GNAT1 (G protein subunit alpha transducin 1)

Gene

• Entrez ID: 2779
• Gene name: G protein subunit alpha transducin 1
• Gene symbol: GNAT1
• Synonyms (NCBI Gene): CSNB1G, CSNBAD3, GBT1, GNATR, HG1F
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893740	G>A	Pathogenic	Missense variant, coding sequence variant
rs774214573	C>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs786205853	C>G	Pathogenic	Missense variant, coding sequence variant
rs786205854	A>G	Pathogenic	Missense variant, coding sequence variant
rs1293620319	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs1575415957	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT682021	hsa-miR-548an	HITS-CLIP	23706177
MIRT682020	hsa-miR-3714	HITS-CLIP	23706177
MIRT540847	hsa-miR-15a-5p	HITS-CLIP	23706177
MIRT540846	hsa-miR-15b-5p	HITS-CLIP	23706177
MIRT540845	hsa-miR-16-5p	HITS-CLIP	23706177
MIRT540844	hsa-miR-195-5p	HITS-CLIP	23706177
MIRT540843	hsa-miR-424-5p	HITS-CLIP	23706177
MIRT540842	hsa-miR-497-5p	HITS-CLIP	23706177
MIRT540841	hsa-miR-6838-5p	HITS-CLIP	23706177
MIRT540840	hsa-miR-503-5p	HITS-CLIP	23706177
MIRT540839	hsa-miR-646	HITS-CLIP	23706177
MIRT682019	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT682018	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT540838	hsa-miR-4310	HITS-CLIP	23706177
MIRT540837	hsa-miR-7157-5p	HITS-CLIP	23706177
MIRT540836	hsa-miR-103b	HITS-CLIP	23706177
MIRT540835	hsa-miR-4716-5p	HITS-CLIP	23706177
MIRT540834	hsa-miR-103a-3p	HITS-CLIP	23706177
MIRT540833	hsa-miR-107	HITS-CLIP	23706177
MIRT540832	hsa-miR-1206	HITS-CLIP	23706177
MIRT540831	hsa-miR-6853-3p	HITS-CLIP	23706177
MIRT540830	hsa-miR-4524a-5p	HITS-CLIP	23706177
MIRT540829	hsa-miR-4524b-5p	HITS-CLIP	23706177
MIRT540828	hsa-miR-4662a-5p	HITS-CLIP	23706177
MIRT540827	hsa-miR-513b-5p	HITS-CLIP	23706177
MIRT540826	hsa-miR-376a-3p	HITS-CLIP	23706177
MIRT540825	hsa-miR-376b-3p	HITS-CLIP	23706177
MIRT682017	hsa-let-7c-3p	HITS-CLIP	23706177
MIRT682016	hsa-let-7a-2-3p	HITS-CLIP	23706177
MIRT682015	hsa-let-7g-3p	HITS-CLIP	23706177
MIRT682014	hsa-miR-493-5p	HITS-CLIP	23706177
MIRT540847	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT540846	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT540845	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT540844	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT540843	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT540842	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT540841	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT540840	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT540839	hsa-miR-646	PAR-CLIP	21572407
MIRT540838	hsa-miR-4310	PAR-CLIP	21572407
MIRT540837	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT540836	hsa-miR-103b	PAR-CLIP	21572407
MIRT540835	hsa-miR-4716-5p	PAR-CLIP	21572407
MIRT540834	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT540833	hsa-miR-107	PAR-CLIP	21572407
MIRT540832	hsa-miR-1206	PAR-CLIP	21572407
MIRT540831	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT540830	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT540829	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT540828	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT540827	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT540826	hsa-miR-376a-3p	PAR-CLIP	21572407
MIRT540825	hsa-miR-376b-3p	PAR-CLIP	21572407
MIRT682021	hsa-miR-548an	HITS-CLIP	23706177
MIRT682020	hsa-miR-3714	HITS-CLIP	23706177
MIRT540847	hsa-miR-15a-5p	HITS-CLIP	23706177
MIRT540846	hsa-miR-15b-5p	HITS-CLIP	23706177
MIRT540845	hsa-miR-16-5p	HITS-CLIP	23706177
MIRT540844	hsa-miR-195-5p	HITS-CLIP	23706177
MIRT540843	hsa-miR-424-5p	HITS-CLIP	23706177
MIRT540842	hsa-miR-497-5p	HITS-CLIP	23706177
MIRT540841	hsa-miR-6838-5p	HITS-CLIP	23706177
MIRT540840	hsa-miR-503-5p	HITS-CLIP	23706177
MIRT540839	hsa-miR-646	HITS-CLIP	23706177
MIRT682019	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT682018	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT540838	hsa-miR-4310	HITS-CLIP	23706177
MIRT540837	hsa-miR-7157-5p	HITS-CLIP	23706177
MIRT540836	hsa-miR-103b	HITS-CLIP	23706177
MIRT540835	hsa-miR-4716-5p	HITS-CLIP	23706177
MIRT540834	hsa-miR-103a-3p	HITS-CLIP	23706177
MIRT540833	hsa-miR-107	HITS-CLIP	23706177
MIRT540832	hsa-miR-1206	HITS-CLIP	23706177
MIRT540831	hsa-miR-6853-3p	HITS-CLIP	23706177
MIRT540830	hsa-miR-4524a-5p	HITS-CLIP	23706177
MIRT540829	hsa-miR-4524b-5p	HITS-CLIP	23706177
MIRT540828	hsa-miR-4662a-5p	HITS-CLIP	23706177
MIRT540827	hsa-miR-513b-5p	HITS-CLIP	23706177
MIRT540826	hsa-miR-376a-3p	HITS-CLIP	23706177
MIRT540825	hsa-miR-376b-3p	HITS-CLIP	23706177
MIRT682017	hsa-let-7c-3p	HITS-CLIP	23706177
MIRT682016	hsa-let-7a-2-3p	HITS-CLIP	23706177
MIRT682015	hsa-let-7g-3p	HITS-CLIP	23706177
MIRT682014	hsa-miR-493-5p	HITS-CLIP	23706177
MIRT540847	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT540846	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT540845	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT540844	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT540843	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT540842	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT540841	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT540840	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT540839	hsa-miR-646	PAR-CLIP	21572407
MIRT540838	hsa-miR-4310	PAR-CLIP	21572407
MIRT540837	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT540836	hsa-miR-103b	PAR-CLIP	21572407
MIRT540835	hsa-miR-4716-5p	PAR-CLIP	21572407
MIRT540834	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT540833	hsa-miR-107	PAR-CLIP	21572407
MIRT540832	hsa-miR-1206	PAR-CLIP	21572407
MIRT540831	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT540830	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT540829	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT540828	hsa-miR-4662a-5p	PAR-CLIP	21572407
MIRT540827	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT540826	hsa-miR-376a-3p	PAR-CLIP	21572407
MIRT540825	hsa-miR-376b-3p	PAR-CLIP	21572407
MIRT1023664	hsa-miR-103a	CLIP-seq
MIRT1023665	hsa-miR-1267	CLIP-seq
MIRT1023666	hsa-miR-1273f	CLIP-seq
MIRT1023667	hsa-miR-1290	CLIP-seq
MIRT1023668	hsa-miR-1298	CLIP-seq
MIRT1023669	hsa-miR-1322	CLIP-seq
MIRT1023670	hsa-miR-15a	CLIP-seq
MIRT1023671	hsa-miR-15b	CLIP-seq
MIRT1023672	hsa-miR-16	CLIP-seq
MIRT1023673	hsa-miR-181a	CLIP-seq
MIRT1023674	hsa-miR-181b	CLIP-seq
MIRT1023675	hsa-miR-181c	CLIP-seq
MIRT1023676	hsa-miR-181d	CLIP-seq
MIRT1023677	hsa-miR-195	CLIP-seq
MIRT1023678	hsa-miR-2278	CLIP-seq
MIRT1023679	hsa-miR-23a	CLIP-seq
MIRT1023680	hsa-miR-23b	CLIP-seq
MIRT1023681	hsa-miR-23c	CLIP-seq
MIRT1023682	hsa-miR-3128	CLIP-seq
MIRT1023683	hsa-miR-3145-3p	CLIP-seq
MIRT1023684	hsa-miR-3167	CLIP-seq
MIRT1023685	hsa-miR-3613-3p	CLIP-seq
MIRT1023686	hsa-miR-3617	CLIP-seq
MIRT1023687	hsa-miR-376a	CLIP-seq
MIRT1023688	hsa-miR-376b	CLIP-seq
MIRT1023689	hsa-miR-3976	CLIP-seq
MIRT1023690	hsa-miR-424	CLIP-seq
MIRT1023691	hsa-miR-4262	CLIP-seq
MIRT1023692	hsa-miR-4274	CLIP-seq
MIRT1023693	hsa-miR-4470	CLIP-seq
MIRT1023694	hsa-miR-4524	CLIP-seq
MIRT1023695	hsa-miR-4635	CLIP-seq
MIRT1023696	hsa-miR-4639-5p	CLIP-seq
MIRT1023697	hsa-miR-4668-3p	CLIP-seq
MIRT1023698	hsa-miR-4676-5p	CLIP-seq
MIRT1023699	hsa-miR-4684-3p	CLIP-seq
MIRT1023700	hsa-miR-4704-3p	CLIP-seq
MIRT1023701	hsa-miR-4709-3p	CLIP-seq
MIRT1023702	hsa-miR-497	CLIP-seq
MIRT1023703	hsa-miR-503	CLIP-seq
MIRT1023704	hsa-miR-513b	CLIP-seq
MIRT1023705	hsa-miR-518a-5p	CLIP-seq
MIRT1023706	hsa-miR-527	CLIP-seq
MIRT1023707	hsa-miR-548a-3p	CLIP-seq
MIRT1023708	hsa-miR-548c-3p	CLIP-seq
MIRT1023709	hsa-miR-548e	CLIP-seq
MIRT1023710	hsa-miR-548f	CLIP-seq
MIRT1023711	hsa-miR-575	CLIP-seq
MIRT1023712	hsa-miR-605	CLIP-seq
MIRT1023713	hsa-miR-641	CLIP-seq
MIRT1023714	hsa-miR-876-5p	CLIP-seq
MIRT1023664	hsa-miR-103a	CLIP-seq
MIRT1023715	hsa-miR-1266	CLIP-seq
MIRT1023716	hsa-miR-134	CLIP-seq
MIRT1023717	hsa-miR-148a	CLIP-seq
MIRT1023718	hsa-miR-148b	CLIP-seq
MIRT1023719	hsa-miR-152	CLIP-seq
MIRT1023670	hsa-miR-15a	CLIP-seq
MIRT1023671	hsa-miR-15b	CLIP-seq
MIRT1023672	hsa-miR-16	CLIP-seq
MIRT1023720	hsa-miR-1825	CLIP-seq
MIRT1023677	hsa-miR-195	CLIP-seq
MIRT1023721	hsa-miR-1972	CLIP-seq
MIRT1023722	hsa-miR-204	CLIP-seq
MIRT1023723	hsa-miR-211	CLIP-seq
MIRT1023724	hsa-miR-299-3p	CLIP-seq
MIRT1023725	hsa-miR-3065-5p	CLIP-seq
MIRT1023726	hsa-miR-3118	CLIP-seq
MIRT1023727	hsa-miR-3121-5p	CLIP-seq
MIRT1023728	hsa-miR-3126-5p	CLIP-seq
MIRT1023729	hsa-miR-3136-5p	CLIP-seq
MIRT1023730	hsa-miR-3151	CLIP-seq
MIRT1023731	hsa-miR-3192	CLIP-seq
MIRT1023732	hsa-miR-3664-3p	CLIP-seq
MIRT1023733	hsa-miR-3689a-3p	CLIP-seq
MIRT1023734	hsa-miR-3689c	CLIP-seq
MIRT1023687	hsa-miR-376a	CLIP-seq
MIRT1023688	hsa-miR-376b	CLIP-seq
MIRT1023735	hsa-miR-3944-5p	CLIP-seq
MIRT1023690	hsa-miR-424	CLIP-seq
MIRT1023736	hsa-miR-4439	CLIP-seq
MIRT1023737	hsa-miR-4446-5p	CLIP-seq
MIRT1023738	hsa-miR-4447	CLIP-seq
MIRT1023739	hsa-miR-4452	CLIP-seq
MIRT1023740	hsa-miR-4462	CLIP-seq
MIRT1023741	hsa-miR-4472	CLIP-seq
MIRT1023742	hsa-miR-4488	CLIP-seq
MIRT1023743	hsa-miR-4491	CLIP-seq
MIRT1023744	hsa-miR-4513	CLIP-seq
MIRT1023745	hsa-miR-4518	CLIP-seq
MIRT1023694	hsa-miR-4524	CLIP-seq
MIRT1023746	hsa-miR-4657	CLIP-seq
MIRT1023747	hsa-miR-4697-5p	CLIP-seq
MIRT1023700	hsa-miR-4704-3p	CLIP-seq
MIRT1023748	hsa-miR-4728-5p	CLIP-seq
MIRT1023749	hsa-miR-4731-5p	CLIP-seq
MIRT1023750	hsa-miR-4755-5p	CLIP-seq
MIRT1023751	hsa-miR-491-5p	CLIP-seq
MIRT1023702	hsa-miR-497	CLIP-seq
MIRT1023703	hsa-miR-503	CLIP-seq
MIRT1023704	hsa-miR-513b	CLIP-seq
MIRT1023752	hsa-miR-623	CLIP-seq
MIRT1023664	hsa-miR-103a	CLIP-seq
MIRT2236357	hsa-miR-1289	CLIP-seq
MIRT1023669	hsa-miR-1322	CLIP-seq
MIRT1023670	hsa-miR-15a	CLIP-seq
MIRT1023671	hsa-miR-15b	CLIP-seq
MIRT1023672	hsa-miR-16	CLIP-seq
MIRT1023677	hsa-miR-195	CLIP-seq
MIRT2236358	hsa-miR-221	CLIP-seq
MIRT2236359	hsa-miR-222	CLIP-seq
MIRT1023728	hsa-miR-3126-5p	CLIP-seq
MIRT2236360	hsa-miR-3146	CLIP-seq
MIRT1023730	hsa-miR-3151	CLIP-seq
MIRT2236361	hsa-miR-3173-3p	CLIP-seq
MIRT1023731	hsa-miR-3192	CLIP-seq
MIRT2236362	hsa-miR-3612	CLIP-seq
MIRT1023733	hsa-miR-3689a-3p	CLIP-seq
MIRT1023734	hsa-miR-3689c	CLIP-seq
MIRT1023687	hsa-miR-376a	CLIP-seq
MIRT1023688	hsa-miR-376b	CLIP-seq
MIRT2236363	hsa-miR-3915	CLIP-seq
MIRT2236364	hsa-miR-3928	CLIP-seq
MIRT1023690	hsa-miR-424	CLIP-seq
MIRT2236365	hsa-miR-4260	CLIP-seq
MIRT2236366	hsa-miR-4270	CLIP-seq
MIRT2236367	hsa-miR-4419a	CLIP-seq
MIRT2236368	hsa-miR-4441	CLIP-seq
MIRT2236369	hsa-miR-4443	CLIP-seq
MIRT1023738	hsa-miR-4447	CLIP-seq
MIRT1023741	hsa-miR-4472	CLIP-seq
MIRT2236370	hsa-miR-4476	CLIP-seq
MIRT2236371	hsa-miR-4510	CLIP-seq
MIRT1023694	hsa-miR-4524	CLIP-seq
MIRT2236372	hsa-miR-4533	CLIP-seq
MIRT1023696	hsa-miR-4639-5p	CLIP-seq
MIRT2236373	hsa-miR-4640-5p	CLIP-seq
MIRT2236374	hsa-miR-4643	CLIP-seq
MIRT2236375	hsa-miR-466	CLIP-seq
MIRT1023698	hsa-miR-4676-5p	CLIP-seq
MIRT2236376	hsa-miR-4722-3p	CLIP-seq
MIRT2236377	hsa-miR-4726-5p	CLIP-seq
MIRT2236378	hsa-miR-4727-5p	CLIP-seq
MIRT1023748	hsa-miR-4728-5p	CLIP-seq
MIRT1023749	hsa-miR-4731-5p	CLIP-seq
MIRT2236379	hsa-miR-4736	CLIP-seq
MIRT2236380	hsa-miR-4769-3p	CLIP-seq
MIRT2236381	hsa-miR-4779	CLIP-seq
MIRT2236382	hsa-miR-4789-3p	CLIP-seq
MIRT2236383	hsa-miR-485-5p	CLIP-seq
MIRT1023751	hsa-miR-491-5p	CLIP-seq
MIRT1023702	hsa-miR-497	CLIP-seq
MIRT1023703	hsa-miR-503	CLIP-seq
MIRT1023704	hsa-miR-513b	CLIP-seq
MIRT2236384	hsa-miR-548v	CLIP-seq
MIRT1023711	hsa-miR-575	CLIP-seq
MIRT2236385	hsa-miR-650	CLIP-seq
MIRT2236386	hsa-miR-657	CLIP-seq
MIRT1023715	hsa-miR-1266	CLIP-seq
MIRT1023716	hsa-miR-134	CLIP-seq
MIRT1023726	hsa-miR-3118	CLIP-seq
MIRT1023729	hsa-miR-3136-5p	CLIP-seq
MIRT1023736	hsa-miR-4439	CLIP-seq
MIRT1023740	hsa-miR-4462	CLIP-seq
MIRT1023744	hsa-miR-4513	CLIP-seq
MIRT1023745	hsa-miR-4518	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000035	Function	Acyl binding	ISS
GO:0000166	Function	Nucleotide binding	IEA
GO:0001580	Process	Detection of chemical stimulus involved in sensory perception of bitter taste	IEA
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001750	Component	Photoreceptor outer segment	IDA	2534964
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IDA	2534964
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	NAS	17584859
GO:0003924	Function	GTPase activity	TAS
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005834	Component	Heterotrimeric G-protein complex	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	NAS	8673138, 17584859
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	8673138
GO:0007602	Process	Phototransduction	IEA
GO:0007603	Process	Phototransduction, visible light	IBA
GO:0007603	Process	Phototransduction, visible light	IMP	17584859
GO:0007632	Process	Visual behavior	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0009416	Process	Response to light stimulus	ISS
GO:0009583	Process	Detection of light stimulus	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0014046	Process	Dopamine secretion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	NAS	7822269
GO:0016056	Process	G protein-coupled opsin signaling pathway	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0019003	Function	GDP binding	ISS
GO:0019901	Function	Protein kinase binding	ISS
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	TAS
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042622	Component	Photoreceptor outer segment membrane	ISS
GO:0042670	Process	Retinal cone cell differentiation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IBA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	17584859
GO:0050917	Process	Sensory perception of umami taste	IEA
GO:0051344	Process	Negative regulation of cyclic-nucleotide phosphodiesterase activity	ISS
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0071257	Process	Cellular response to electrical stimulus	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0097719	Process	Neural tissue regeneration	IEA
GO:0120302	Process	Background adaptation	IEA

Other IDs

• MIM: 139330
• HGNC: 4393
• e!Ensembl: ENSG00000114349

Protein

• UniProt ID: P11488
• Protein name: Guanine nucleotide-binding protein G(t) subunit alpha-1 (Transducin alpha-1 chain)
• Protein function: Functions as a signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (PubMed:22190596). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-c
• PDB: 3RBQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00503	G-alpha	9 → 339	G-protein alpha subunit	Domain

• Tissue specificity: TISSUE SPECIFICITY: Rod photoreceptor cells (PubMed:1614872). Predominantly expressed in the retina followed by the ciliary body, iris and retinal pigment epithelium (PubMed:22190596). {ECO:0000269|PubMed:1614872, ECO:0000269|PubMed:22190596}.
• Sequence:

  MGAGASAEEKHSRELEKKLKEDAEKDARTVKLLLLGAGESGKSTIVKQMKIIHQDGYSLE
  ECLEFIAIIYGNTLQSILAIVRAMTTLNIQYGDSARQDDARKLMHMADTIEEGTMPKEMS
  DIIQRLWKDSGIQACFERASEYQLNDSAGYYLSDLERLVTPGYVPTEQDVLRSRVKTTGI
  IETQFSFKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFIAALSAYDMVLVEDDEVNRMH
  ESLHLFNSICNHRYFATTSIVLFLNKKDVFFEKIKKAHLSICFPDYDGPNTYEDAGNYIK
  VQFLELNMRRDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF

• Sequence length: 350

Pathways

KEGG:

Phototransduction

Reactome:

PLC beta mediated events
G-protein activation
Activation of the phototransduction cascade
Inactivation, recovery and regulation of the phototransduction cascade
G alpha (i) signalling events
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital stationary night blindness 1G	Likely pathogenic; Pathogenic	rs143481438, rs786205854, rs374913800	RCV002476734 RCV000171141 RCV000578484	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital stationary night blindness autosomal dominant 3	Likely pathogenic; Pathogenic	rs143481438, rs786205853, rs104893740	RCV002476734 RCV000171140 RCV000017277	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs778059585	RCV001075209	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs1575415957, rs1293620319	RCV001003035 RCV001003036	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STATIONARY NIGHT BLINDNESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Stationary Night Blindness, Dominant	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GNAT1-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DEGENERATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27912775		★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	31696758	Associate	★☆☆☆☆ Found in Text Mining only
Cone-rod synaptic disorder, congenital nonprogressive	Congenital stationary night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital stationary night blindness	Congenital stationary night blindness	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	30994864		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30994864		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30994864		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	26472407	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
LATE-ONSET RETINAL DEGENERATION (disorder)	RETINAL DEGENERATION	BEFREE	26472407		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30132541		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27912775, 30132541		★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	19578023, 27977773, 31696758, 34064005	Associate	★☆☆☆☆ Found in Text Mining only
Night Blindness Congenital Stationary Autosomal Dominant 1	Night blindness, congenital stationary	Pubtator	29850563	Associate	★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	17584859, 22190596, 27977773		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	ORPHANET_DG	22190596, 8673138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary	Night blindness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Night blindness	UNIPROT_DG	17584859, 8673138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Night blindness	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Night blindness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night Blindness, Congenital Stationary, Autosomal Dominant 3	Night blindness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Night blindness, congenital stationary, type 1	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Night Blindness, Congenital Stationary, Type 1A	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G	Night Blindness, Congenital Stationary	UNIPROT_DG	22190596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G	Night Blindness, Congenital Stationary	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G	Night Blindness, Congenital Stationary	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)	Night blindness	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oguchi disease	Oguchi disease	Pubtator	31696758	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Degeneration	Retinal degeneration	Pubtator	26472407	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26472407, 30975014		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	26472407	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	27977773		★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30132541		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26472407	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Csnb	Congenital stationary night blindness, X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only