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GNAT1  -  guanine nucleotide binding protein (G...

Homo sapiens

Synonyms: CSNBAD3, GBT1, GNATR, Guanine nucleotide-binding protein G(t) subunit alpha-1, Transducin alpha-1 chain
 
 
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High impact information on GNAT1

  • Mutations of GNAT1 and GNAT2, which encode the retinal G proteins (transducins), are rare causes of specific congenital visual defects [1].
  • These semaphorin genes are approximately 70 kb apart flanking two GTP-binding protein genes, GNAI-2 and GNAT-1 [2].
  • Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye [3].
  • Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22 [4].
  • Thus, this family has adCSNB caused by a different gene from the previously identified RHO, PDE6B, and GNAT1 [5].
 

Biological context of GNAT1

References

  1. Genetic diseases associated with heterotrimeric G proteins. Weinstein, L.S., Chen, M., Xie, T., Liu, J. Trends Pharmacol. Sci. (2006) [Pubmed]
  2. Human semaphorins A(V) and IV reside in the 3p21.3 small cell lung cancer deletion region and demonstrate distinct expression patterns. Sekido, Y., Bader, S., Latif, F., Chen, J.Y., Duh, F.M., Wei, M.H., Albanesi, J.P., Lee, C.C., Lerman, M.I., Minna, J.D. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  3. Nucleotide sequence for a cDNA encoding the alpha subunit of retinal transducin (GNAT1) isolated from the human eye. Van Dop, C., Medynski, D.C., Apone, L.M. Nucleic Acids Res. (1989) [Pubmed]
  4. Regional mapping of a human rod alpha-transducin (GNAT1) gene to chromosome 3p22. Ngo, J.T., Bateman, J.B., Klisak, I., Mohandas, T., Van Dop, C., Sparkes, R.S. Genomics (1993) [Pubmed]
  5. A dominant form of congenital stationary night blindness (adCSNB) in a large Chinese family. Liu, X., Zhuang, S., Hu, S., Zhang, F., Lin, B., Li, X., Xu, D., Chen, S.H. Ann. Hum. Genet. (2005) [Pubmed]
  6. G protein alpha subunit multigene family in the Japanese puffer fish Fugu rubripes: PCR from a compact vertebrate genome. Sarwal, M.M., Sontag, J.M., Hoang, L., Brenner, S., Wilkie, T.M. Genome Res. (1996) [Pubmed]
 
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