GYS1 (glycogen synthase 1)

Gene

• Entrez ID: 2997
• Gene name: Glycogen synthase 1
• Gene symbol: GYS1
• Synonyms (NCBI Gene): GSY, GYS
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively s

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434584	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs561646250	C>A,G,T	Uncertain-significance, benign, likely-benign, pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs587777375	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs775324036	->T	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1568619900	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003080	hsa-miR-122-5p	qRT-PCR, Western blot, Northern blot	18073344
MIRT001626	hsa-let-7b-5p	pSILAC	18668040
MIRT003080	hsa-miR-122-5p	Microarray	17612493
MIRT028992	hsa-miR-26b-5p	Microarray	19088304
MIRT001626	hsa-let-7b-5p	Proteomics;Other	18668040
MIRT718506	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT718505	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT718504	hsa-miR-3183	HITS-CLIP	19536157
MIRT718503	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT718502	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT718501	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT718500	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT718499	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT718498	hsa-miR-326	HITS-CLIP	19536157
MIRT718497	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT718496	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT718495	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT718494	hsa-miR-20a-3p	HITS-CLIP	19536157
MIRT718493	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT718492	hsa-miR-6081	HITS-CLIP	19536157
MIRT718491	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT718490	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT718489	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT718488	hsa-miR-516b-5p	HITS-CLIP	19536157
MIRT727518	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727519	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT735243	hsa-miR-140-5p	Luciferase reporter assay, Western blotting, qRT-PCR	34113143
MIRT718506	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT718505	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT718504	hsa-miR-3183	HITS-CLIP	19536157
MIRT718503	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT718502	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT718501	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT718500	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT718499	hsa-miR-518c-5p	HITS-CLIP	19536157
MIRT718498	hsa-miR-326	HITS-CLIP	19536157
MIRT718497	hsa-miR-330-5p	HITS-CLIP	19536157
MIRT718496	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT718495	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT718494	hsa-miR-20a-3p	HITS-CLIP	19536157
MIRT718493	hsa-miR-324-5p	HITS-CLIP	19536157
MIRT718492	hsa-miR-6081	HITS-CLIP	19536157
MIRT718491	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT718490	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT718489	hsa-miR-3191-5p	HITS-CLIP	19536157
MIRT718488	hsa-miR-516b-5p	HITS-CLIP	19536157
MIRT1038912	hsa-miR-1184	CLIP-seq
MIRT1038913	hsa-miR-1205	CLIP-seq
MIRT1038914	hsa-miR-1252	CLIP-seq
MIRT1038915	hsa-miR-128	CLIP-seq
MIRT1038916	hsa-miR-1299	CLIP-seq
MIRT1038917	hsa-miR-1343	CLIP-seq
MIRT1038918	hsa-miR-197	CLIP-seq
MIRT1038919	hsa-miR-204	CLIP-seq
MIRT1038920	hsa-miR-211	CLIP-seq
MIRT1038921	hsa-miR-2681	CLIP-seq
MIRT1038922	hsa-miR-27a	CLIP-seq
MIRT1038923	hsa-miR-27b	CLIP-seq
MIRT1038924	hsa-miR-3130-5p	CLIP-seq
MIRT1038925	hsa-miR-3153	CLIP-seq
MIRT1038926	hsa-miR-3158-5p	CLIP-seq
MIRT1038927	hsa-miR-3176	CLIP-seq
MIRT1038928	hsa-miR-3180-5p	CLIP-seq
MIRT1038929	hsa-miR-3184	CLIP-seq
MIRT1038930	hsa-miR-3192	CLIP-seq
MIRT1038931	hsa-miR-320a	CLIP-seq
MIRT1038932	hsa-miR-320b	CLIP-seq
MIRT1038933	hsa-miR-320c	CLIP-seq
MIRT1038934	hsa-miR-320d	CLIP-seq
MIRT1038935	hsa-miR-3545-5p	CLIP-seq
MIRT1038936	hsa-miR-3657	CLIP-seq
MIRT1038937	hsa-miR-3672	CLIP-seq
MIRT1038938	hsa-miR-3909	CLIP-seq
MIRT1038939	hsa-miR-3922-3p	CLIP-seq
MIRT1038940	hsa-miR-3937	CLIP-seq
MIRT1038941	hsa-miR-3938	CLIP-seq
MIRT1038942	hsa-miR-423-5p	CLIP-seq
MIRT1038943	hsa-miR-4254	CLIP-seq
MIRT1038944	hsa-miR-4277	CLIP-seq
MIRT1038945	hsa-miR-4287	CLIP-seq
MIRT1038946	hsa-miR-4290	CLIP-seq
MIRT1038947	hsa-miR-4292	CLIP-seq
MIRT1038948	hsa-miR-4308	CLIP-seq
MIRT1038949	hsa-miR-4314	CLIP-seq
MIRT1038950	hsa-miR-4330	CLIP-seq
MIRT1038951	hsa-miR-4419a	CLIP-seq
MIRT1038952	hsa-miR-4429	CLIP-seq
MIRT1038953	hsa-miR-4460	CLIP-seq
MIRT1038954	hsa-miR-4468	CLIP-seq
MIRT1038955	hsa-miR-4482	CLIP-seq
MIRT1038956	hsa-miR-4510	CLIP-seq
MIRT1038957	hsa-miR-4514	CLIP-seq
MIRT1038958	hsa-miR-4534	CLIP-seq
MIRT1038959	hsa-miR-4643	CLIP-seq
MIRT1038960	hsa-miR-4645-5p	CLIP-seq
MIRT1038961	hsa-miR-4646-5p	CLIP-seq
MIRT1038962	hsa-miR-4668-5p	CLIP-seq
MIRT1038963	hsa-miR-4669	CLIP-seq
MIRT1038964	hsa-miR-4673	CLIP-seq
MIRT1038965	hsa-miR-4683	CLIP-seq
MIRT1038966	hsa-miR-4685-3p	CLIP-seq
MIRT1038967	hsa-miR-4691-5p	CLIP-seq
MIRT1038968	hsa-miR-4692	CLIP-seq
MIRT1038969	hsa-miR-4695-3p	CLIP-seq
MIRT1038970	hsa-miR-4713-3p	CLIP-seq
MIRT1038971	hsa-miR-4747-5p	CLIP-seq
MIRT1038972	hsa-miR-4757-5p	CLIP-seq
MIRT1038973	hsa-miR-4782-5p	CLIP-seq
MIRT1038974	hsa-miR-4786-3p	CLIP-seq
MIRT1038975	hsa-miR-4802-5p	CLIP-seq
MIRT1038976	hsa-miR-5096	CLIP-seq
MIRT1038977	hsa-miR-513a-5p	CLIP-seq
MIRT1038978	hsa-miR-516b	CLIP-seq
MIRT1038979	hsa-miR-520a-5p	CLIP-seq
MIRT1038980	hsa-miR-525-5p	CLIP-seq
MIRT1038981	hsa-miR-670	CLIP-seq
MIRT1038982	hsa-miR-892a	CLIP-seq
MIRT1038914	hsa-miR-1252	CLIP-seq
MIRT1038983	hsa-miR-1273e	CLIP-seq
MIRT1038984	hsa-miR-1275	CLIP-seq
MIRT1038915	hsa-miR-128	CLIP-seq
MIRT1038916	hsa-miR-1299	CLIP-seq
MIRT1038985	hsa-miR-1915	CLIP-seq
MIRT1038986	hsa-miR-2278	CLIP-seq
MIRT1038921	hsa-miR-2681	CLIP-seq
MIRT1038922	hsa-miR-27a	CLIP-seq
MIRT1038923	hsa-miR-27b	CLIP-seq
MIRT1038987	hsa-miR-299-3p	CLIP-seq
MIRT1038924	hsa-miR-3130-5p	CLIP-seq
MIRT1038988	hsa-miR-3151	CLIP-seq
MIRT1038928	hsa-miR-3180-5p	CLIP-seq
MIRT1038989	hsa-miR-3187-3p	CLIP-seq
MIRT1038935	hsa-miR-3545-5p	CLIP-seq
MIRT1038936	hsa-miR-3657	CLIP-seq
MIRT1038937	hsa-miR-3672	CLIP-seq
MIRT1038938	hsa-miR-3909	CLIP-seq
MIRT1038990	hsa-miR-3920	CLIP-seq
MIRT1038991	hsa-miR-3926	CLIP-seq
MIRT1038943	hsa-miR-4254	CLIP-seq
MIRT1038992	hsa-miR-4259	CLIP-seq
MIRT1038993	hsa-miR-4271	CLIP-seq
MIRT1038944	hsa-miR-4277	CLIP-seq
MIRT1038994	hsa-miR-4278	CLIP-seq
MIRT1038995	hsa-miR-4280	CLIP-seq
MIRT1038947	hsa-miR-4292	CLIP-seq
MIRT1038948	hsa-miR-4308	CLIP-seq
MIRT1038996	hsa-miR-4329	CLIP-seq
MIRT1038950	hsa-miR-4330	CLIP-seq
MIRT1038951	hsa-miR-4419a	CLIP-seq
MIRT1038997	hsa-miR-4425	CLIP-seq
MIRT1038998	hsa-miR-4435	CLIP-seq
MIRT1038999	hsa-miR-4447	CLIP-seq
MIRT1038953	hsa-miR-4460	CLIP-seq
MIRT1038954	hsa-miR-4468	CLIP-seq
MIRT1039000	hsa-miR-4472	CLIP-seq
MIRT1039001	hsa-miR-448	CLIP-seq
MIRT1039002	hsa-miR-4480	CLIP-seq
MIRT1038955	hsa-miR-4482	CLIP-seq
MIRT1038956	hsa-miR-4510	CLIP-seq
MIRT1039003	hsa-miR-4525	CLIP-seq
MIRT1038960	hsa-miR-4645-5p	CLIP-seq
MIRT1039004	hsa-miR-4651	CLIP-seq
MIRT1039005	hsa-miR-4652-5p	CLIP-seq
MIRT1039006	hsa-miR-4665-5p	CLIP-seq
MIRT1038963	hsa-miR-4669	CLIP-seq
MIRT1038964	hsa-miR-4673	CLIP-seq
MIRT1038965	hsa-miR-4683	CLIP-seq
MIRT1039007	hsa-miR-4685-5p	CLIP-seq
MIRT1038967	hsa-miR-4691-5p	CLIP-seq
MIRT1038969	hsa-miR-4695-3p	CLIP-seq
MIRT1039008	hsa-miR-4701-5p	CLIP-seq
MIRT1039009	hsa-miR-4723-5p	CLIP-seq
MIRT1039010	hsa-miR-4725-3p	CLIP-seq
MIRT1039011	hsa-miR-4777-5p	CLIP-seq
MIRT1039012	hsa-miR-4778-5p	CLIP-seq
MIRT1038973	hsa-miR-4782-5p	CLIP-seq
MIRT1038974	hsa-miR-4786-3p	CLIP-seq
MIRT1039013	hsa-miR-491-3p	CLIP-seq
MIRT1039014	hsa-miR-491-5p	CLIP-seq
MIRT1039015	hsa-miR-508-5p	CLIP-seq
MIRT1038977	hsa-miR-513a-5p	CLIP-seq
MIRT1038978	hsa-miR-516b	CLIP-seq
MIRT1039016	hsa-miR-518d-5p	CLIP-seq
MIRT1039017	hsa-miR-519b-5p	CLIP-seq
MIRT1039018	hsa-miR-519c-5p	CLIP-seq
MIRT1038979	hsa-miR-520a-5p	CLIP-seq
MIRT1039019	hsa-miR-520c-5p	CLIP-seq
MIRT1039020	hsa-miR-520g	CLIP-seq
MIRT1039021	hsa-miR-520h	CLIP-seq
MIRT1038980	hsa-miR-525-5p	CLIP-seq
MIRT1039022	hsa-miR-526a	CLIP-seq
MIRT1039023	hsa-miR-548s	CLIP-seq
MIRT1039024	hsa-miR-586	CLIP-seq
MIRT1039025	hsa-miR-588	CLIP-seq
MIRT1039026	hsa-miR-608	CLIP-seq
MIRT1039027	hsa-miR-625	CLIP-seq
MIRT1038981	hsa-miR-670	CLIP-seq
MIRT1039028	hsa-miR-7	CLIP-seq
MIRT1038982	hsa-miR-892a	CLIP-seq
MIRT2008022	hsa-miR-1207-5p	CLIP-seq
MIRT2008023	hsa-miR-122	CLIP-seq
MIRT2008024	hsa-miR-1225-3p	CLIP-seq
MIRT1038914	hsa-miR-1252	CLIP-seq
MIRT1038984	hsa-miR-1275	CLIP-seq
MIRT2008025	hsa-miR-1286	CLIP-seq
MIRT1038916	hsa-miR-1299	CLIP-seq
MIRT1038917	hsa-miR-1343	CLIP-seq
MIRT2008026	hsa-miR-1470	CLIP-seq
MIRT1038918	hsa-miR-197	CLIP-seq
MIRT2008027	hsa-miR-203	CLIP-seq
MIRT2008028	hsa-miR-2110	CLIP-seq
MIRT2008029	hsa-miR-219-1-3p	CLIP-seq
MIRT1038986	hsa-miR-2278	CLIP-seq
MIRT2008030	hsa-miR-3135b	CLIP-seq
MIRT2008031	hsa-miR-3150a-3p	CLIP-seq
MIRT1038931	hsa-miR-320a	CLIP-seq
MIRT1038932	hsa-miR-320b	CLIP-seq
MIRT1038933	hsa-miR-320c	CLIP-seq
MIRT1038934	hsa-miR-320d	CLIP-seq
MIRT2008032	hsa-miR-3619-3p	CLIP-seq
MIRT1038936	hsa-miR-3657	CLIP-seq
MIRT2008033	hsa-miR-3659	CLIP-seq
MIRT1038937	hsa-miR-3672	CLIP-seq
MIRT2008034	hsa-miR-3691-5p	CLIP-seq
MIRT2008035	hsa-miR-3714	CLIP-seq
MIRT1038938	hsa-miR-3909	CLIP-seq
MIRT2008036	hsa-miR-3978	CLIP-seq
MIRT2008037	hsa-miR-4260	CLIP-seq
MIRT2008038	hsa-miR-4261	CLIP-seq
MIRT2008039	hsa-miR-4286	CLIP-seq
MIRT1038946	hsa-miR-4290	CLIP-seq
MIRT2008040	hsa-miR-4320	CLIP-seq
MIRT2008041	hsa-miR-4323	CLIP-seq
MIRT1038952	hsa-miR-4429	CLIP-seq
MIRT1038999	hsa-miR-4447	CLIP-seq
MIRT1038954	hsa-miR-4468	CLIP-seq
MIRT1039000	hsa-miR-4472	CLIP-seq
MIRT1039002	hsa-miR-4480	CLIP-seq
MIRT2008042	hsa-miR-4487	CLIP-seq
MIRT2008043	hsa-miR-4493	CLIP-seq
MIRT1039003	hsa-miR-4525	CLIP-seq
MIRT1038958	hsa-miR-4534	CLIP-seq
MIRT2008044	hsa-miR-4633-3p	CLIP-seq
MIRT1038960	hsa-miR-4645-5p	CLIP-seq
MIRT1039004	hsa-miR-4651	CLIP-seq
MIRT2008045	hsa-miR-4653-3p	CLIP-seq
MIRT1039006	hsa-miR-4665-5p	CLIP-seq
MIRT2008046	hsa-miR-4667-3p	CLIP-seq
MIRT1038963	hsa-miR-4669	CLIP-seq
MIRT1038964	hsa-miR-4673	CLIP-seq
MIRT2008047	hsa-miR-4686	CLIP-seq
MIRT1038967	hsa-miR-4691-5p	CLIP-seq
MIRT2008048	hsa-miR-4694-3p	CLIP-seq
MIRT2008049	hsa-miR-4706	CLIP-seq
MIRT1038970	hsa-miR-4713-3p	CLIP-seq
MIRT2008050	hsa-miR-4722-5p	CLIP-seq
MIRT1039009	hsa-miR-4723-5p	CLIP-seq
MIRT2008051	hsa-miR-4738-3p	CLIP-seq
MIRT2008052	hsa-miR-4749-5p	CLIP-seq
MIRT2008053	hsa-miR-4751	CLIP-seq
MIRT2008054	hsa-miR-4752	CLIP-seq
MIRT2008055	hsa-miR-4758-3p	CLIP-seq
MIRT2008056	hsa-miR-4763-3p	CLIP-seq
MIRT2008057	hsa-miR-4773	CLIP-seq
MIRT1038973	hsa-miR-4782-5p	CLIP-seq
MIRT1038975	hsa-miR-4802-5p	CLIP-seq
MIRT1038976	hsa-miR-5096	CLIP-seq
MIRT1038978	hsa-miR-516b	CLIP-seq
MIRT1039026	hsa-miR-608	CLIP-seq
MIRT1039027	hsa-miR-625	CLIP-seq
MIRT1039028	hsa-miR-7	CLIP-seq
MIRT2008058	hsa-miR-765	CLIP-seq
MIRT2008059	hsa-miR-873	CLIP-seq
MIRT2008060	hsa-miR-890	CLIP-seq
MIRT1038982	hsa-miR-892a	CLIP-seq
MIRT2008061	hsa-miR-940	CLIP-seq
MIRT1038916	hsa-miR-1299	CLIP-seq
MIRT2240722	hsa-miR-198	CLIP-seq
MIRT1038986	hsa-miR-2278	CLIP-seq
MIRT1038921	hsa-miR-2681	CLIP-seq
MIRT1038925	hsa-miR-3153	CLIP-seq
MIRT1038928	hsa-miR-3180-5p	CLIP-seq
MIRT2240723	hsa-miR-3663-5p	CLIP-seq
MIRT1038938	hsa-miR-3909	CLIP-seq
MIRT1038992	hsa-miR-4259	CLIP-seq
MIRT1038944	hsa-miR-4277	CLIP-seq
MIRT1038946	hsa-miR-4290	CLIP-seq
MIRT1038997	hsa-miR-4425	CLIP-seq
MIRT1038954	hsa-miR-4468	CLIP-seq
MIRT2240724	hsa-miR-4640-5p	CLIP-seq
MIRT2240725	hsa-miR-4661-3p	CLIP-seq
MIRT1038962	hsa-miR-4668-5p	CLIP-seq
MIRT2240726	hsa-miR-4726-5p	CLIP-seq
MIRT2008057	hsa-miR-4773	CLIP-seq
MIRT1038973	hsa-miR-4782-5p	CLIP-seq
MIRT1038974	hsa-miR-4786-3p	CLIP-seq
MIRT1038978	hsa-miR-516b	CLIP-seq
MIRT1038979	hsa-miR-520a-5p	CLIP-seq
MIRT1038980	hsa-miR-525-5p	CLIP-seq
MIRT2008061	hsa-miR-940	CLIP-seq
MIRT2008024	hsa-miR-1225-3p	CLIP-seq
MIRT1038914	hsa-miR-1252	CLIP-seq
MIRT1038983	hsa-miR-1273e	CLIP-seq
MIRT1038916	hsa-miR-1299	CLIP-seq
MIRT2544227	hsa-miR-1321	CLIP-seq
MIRT1038917	hsa-miR-1343	CLIP-seq
MIRT2008026	hsa-miR-1470	CLIP-seq
MIRT1038985	hsa-miR-1915	CLIP-seq
MIRT2008027	hsa-miR-203	CLIP-seq
MIRT2008029	hsa-miR-219-1-3p	CLIP-seq
MIRT1038927	hsa-miR-3176	CLIP-seq
MIRT1038989	hsa-miR-3187-3p	CLIP-seq
MIRT1038930	hsa-miR-3192	CLIP-seq
MIRT2008032	hsa-miR-3619-3p	CLIP-seq
MIRT1038936	hsa-miR-3657	CLIP-seq
MIRT1038937	hsa-miR-3672	CLIP-seq
MIRT1038938	hsa-miR-3909	CLIP-seq
MIRT2544228	hsa-miR-3919	CLIP-seq
MIRT1038990	hsa-miR-3920	CLIP-seq
MIRT1038939	hsa-miR-3922-3p	CLIP-seq
MIRT1038991	hsa-miR-3926	CLIP-seq
MIRT2544229	hsa-miR-4270	CLIP-seq
MIRT1038995	hsa-miR-4280	CLIP-seq
MIRT2008039	hsa-miR-4286	CLIP-seq
MIRT1038949	hsa-miR-4314	CLIP-seq
MIRT2008041	hsa-miR-4323	CLIP-seq
MIRT1038998	hsa-miR-4435	CLIP-seq
MIRT2544230	hsa-miR-4441	CLIP-seq
MIRT1038954	hsa-miR-4468	CLIP-seq
MIRT1039001	hsa-miR-448	CLIP-seq
MIRT1039002	hsa-miR-4480	CLIP-seq
MIRT1038957	hsa-miR-4514	CLIP-seq
MIRT1038958	hsa-miR-4534	CLIP-seq
MIRT1038960	hsa-miR-4645-5p	CLIP-seq
MIRT1038961	hsa-miR-4646-5p	CLIP-seq
MIRT1039005	hsa-miR-4652-5p	CLIP-seq
MIRT2008045	hsa-miR-4653-3p	CLIP-seq
MIRT2008046	hsa-miR-4667-3p	CLIP-seq
MIRT1038963	hsa-miR-4669	CLIP-seq
MIRT1038964	hsa-miR-4673	CLIP-seq
MIRT1039007	hsa-miR-4685-5p	CLIP-seq
MIRT1038967	hsa-miR-4691-5p	CLIP-seq
MIRT1038968	hsa-miR-4692	CLIP-seq
MIRT2008048	hsa-miR-4694-3p	CLIP-seq
MIRT1039008	hsa-miR-4701-5p	CLIP-seq
MIRT1038970	hsa-miR-4713-3p	CLIP-seq
MIRT2544231	hsa-miR-4721	CLIP-seq
MIRT2544232	hsa-miR-4728-5p	CLIP-seq
MIRT2544233	hsa-miR-4739	CLIP-seq
MIRT1038971	hsa-miR-4747-5p	CLIP-seq
MIRT2008053	hsa-miR-4751	CLIP-seq
MIRT2544234	hsa-miR-4755-3p	CLIP-seq
MIRT2544235	hsa-miR-4756-5p	CLIP-seq
MIRT1038972	hsa-miR-4757-5p	CLIP-seq
MIRT2008055	hsa-miR-4758-3p	CLIP-seq
MIRT2008057	hsa-miR-4773	CLIP-seq
MIRT1039012	hsa-miR-4778-5p	CLIP-seq
MIRT1038973	hsa-miR-4782-5p	CLIP-seq
MIRT1038975	hsa-miR-4802-5p	CLIP-seq
MIRT1039013	hsa-miR-491-3p	CLIP-seq
MIRT1039015	hsa-miR-508-5p	CLIP-seq
MIRT1038978	hsa-miR-516b	CLIP-seq
MIRT1039020	hsa-miR-520g	CLIP-seq
MIRT1039021	hsa-miR-520h	CLIP-seq
MIRT1039023	hsa-miR-548s	CLIP-seq
MIRT1039024	hsa-miR-586	CLIP-seq
MIRT1039025	hsa-miR-588	CLIP-seq
MIRT2008058	hsa-miR-765	CLIP-seq
MIRT1038982	hsa-miR-892a	CLIP-seq
MIRT1038914	hsa-miR-1252	CLIP-seq
MIRT1038983	hsa-miR-1273e	CLIP-seq
MIRT2544227	hsa-miR-1321	CLIP-seq
MIRT1038917	hsa-miR-1343	CLIP-seq
MIRT2008026	hsa-miR-1470	CLIP-seq
MIRT1038985	hsa-miR-1915	CLIP-seq
MIRT1038927	hsa-miR-3176	CLIP-seq
MIRT1038989	hsa-miR-3187-3p	CLIP-seq
MIRT1038930	hsa-miR-3192	CLIP-seq
MIRT1038936	hsa-miR-3657	CLIP-seq
MIRT1038937	hsa-miR-3672	CLIP-seq
MIRT1038938	hsa-miR-3909	CLIP-seq
MIRT1038939	hsa-miR-3922-3p	CLIP-seq
MIRT1038991	hsa-miR-3926	CLIP-seq
MIRT2544229	hsa-miR-4270	CLIP-seq
MIRT1038995	hsa-miR-4280	CLIP-seq
MIRT1038949	hsa-miR-4314	CLIP-seq
MIRT1038998	hsa-miR-4435	CLIP-seq
MIRT2544230	hsa-miR-4441	CLIP-seq
MIRT1038954	hsa-miR-4468	CLIP-seq
MIRT1039002	hsa-miR-4480	CLIP-seq
MIRT1038957	hsa-miR-4514	CLIP-seq
MIRT1038958	hsa-miR-4534	CLIP-seq
MIRT1038960	hsa-miR-4645-5p	CLIP-seq
MIRT1038961	hsa-miR-4646-5p	CLIP-seq
MIRT1039005	hsa-miR-4652-5p	CLIP-seq
MIRT2008046	hsa-miR-4667-3p	CLIP-seq
MIRT1038963	hsa-miR-4669	CLIP-seq
MIRT1038964	hsa-miR-4673	CLIP-seq
MIRT1039007	hsa-miR-4685-5p	CLIP-seq
MIRT1038967	hsa-miR-4691-5p	CLIP-seq
MIRT1038968	hsa-miR-4692	CLIP-seq
MIRT1039008	hsa-miR-4701-5p	CLIP-seq
MIRT1038970	hsa-miR-4713-3p	CLIP-seq
MIRT2544231	hsa-miR-4721	CLIP-seq
MIRT2544232	hsa-miR-4728-5p	CLIP-seq
MIRT2544233	hsa-miR-4739	CLIP-seq
MIRT1038971	hsa-miR-4747-5p	CLIP-seq
MIRT2544234	hsa-miR-4755-3p	CLIP-seq
MIRT2544235	hsa-miR-4756-5p	CLIP-seq
MIRT1038972	hsa-miR-4757-5p	CLIP-seq
MIRT2008057	hsa-miR-4773	CLIP-seq
MIRT1038975	hsa-miR-4802-5p	CLIP-seq
MIRT1039015	hsa-miR-508-5p	CLIP-seq
MIRT1039020	hsa-miR-520g	CLIP-seq
MIRT1039021	hsa-miR-520h	CLIP-seq
MIRT1039023	hsa-miR-548s	CLIP-seq
MIRT1039025	hsa-miR-588	CLIP-seq
MIRT1038982	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	EXP	19699667
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IBA
GO:0004373	Function	Alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity	IEA
GO:0005515	Function	Protein binding	IPI	10481074, 16189514, 16282323, 17055998, 24165324, 25416956, 28330616, 28514442, 32296183, 33961781, 35271311
GO:0005536	Function	D-glucose binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	IBA
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	TAS
GO:0007507	Process	Heart development	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016234	Component	Inclusion body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0061547	Function	Glycogen synthase activity, transferring glucose-1-phosphate	EXP	21356517
GO:0061547	Function	Glycogen synthase activity, transferring glucose-1-phosphate	IEA

Other IDs

• MIM: 138570
• HGNC: 4706
• e!Ensembl: ENSG00000104812

Protein

• UniProt ID: P13807
• Protein name: Glycogen [starch] synthase, muscle (EC 2.4.1.11) (Glycogen synthase 1)
• Protein function: Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context,
• PDB: 7Q0B, 7Q0S, 7Q12, 7Q13, 7ZBN, 8CVX, 8CVY, 8CVZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05693	Glycogen_syn	31 → 663	Glycogen synthase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in skeletal muscle and most other cell types where glycogen is present. {ECO:0000305|PubMed:2493642}.
• Sequence:

  MPLNRTLSMSSLPGLEDWEDEFDLENAVLFEVAWEVANKVGGIYTVLQTKAKVTGDEWGD
  NYFLVGPYTEQGVRTQVELLEAPTPALKRTLDSMNSKGCKVYFGRWLIEGGPLVVLLDVG
  ASAWALERWKGELWDTCNIGVPWYDREANDAVLFGFLTTWFLGEFLAQSEEKPHVVAHFH
  EWLAGVGLCLCRARRLPVATIFTTHATLLGRYLCAGAVDFYNNLENFNVDKEAGERQIYH
  RYCMERAAAHCAHVFTTVSQITAIEAQHLLKRKPDIVTPNGLNVKKFSAMHEFQNLHAQS
  KARIQEFVRGHFYGHLDFNLDKTLYFFIAGRYEFSNKGADVFLEALARLNYLLRVNGSEQ
  TVVAFFIMPARTNNFNVETLKGQAVRKQLWDTANTVKEKFGRKLYESLLVGSLPDMNKML
  DKEDFTMMKRAIFATQRQSFPPVCTHNMLDDSSDPILTTIRRIGLFNSSADRVKVIFHPE
  FLSSTSPLLPVDYEEFVRGCHLGVFPSYYEPWGYTPAECTVMGIPSISTNLSGFGCFMEE
  HIADPSAYGIYILDRRFRSLDDSCSQLTSFLYSFCQQSRRQRIIQRNRTERLSDLLDWKY
  LGRYYMSARHMALSKAFPEHFTYEPNEADAAQGYRYPRPASVPPSPSLSRHSSPHQSEDE
  EDPRNGPLEEDGERYDEDEEAAKDRRNIRAPEWPRRASCTSSTSGSKRNSVDTATSSSLS
  TPSEPLSPTSSLGEERN

• Sequence length: 737

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways
PI3K-Akt signaling pathway
AMPK signaling pathway
Insulin signaling pathway
Glucagon signaling pathway
Insulin resistance
Diabetic cardiomyopathy

Reactome:

Glycogen synthesis
Myoclonic epilepsy of Lafora
Glycogen storage disease type XV (GYG1)
Glycogen storage disease type 0 (muscle GYS1)

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
Glycogen storage disease	Likely pathogenic	rs2038778316	RCV004018321	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Pathogenic; Likely pathogenic	rs2122461010, rs2122509752, rs1345327745, rs587777375, rs2122520177, rs2122509664, rs1225603414, rs2122525708, rs2122525139, rs1362360554, rs776493768, rs772991517, rs756802243, rs1331157104, rs1382122523, rs370779569, rs2513716650, rs1269744178, rs2513710502, rs121434584, rs1422043936, rs1568619900, rs561646250, rs111911126, rs755305465, rs1219432457, rs1269675538	RCV001726515 RCV001387411 RCV001380900 RCV000116203 RCV001959493 RCV001944447 RCV001931510 RCV002018333 RCV001944013 RCV003050548 RCV003076877 RCV002592145 RCV003107195 RCV002667759 RCV002847439 RCV003629267 RCV003518054 RCV003517798 RCV003630404 RCV000017435 RCV001050632 RCV000687007 RCV000691851 RCV001060829 RCV001061520 RCV001210383 RCV001240293	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GYS1-related disorder	Likely pathogenic	rs2513729083	RCV003412397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE 0, MUSCLE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	39321955	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30100905		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	30100905	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30100905	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	19699667		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	17356695	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37816729	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28290602		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	35926094	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28290602		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17356695	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	9267990		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10447527, 10770201, 12411100, 12870167, 17356695, 7913686, 8721777, 9267990, 9389424		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease 0, Muscle	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	17928598, 21958591, 24579562		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease 0, Muscle	Glycogen Storage Disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease 0, Muscle	Glycogen Storage Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease 0, Muscle	Glycogen Storage Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease due to muscle and heart glycogen synthase deficiency	Glycogen Storage Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Huntington Disease	Huntington Disease	BEFREE	23094041		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10770201, 12411100, 29532970		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	10770201		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10447527		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	9361698		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30100905	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30867055	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17356695	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	10447527, 11110507, 17356695		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	19362737	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	25487600		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17356695		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	17356695	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	27476720, 27592162		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30100905		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only