Nukada T, Asano T, Mori Y, Akaike A, Satoh M, Kaneko S (Jul 2001). “Binding of G alpha(o) N terminus is responsible for the voltage-resistant inhibition of alpha(1A) (P/Q-type, Ca(v)2.1) Ca(2+) channels”. J Biol Chem. 276 (31): 28731β8. doi:10.1074/jbc.M104806200. PMIDΒ 11395521.
- β “Entrez Gene: GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O”.
- β Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H (September 2013). “De Novo mutations in GNAO1, encoding a GΞ±o subunit of heterotrimeric G proteins, cause epileptic encephalopathy”. Am. J. Hum. Genet. 93 (3): 496β505. doi:10.1016/j.ajhg.2013.07.014. PMCΒ 3769919. PMIDΒ 23993195.
- β Chen C, Zheng B, Han J, Lin SC (1997). “Characterization of a novel mammalian RGS protein that binds to Galpha proteins and inhibits pheromone signaling in yeast”. J. Biol. Chem. 272 (13): 8679β85. doi:10.1074/jbc.272.13.8679. PMIDΒ 9079700.
- β Zhou J, Moroi K, Nishiyama M, Usui H, Seki N, Ishida J, Fukamizu A, Kimura S (2001). “Characterization of RGS5 in regulation of G protein-coupled receptor signaling”. Life Sci. 68 (13): 1457β69. doi:10.1016/S0024-3205(01)00939-0. PMIDΒ 11253162.
- β De Vries L, Elenko E, Hubler L, Jones TL, Farquhar MG (1996). “GAIP is membrane-anchored by palmitoylation and interacts with the activated (GTP-bound) form of G alpha i subunits”. Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15203β8. doi:10.1073/pnas.93.26.15203. PMCΒ 26381. PMIDΒ 8986788.
- β Woulfe DS, Stadel JM (1999). “Structural basis for the selectivity of the RGS protein, GAIP, for Galphai family members. Identification of a single amino acid determinant for selective interaction of Galphai subunits with GAIP”. J. Biol. Chem. 274 (25): 17718β24. doi:10.1074/jbc.274.25.17718. PMIDΒ 10364213.
- β Pagano M, Jordan JD, Neves SR, Nguyen T, Iyengar R (2008). “Galphao/i-stimulated proteosomal degradation of RGS20: a mechanism for temporal integration of Gs and Gi pathways”. Cell. Signal. 20 (6): 1190β7. doi:10.1016/j.cellsig.2008.02.008. PMCΒ 3107604. PMIDΒ 18407463.
- β Tall GG, Krumins AM, Gilman AG (2003). “Mammalian Ric-8A (synembryn) is a heterotrimeric Galpha protein guanine nucleotide exchange factor”. J. Biol. Chem. 278 (10): 8356β62. doi:10.1074/jbc.M211862200. PMIDΒ 12509430.
Further reading
Further reading
- Raymond JR, Mukhin YV, Gelasco A, et al. (2002). “Multiplicity of mechanisms of serotonin receptor signal transduction”. Pharmacol. Ther. 92 (2β3): 179β212. doi:10.1016/S0163-7258(01)00169-3. PMIDΒ 11916537.
- Coupry I, Duzic E, Lanier SM (1992). “Factors determining the specificity of signal transduction by guanine nucleotide-binding protein-coupled receptors. II. Preferential coupling of the alpha 2C-adrenergic receptor to the guanine nucleotide-binding protein, Go”. J. Biol. Chem. 267 (14): 9852β7. PMIDΒ 1349607.
- Denker BM, Neer EJ, Schmidt CJ (1992). “Mutagenesis of the amino terminus of the alpha subunit of the G protein Go. In vitro characterization of alpha o beta gamma interactions”. J. Biol. Chem. 267 (9): 6272β7. PMIDΒ 1556134.
- Yi F, Denker BM, Neer EJ (1991). “Structural and functional studies of cross-linked Go protein subunits”. J. Biol. Chem. 266 (6): 3900β6. PMIDΒ 1899868.
- Tsukamoto T, Toyama R, Itoh H, et al. (1991). “Structure of the human gene and two rat cDNAs encoding the alpha chain of GTP-binding regulatory protein Go: two different mRNAs are generated by alternative splicing”. Proc. Natl. Acad. Sci. U.S.A. 88 (8): 2974β8. doi:10.1073/pnas.88.8.2974. PMCΒ 51366. PMIDΒ 1901650.
- Gabrion J, Brabet P, Nguyen Than Dao B, et al. (1990). “Ultrastructural localization of the GTP-binding protein Go in neurons”. Cell. Signal. 1 (1): 107β23. doi:10.1016/0898-6568(89)90025-9. PMIDΒ 2518353.
- Lavu S, Clark J, Swarup R, et al. (1988). “Molecular cloning and DNA sequence analysis of the human guanine nucleotide-binding protein Go alpha”. Biochem. Biophys. Res. Commun. 150 (2): 811β5. doi:10.1016/0006-291X(88)90463-9. PMIDΒ 3124840.
- Zumbihl R, Breuiller-FouchΓ© M, Carrette J, et al. (1995). “Up-regulation in late pregnancy of both Go1 alpha and Go2 alpha isoforms in human myometrium”. Eur. J. Pharmacol. 288 (1): 9β15. doi:10.1016/0922-4106(94)90004-3. PMIDΒ 7705473.
- Grassie MA, Milligan G (1995). “Analysis of the relative interactions between the alpha 2C10 adrenoceptor and the guanine-nucleotide-binding proteins G(o)1 alpha and Gi 2 alpha following co-expression of these polypeptides in rat 1 fibroblasts”. Biochem. J. 306 (2): 525β30. doi:10.1042/bj3060525. PMCΒ 1136549. PMIDΒ 7887906.
- Wu HC, Lin CT (1994). “Association of heterotrimeric GTP binding regulatory protein (Go) with mitosis”. Lab. Invest. 71 (2): 175β81. PMIDΒ 8078296.
- Nitta K, Uchida K, Kawashima A, et al. (1994). “Identification of GTP-binding proteins in human glomeruli”. Nippon Jinzo Gakkai shi. 36 (1): 9β12. PMIDΒ 8107314.
- Georgoussi Z, Carr C, Milligan G (1993). “Direct measurements of in situ interactions of rat brain opioid receptors with the guanine nucleotide-binding protein Go”. Mol. Pharmacol. 44 (1): 62β9. PMIDΒ 8393523.
- 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): 116β20. doi:10.1073/pnas.93.1.116. PMCΒ 40189. PMIDΒ 8552586.
- Kawano N, Ito T, Kitamura H, et al. (1997). “Immunoexpression of the alpha subunit of a guanine nucleotide-binding protein (Go) in pulmonary neuroendocrine cells and neoplasms”. Pathol. Int. 46 (6): 393β8. doi:10.1111/j.1440-1827.1996.tb03629.x. PMIDΒ 8869990.
- De Vries L, Elenko E, Hubler L, et al. (1997). “GAIP is membrane-anchored by palmitoylation and interacts with the activated (GTP-bound) form of G alpha i subunits”. Proc. Natl. Acad. Sci. U.S.A. 93 (26): 15203β8. doi:10.1073/pnas.93.26.15203. PMCΒ 26381. PMIDΒ 8986788.
- Valenzuela D, Han X, Mende U, et al. (1997). “G alpha(o) is necessary for muscarinic regulation of Ca2+ channels in mouse heart”. Proc. Natl. Acad. Sci. U.S.A. 94 (5): 1727β32. doi:10.1073/pnas.94.5.1727. PMCΒ 19984. PMIDΒ 9050846.
- Chen C, Zheng B, Han J, Lin SC (1997). “Characterization of a novel mammalian RGS protein that binds to Galpha proteins and inhibits pheromone signaling in yeast”. J. Biol. Chem. 272 (13): 8679β85. doi:10.1074/jbc.272.13.8679. PMIDΒ 9079700.
- Natochin M, Lipkin VM, Artemyev NO (1997). “Interaction of human retinal RGS with G-protein alpha-subunits”. FEBS Lett. 411 (2β3): 179β82. doi:10.1016/S0014-5793(97)00687-X. PMIDΒ 9271201.
- Busconi L, Denker BM (1998). “Analysis of the N-terminal binding domain of Go alpha”. Biochem. J. 328 (1): 23β31. PMCΒ 1218882. PMIDΒ 9359829.