Guanine nucleotide-binding protein G(t) subunit alpha-1


NameGuanine nucleotide-binding protein G(t) subunit alpha-1
SynonymsGNATR Transducin alpha-1 chain
Gene NameGNAT1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0020727|Guanine nucleotide-binding protein G(t) subunit alpha-1
MGAGASAEEKHSRELEKKLKEDAEKDARTVKLLLLGAGESGKSTIVKQMKIIHQDGYSLE
ECLEFIAIIYGNTLQSILAIVRAMTTLNIQYGDSARQDDARKLMHMADTIEEGTMPKEMS
DIIQRLWKDSGIQACFERASEYQLNDSAGYYLSDLERLVTPGYVPTEQDVLRSRVKTTGI
IETQFSFKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFIAALSAYDMVLVEDDEVNRMH
ESLHLFNSICNHRYFATTSIVLFLNKKDVFFEKIKKAHLSICFPDYDGPNTYEDAGNYIK
VQFLELNMRRDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF
Number of residues350
Molecular Weight40040.415
Theoretical pI5.32
GO Classification
Functions
    GDP binding
    acyl binding
    metal ion binding
    signal transducer activity
    G-protein beta/gamma-subunit complex binding
    G-protein coupled receptor binding
    GTP binding
    protein kinase binding
    GTPase activity
Processes
    adenylate cyclase-modulating G-protein coupled receptor signaling pathway
    retina development in camera-type eye
    response to light stimulus
    sensory perception of umami taste
    visual perception
    cellular response to electrical stimulus
    negative regulation of cyclic-nucleotide phosphodiesterase activity
    cell proliferation
    response to light intensity
    detection of light stimulus involved in visual perception
    phototransduction, visible light
    regulation of rhodopsin mediated signaling pathway
    signal transduction
    rhodopsin mediated signaling pathway
    positive regulation of cyclic-nucleotide phosphodiesterase activity
    eye photoreceptor cell development
    detection of chemical stimulus involved in sensory perception of bitter taste
Components
    plasma membrane
    photoreceptor disc membrane
    heterotrimeric G-protein complex
    photoreceptor outer segment membrane
    photoreceptor outer segment
    photoreceptor connecting cilium
    photoreceptor inner segment
    membrane
    cytosol
    apical plasma membrane
    neuronal cell body
General FunctionSignal transducer activity
Specific FunctionGuanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.
Transmembrane Regions
GenBank Protein ID31865
UniProtKB IDP11488
UniProtKB Entry NameGNAT1_HUMAN
Cellular LocationNone
Gene sequence
>lcl|BSEQ0020728|Guanine nucleotide-binding protein G(t) subunit alpha-1 (GNAT1)
ATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAA
GAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTGCCGGTGAGTCC
GGGAAGAGCACCATCGTCAAGCAGATGAAGATTATCCACCAGGACGGGTACTCGCTGGAA
GAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATC
GTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGACGACGCC
CGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCG
GACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCG
GAGTACCAGCTCAACGACTCGGCGGGCTACTACCTCTCCGACCTGGAGCGCCTGGTAACC
CCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATC
ATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGATGTTCGATGTGGGCGGGCAG
CGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATC
GCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGAACCGCATGCAC
GAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATC
GTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGC
ATCTGTTTCCCGGACTACGATGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAG
GTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACG
TGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATC
AAGGAGAACCTCAAAGACTGTGGCCTCTTCTGA
GenBank Gene IDX15088
GeneCard IDNone
GenAtlas ID
HGNC IDHGNC:4393
Chromosome Location3
Locus3p21
References
  1. Fong SL: Characterization of the human rod transducin alpha-subunit gene. Nucleic Acids Res. 1992 Jun 11;20(11):2865-70.[1614872 ]
  2. Lerea CL, Bunt-Milam AH, Hurley JB: Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina. Neuron. 1989 Sep;3(3):367-76.[2534964 ]
  3. Van Dop C, Medynski DC, Apone LM: Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye. Nucleic Acids Res. 1989 Jun 26;17(12):4887.[2748346 ]
  4. Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8.[16641997 ]
  5. Bell MW, Desai N, Guo XX, Ghalayini AJ: Tyrosine phosphorylation of the alpha subunit of transducin and its association with Src in photoreceptor rod outer segments. J Neurochem. 2000 Nov;75(5):2006-19.[11032890 ]
  6. Dryja TP, Hahn LB, Reboul T, Arnaud B: Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet. 1996 Jul;13(3):358-60.[8673138 ]
  7. Zhang H, Constantine R, Vorobiev S, Chen Y, Seetharaman J, Huang YJ, Xiao R, Montelione GT, Gerstner CD, Davis MW, Inana G, Whitby FG, Jorgensen EM, Hill CP, Tong L, Baehr W: UNC119 is required for G protein trafficking in sensory neurons. Nat Neurosci. 2011 Jun 5;14(7):874-80. doi: 10.1038/nn.2835.[21642972 ]
  8. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7.[15489334 ]
  9. Szabo V, Kreienkamp HJ, Rosenberg T, Gal A: p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. Hum Mutat. 2007 Jul;28(7):741-2.[17584859 ]
  10. Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA: GNAT1 associated with autosomal recessive congenital stationary night blindness. Invest Ophthalmol Vis Sci. 2012 Mar 13;53(3):1353-61. doi: 10.1167/iovs.11-8026. Print 2012 Mar.[22190596 ]

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