GNAT2
(Preusmjereno sa stranice GNATC)
| edit |
| Guanin nukleotid-vezujući protein (G protein), alfa inhibirajući polipeptid 2 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifikatori | |||||||||||
| Simboli | GNAT2; ACHM4; GNATC | ||||||||||
| Vanjski ID | OMIM: 139340 MGI: 95779 HomoloGene: 21092 GeneCards: GNAT2 Gene | ||||||||||
| |||||||||||
| Pregled RNK izražavanja | |||||||||||
 | |||||||||||
| podaci | |||||||||||
| Ortolozi | |||||||||||
| Vrsta | Čovek | Miš | |||||||||
| Entrez | 2780 | 14686 | |||||||||
| Ensembl | ENSG00000134183 | ENSMUSG00000009108 | |||||||||
| UniProt | P19087 | Q8BSY7 | |||||||||
| RefSeq (mRNA) | NM_005272 | NM_008141 | |||||||||
| RefSeq (protein) | NP_005263 | NP_032167 | |||||||||
| Lokacija (UCSC) | Chr 1: 109.95 - 109.96 Mb | Chr 3: 108.22 - 108.23 Mb | |||||||||
| PubMed pretraga | [1] | [2] | |||||||||
GNAT2, Guanin nukleotid-vezujući protein G(t), alfa-2 podjedinica, je protein koji je kod ljudi kodiran GNAT2 genom.[1][2]
Transducin je tri komponentni guanin nukleotid vezujući protein (G protein), koji stimuliše spregu rodopsina i cGMP-fosfodiesteraze tokom vizuelnih impulsa. Transducin alfa podjedinice u štapićima i kupama oka su kodirane zasebnim genima. Ti geni kodiraju alfa podjedinice štapića. Alternativno splajsovanje tih gena rezultuje u dve transkriptne varijante.[2]
- ↑ 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.
- ↑ 2,0 2,1 „Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2”.
- 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. PMID 1302014.
- 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. 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. PMID 1713215.
- 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. 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.
- 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.
- 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. DOI:10.1073/pnas.85.20.7642. PMC 282248. PMID 2902634.
- 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. 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, 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. PMID 9008644.
- 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. PMC 379175. PMID 12077706.
- 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. PMC 1735242. PMID 12205108.
- 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. 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, 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. PMC 528928. PMID 15489334.
- 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. PMID 15557429.