Property Summary

NCBI Gene PubMed Count 31
PubMed Score 21.50
PubTator Score 23.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
group 3 medulloblastoma 1.500 0.032

Synonym

Accession P11488 Q4VBN2
Symbols GBT1
GNATR
CSNB1G
CSNBAD3

Gene

PDB

3RBQ  

Gene RIF (5)

PMID Text
26472407 These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously.
23292452 Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma.
22190596 These data suggest that a homozygous missense mutation in GNAT1 is associated with autosomal recessive stationary night blindness.
20801516 Observational study of genetic testing. (HuGE Navigator)
17222360 Expression of GNAT1 gene is down-regulated or absent in nasopharyngeal carcinoma tissues.

AA Sequence

MGAGASAEEKHSRELEKKLKEDAEKDARTVKLLLLGAGESGKSTIVKQMKIIHQDGYSLEECLEFIAIIY      1 - 70
GNTLQSILAIVRAMTTLNIQYGDSARQDDARKLMHMADTIEEGTMPKEMSDIIQRLWKDSGIQACFERAS     71 - 140
EYQLNDSAGYYLSDLERLVTPGYVPTEQDVLRSRVKTTGIIETQFSFKDLNFRMFDVGGQRSERKKWIHC    141 - 210
FEGVTCIIFIAALSAYDMVLVEDDEVNRMHESLHLFNSICNHRYFATTSIVLFLNKKDVFFEKIKKAHLS    211 - 280
ICFPDYDGPNTYEDAGNYIKVQFLELNMRRDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF    281 - 350
//

Text Mined References (32)

PMID Year Title
26472407 2016 A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
23292452 2013 Screening of candidate tumor-suppressor genes in 3p21.3 and investigation of the methylation of gene promoters in oral squamous cell carcinoma.
22190596 2012 GNAT1 associated with autosomal recessive congenital stationary night blindness.
21642972 2011 UNC119 is required for G protein trafficking in sensory neurons.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
18240029 2008 Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors.
17584859 2007 p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17222360 2007 [Expression, loss of heterozygosity, and methylation of GNAT1 gene in nasopharyngeal carcinoma].
16892066 2006 Mechanism of the receptor-catalyzed activation of heterotrimeric G proteins.
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