GNAT2

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Guanin nukleotid-vezujući protein (G protein), alfa inhibirajući polipeptid 2
Identifikatori
SimboliGNAT2; ACHM4; GNATC
Vanjski IDOMIM: 139340 MGI: 95779 HomoloGene: 21092 GeneCards: GNAT2 Gene
Ontologija gena
Molekularna funkcija • vezivanje nukleotida
• aktivnost prenosa signala
• GTP vezivanje
• aktivnost G-protein spregnutog fotoreceptora
Celularna komponenta • heterotrimerni G-proteinski kompleks
Biološki proces • prenos signala
• signalni put G-protein spregnutog receptora
• vizuelna percepcija
• fototransdukcija
• respons na stimulus
Pregled RNK izražavanja
podaci
Ortolozi
VrstaČovekMiš
Entrez278014686
EnsemblENSG00000134183ENSMUSG00000009108
UniProtP19087Q8BSY7
RefSeq (mRNA)NM_005272NM_008141
RefSeq (protein)NP_005263NP_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]

Reference

  1. ↑ 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. ↑ 2,0 2,1 „Entrez Gene: GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2”. 

Literatura

  • 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. 
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3.6.1
Pirofosfataza (Neorganska, Tiamin) • Apiraza • Tiamin trifosfataza
3.6.23.6.3-4: ATPaza
3.6.3
Cu++ (3.6.3.4)
Menkes/ATP7A • Vilson/ATP7B
Ca+ (3.6.3.8)
SERCA (ATP2A1, ATP2A2, ATP2A3) • Membrana plazme (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
Druge P-tip ATPaze
ATP8B1 • ATP10A • ATP11B • ATP12A • ATP13A2 • ATP13A3 •
3.6.4
Dinein • Kinezin • Miozin
3.6.5: GTPaze
Gαs • Gαi (GNAI1, GNAI2, GNAI3) • Gαq/11 (GNAQ, GNA11) • Gα12/13 (GNA12, GNA13) • Transducin (GNAT1, GNAT2)
Ras • Rab (Rab27) • Arf (Arf6) • Ran • Rheb • Ro familija (RhoA, RhoB, CDC42, Rac1) • Rap
3.6.5.3: Protein-sintetišuće GTPaze
Prokariotski (IF-2, EF-Tu, EF-G) • Eukariotski
3.6.5.5-6: Polimerizacioni motori
B enzm: 1.1/2/3/4/5/6/7/8/10/11/13/14/15-18, 2.1/2/3/4/5/6/7/8, 2.7.10, 2.7.11-12, 3.1/2/3/4/5/6/7, 3.1.3.48, 3.4.21/22/23/24, 4.1/2/3/4/5/6, 5.1/2/3/4/99, 6.1-3/4/5-6