Guanine nucleotide-binding protein G(t) subunit alpha-2 is a protein that in humans is encoded by the GNAT2 gene.[1][2]
Function
Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phosphodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones.[2]
References
- ^ 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. PMID 8406495
- ^ "Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2"
Further reading
- Wilkie TM, Gilbert DJ, Olsen AS (1993). "Evolution of the mammalian G protein alpha subunit multigene family". Nat. Genet.. 1 (2): 85–91. doi:10.1038/ng0592-85. PMID 1302014. S2CID 31888533
- 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. PMID 1655754
- 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. PMID 1713215
- Fawzi AB, Fay DS, Murphy EA (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. PMID 1905716
- 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. PMID 1936270. S2CID 84445060
- 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. PMID 2534964. S2CID 2870440
- Blatt C, Eversole-Cire P, Cohn VH (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. PMC 282248. PMID 2902634
- Buss JE, Mumby SM, Casey PJ (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. PMC 299322. PMID 3118369
- Hirano T (1994). "[Analysis of cell specific transcription of the human cone transducin alpha subunit gene]". Hokkaido Igaku Zasshi. 68 (6): 885–93. PMID 8112713
- Morris TA, Fong WB, Ward MJ (1997). "Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2)". Invest. Ophthalmol. Vis. Sci.. 38 (1): 196–206. PMID 9008644
- Kohl S, Baumann B, Rosenberg T (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. PMC 379175. PMID 12077706
- Aligianis IA, Forshew T, Johnson S (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. PMC 1735242. PMID 12205108
- Strausberg RL, Feingold EA, Grouse LH (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. PMC 139241. PMID 12477932
- 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. PMID 15094710
- Gerhard DS, Wagner L, Feingold EA (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. PMC 528928. PMID 15489334
- Rosenberg T, Baumann B, Kohl S (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. PMID 15557429