AlphaFold predicted structure
GNAT1 · P11488
Mean pLDDT
94.2/ 100
Very high
350 residues
Confidence breakdown
- Very high(≥ 90)87%
- Confident(70–90)9%
- Low(50–70)2%
- Very low(< 50)1%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GNAT1
Chr 3p21.31G protein subunit alpha transducin 1
- Aliases:
- CSNBAD3
- MANE:
- ENST00000232461.8
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital stationary night blindness autosomal dominant 3
0.64congenital stationary night blindness
0.60congenital stationary night blindness 1G
0.51inherited retinal dystrophy
0.46retinitis pigmentosa
0.46Cone rod dystrophy
0.39cone-rod dystrophy
0.39Rod-cone dystrophy
0.39retinal degeneration
0.38Retinal dystrophy
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Guanine nucleotide-binding protein G(t) subunit alpha-1
Alpha subunit of the heterotrimeric guanine nucleotide-binding protein (G protein) that transduces signals from the G protein-coupled photoreceptor rhodopsin (RHO). Required for normal RHO-mediated light perception in retinal rod photoreceptors (PubMed:22190596). Functions as a GTPase that contains the guanine nucleotide binding site and cycles between an active GTP-bound state and an inactive GDP-bound state. Under dim light conditions, RHO promotes GDP release and GTP binding. Activates downstream effectors, including cone cGMP-phosphodiesterase (PDE6), to mediate the phototransduction cascade (By similarity). Stimulates PDE6 by binding and repositioning the PDE6 gamma inhibitory subunits (PDE6G) to promote catalytic activity (By similarity)