Human Gene GNAT1 (ENST00000232461.8) from GENCODE V44
Description: Homo sapiens G protein subunit alpha transducin 1 (GNAT1), transcript variant 1, mRNA. (from RefSeq NM_144499) RefSeq Summary (NM_144499): Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]. Gencode Transcript: ENST00000232461.8 Gencode Gene: ENSG00000114349.10 Transcript (Including UTRs) Position: hg38 chr3:50,191,610-50,197,696 Size: 6,087 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr3:50,191,726-50,194,955 Size: 3,230 Coding Exon Count: 8
ID:GNAT1_HUMAN DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(t) subunit alpha-1; AltName: Full=Transducin alpha-1 chain; FUNCTION: Guanine 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. SUBUNIT: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts (when myristoylated) with UNC119; interaction is required for localization in sensory neurons. TISSUE SPECIFICITY: Rod. DISEASE: Defects in GNAT1 are the cause of congenital stationary night blindness autosomal dominant type 3 (CSNBAD3) [MIM:610444]; also known as congenital stationary night blindness Nougaret type. Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. SIMILARITY: Belongs to the G-alpha family. G(i/o/t/z) subfamily. WEB RESOURCE: Name=Mutations of the GNAT1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/gntmut.htm";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P11488
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.