GNAT2
Appearance
Guanine nucleotide-binding protein G(t) subunit Alpha -2is aproteinthat in humans is encoded by theGNAT2gene.[5][6]
Function
[edit]Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling ofrhodopsinand cGMP-phosphodiesteraseduring visual impulses. The transducin Alpha subunits inrodsandconesare encoded by separate genes. This gene encodes the Alpha subunit in cones.[6]
References
[edit]- ^abcGRCh38: Ensembl release 89: ENSG00000134183–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000009108–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.
- ^Morris TA, Fong SL (Oct 1993). "Characterization of the gene encoding human cone transducin Alpha -subunit (GNAT2)".Genomics.17(2): 442–8.doi:10.1006/geno.1993.1345.PMID8406495.
- ^ab"Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), Alpha transducing activity polypeptide 2".
Further reading
[edit]- Wilkie TM, Gilbert DJ, Olsen AS, et al. (1993)."Evolution of the mammalian G protein Alpha subunit multigene family".Nat. Genet.1(2): 85–91.doi:10.1038/ng0592-85.PMID1302014.S2CID31888533.
- Arshavsky VYu, Gray-Keller MP, Bownds MD (1991)."cGMP suppresses GTPase activity of a portion of transducin equimolar to phosphodiesterase in frog rod outer segments. Light-induced cGMP decreases as a putative feedback mechanism of the photoresponse".J. Biol. Chem.266(28): 18530–7.doi:10.1016/S0021-9258(18)55094-8.PMID1655754.
- Mazzoni MR, Malinski JA, Hamm HE (1991)."Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitope".J. Biol. Chem.266(21): 14072–81.doi:10.1016/S0021-9258(18)92811-5.PMID1713215.
- Fawzi AB, Fay DS, Murphy EA, et al. (1991)."Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit forms".J. Biol. Chem.266(19): 12194–200.doi:10.1016/S0021-9258(18)98880-0.PMID1905716.
- Kubo M, Hirano T, Kakinuma M (1991). "Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin Alpha subunit".FEBS Lett.291(2): 245–8.doi:10.1016/0014-5793(91)81294-I.PMID1936270.S2CID84445060.
- Lerea CL, Bunt-Milam AH, Hurley JB (1990). "Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina".Neuron.3(3): 367–76.doi:10.1016/0896-6273(89)90261-4.PMID2534964.S2CID2870440.
- Blatt C, Eversole-Cire P, Cohn VH, et al. (1988)."Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human".Proc. Natl. Acad. Sci. U.S.A.85(20): 7642–6.Bibcode:1988PNAS...85.7642B.doi:10.1073/pnas.85.20.7642.PMC282248.PMID2902634.
- Buss JE, Mumby SM, Casey PJ, et al. (1987)."Myristoylated Alpha subunits of guanine nucleotide-binding regulatory proteins".Proc. Natl. Acad. Sci. U.S.A.84(21): 7493–7.Bibcode:1987PNAS...84.7493B.doi:10.1073/pnas.84.21.7493.PMC299322.PMID3118369.
- Hirano T (1994). "[Analysis of cell specific transcription of the human cone transducin Alpha subunit gene]".Hokkaido Igaku Zasshi.68(6): 885–93.PMID8112713.
- Morris TA, Fong WB, Ward MJ, et al. (1997). "Localization of upstream silencer elements involved in the expression of cone transducin Alpha -subunit (GNAT2)".Invest. Ophthalmol. Vis. Sci.38(1): 196–206.PMID9008644.
- Kohl S, Baumann B, Rosenberg T, et al. (2002)."Mutations in the cone photoreceptor G-protein Alpha -subunit gene GNAT2 in patients with achromatopsia".Am. J. Hum. Genet.71(2): 422–5.doi:10.1086/341835.PMC379175.PMID12077706.
- Aligianis IA, Forshew T, Johnson S, et al. (2002)."Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the Alpha subunit of cone transducin (GNAT2)".J. Med. Genet.39(9): 656–60.doi:10.1136/jmg.39.9.656.PMC1735242.PMID12205108.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99(26): 16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
- Piña AL, Baumert U, Loyer M, Koenekoop RK (2004). "A three base pair deletion encoding the amino acid (lysine-270) in the Alpha -cone transducin gene".Mol. Vis.10:265–71.PMID15094710.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004)."The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)".Genome Res.14(10B): 2121–7.doi:10.1101/gr.2596504.PMC528928.PMID15489334.
- Rosenberg T, Baumann B, Kohl S, et al. (2005)."Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations".Invest. Ophthalmol. Vis. Sci.45(12): 4256–62.doi:10.1167/iovs.04-0317.PMID15557429.
External links
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