GNAT1

GNAT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3RBQ
Identifiers
Aliases	GNAT1 , CSNBAD3, GBT1, GNATR, CSNB1G, G protein subunit alpha transducin 1, HG1F
External IDs	OMIM: 139330 MGI: 95778 HomoloGene: 20084 GeneCards: GNAT1
Gene location (Human) Chr. Chromosome 3 (human) [1] Band 3p21.31 Start 50,191,610 bp [1] End 50,197,696 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9 F1|9 58.86 cM Start 107,551,673 bp [2] End 107,556,911 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in choroid right lobe of liver retina retinal pigment epithelium prefrontal cortex spinal cord hippocampal formation blood temporal lobe mesencephalon Top expressed in retinal pigment epithelium iris morula ciliary body blastocyst outer nuclear layer conjunctival fornix corneal stroma left lobe of liver proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GDP binding metal ion binding acyl binding guanyl nucleotide binding G protein-coupled receptor binding protein kinase binding signal transducer activity GTP binding G-protein beta/gamma-subunit complex binding GTPase activity Cellular component cytoplasm cytosol plasma membrane photoreceptor connecting cilium neuronal cell body apical plasma membrane photoreceptor disc membrane photoreceptor outer segment membrane photoreceptor outer segment heterotrimeric G-protein complex photoreceptor inner segment membrane cell projection Biological process response to light stimulus response to stimulus regulation of rhodopsin mediated signaling pathway detection of chemical stimulus involved in sensory perception of bitter taste detection of light stimulus involved in visual perception retina development in camera-type eye eye photoreceptor cell development response to light intensity negative regulation of cyclic-nucleotide phosphodiesterase activity cell population proliferation positive regulation of cyclic-nucleotide phosphodiesterase activity phototransduction cellular response to electrical stimulus signal transduction protein folding adenylate cyclase-modulating G protein-coupled receptor signaling pathway phototransduction, visible light rhodopsin mediated signaling pathway sensory perception of umami taste visual perception G protein-coupled receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2779 14685 Ensembl ENSG00000114349 ENSMUSG00000034837 UniProt P11488 P20612 RefSeq (mRNA) NM_000172 NM_144499 NM_008140 RefSeq (protein) NP_000163 NP_653082 NP_032166 Location (UCSC) Chr 3: 50.19 – 50.2 Mb Chr 9: 107.55 – 107.56 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Guanine nucleotide-binding protein G(t) subunit alpha-1 is a protein that in humans is encoded by the GNAT1 gene. ^[5]

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 rods. Alternative splicing of this gene results in two transcript variants. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000114349 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034837 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1".

Further reading

• 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. S2CID   31888533.
• Bourne HR, Sanders DA, McCormick F (1991). "The GTPase superfamily: conserved structure and molecular mechanism". Nature. 349 (6305): 117–27. Bibcode:1991Natur.349..117B. doi:10.1038/349117a0. PMID   1898771. S2CID   4349901.
• Fong SL (1992). "Characterization of the human rod transducin alpha-subunit gene". Nucleic Acids Res. 20 (11): 2865–70. doi:10.1093/nar/20.11.2865. PMC   336934 . PMID   1614872.
• 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.
• Van Dop C, Medynski DC, Apone LM (1989). "Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye". Nucleic Acids Res. 17 (12): 4887. doi:10.1093/nar/17.12.4887. PMC   318051 . PMID   2748346.
• 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 . PMC   282248 . PMID   2902634.
• Ngo JT, Bateman JB, Klisak I, et al. (1994). "Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22". Genomics. 18 (3): 724–5. doi:10.1016/S0888-7543(05)80384-2. PMID   8307584.
• Dryja TP, Hahn LB, Reboul T, Arnaud B (1996). "Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness". Nat. Genet. 13 (3): 358–60. doi:10.1038/ng0796-358. PMID   8673138. S2CID   30551750.
• Chen CK, Wieland T, Simon MI (1996). "RGS-r, a retinal specific RGS protein, binds an intermediate conformation of transducin and enhances recycling". Proc. Natl. Acad. Sci. U.S.A. 93 (23): 12885–9. Bibcode:1996PNAS...9312885C. doi: 10.1073/pnas.93.23.12885 . PMC   24015 . PMID   8917514.
• Seibert C, Harteneck C, Ernst OP, et al. (2000). "Activation of the rod G-protein Gt by the thrombin receptor (PAR1) expressed in Sf9 cells". Eur. J. Biochem. 266 (3): 911–6. doi:10.1046/j.1432-1327.1999.00927.x. PMID   10583385.
• Wieland T, Bahtijari N, Zhou XB, et al. (2000). "Polarity exchange at the interface of regulators of G protein signaling with G protein alpha-subunits". J. Biol. Chem. 275 (37): 28500–6. doi: 10.1074/jbc.M004187200 . PMID   10878019.
• Bell MW, Desai N, Guo XX, Ghalayini AJ (2000). "Tyrosine phosphorylation of the alpha subunit of transducin and its association with Src in photoreceptor rod outer segments". J. Neurochem. 75 (5): 2006–19. doi:10.1046/j.1471-4159.2000.0752006.x. PMID   11032890. S2CID   17501930.
• Hu G, Wensel TG (2002). "R9AP, a membrane anchor for the photoreceptor GTPase accelerating protein, RGS9-1". Proc. Natl. Acad. Sci. U.S.A. 99 (15): 9755–60. Bibcode:2002PNAS...99.9755H. doi: 10.1073/pnas.152094799 . PMC   125004 . PMID   12119397.
• 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 . PMC   139241 . PMID   12477932.
• 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.
• Muzny DM, Scherer SE, Kaul R, et al. (2006). "The DNA sequence, annotation and analysis of human chromosome 3". Nature. 440 (7088): 1194–8. Bibcode:2006Natur.440.1194M. doi: 10.1038/nature04728 . PMID   16641997.

External links

• Overview of all the structural information available in the PDB for UniProt : P11488 (Guanine nucleotide-binding protein G(t) subunit alpha-1) at the PDBe-KB .