Entity Details

Primary name GNAT1
Entity type gene
Source Source Link

Details

PrimaryID2779
RefseqGeneNG_009831
SymbolGNAT1
NameG protein subunit alpha transducin 1
Chromosome3
Location3p21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1992-12-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGNAT1_HUMAN

GO terms

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GOName
GO:0000035 acyl binding
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste
GO:0001664 G protein-coupled receptor binding
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0001973 G protein-coupled adenosine receptor signaling pathway
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005829 cytosol
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0006457 protein folding
GO:0007165 signal transduction
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway
GO:0007601 visual perception
GO:0007603 phototransduction, visible light
GO:0008283 cell population proliferation
GO:0009416 response to light stimulus
GO:0009642 response to light intensity
GO:0016020 membrane
GO:0016056 rhodopsin mediated signaling pathway
GO:0016324 apical plasma membrane
GO:0019003 GDP binding
GO:0019901 protein kinase binding
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0032391 photoreceptor connecting cilium
GO:0042462 eye photoreceptor cell development
GO:0042622 photoreceptor outer segment membrane
GO:0043025 neuronal cell body
GO:0046872 metal ion binding
GO:0050908 detection of light stimulus involved in visual perception
GO:0050917 sensory perception of umami taste
GO:0051343 positive regulation of cyclic-nucleotide phosphodiesterase activity
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity
GO:0060041 retina development in camera-type eye
GO:0071257 cellular response to electrical stimulus
GO:0097381 photoreceptor disc membrane

Diseases

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Disease IDSourceNameDescription
616389 OMIMNight blindness, congenital stationary, 1G (CSNB1G)An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. The disease is caused by variants affecting the gene represented in this entry.
610444 OMIMNight blindness, congenital stationary, autosomal dominant 3 (CSNBAD3)A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. The disease is caused by variants affecting the gene represented in this entry.