Gene table of GYS1 : glycogen synthase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GYS1	OMIM link	Number of associated genes	genes
611556	GLYCOGEN STORAGE DISEASE 0, MUSCLE	ClinVar, OMIM	link to OMIM	1	GYS1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Insulin signaling pathway	hsa04910	5.55
AMPK signaling pathway	hsa04152	5.8
Starch and sucrose metabolism	hsa00500	6.91
PI3K-Akt signaling pathway	hsa04151	4.21

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Glycogen storage diseases	R-HSA-3229121	9.52
Metabolism of carbohydrates	R-HSA-71387	4.93
Myoclonic epilepsy of Lafora	R-HSA-3785653	9.52
Diseases of carbohydrate metabolism	R-HSA-5663084	8.28
Diseases of metabolism	R-HSA-5668914	6.57
Glycogen synthesis	R-HSA-3322077	9.08
Metabolism	R-HSA-1430728	2.34
Disease	R-HSA-1643685	3.33
Glucose metabolism	R-HSA-70326	6.77

Associated GO terms for Molecular function

GO term	GO ID	GO IC
glucosyltransferase activity	GO:0046527	6.97
glycogen (starch) synthase activity	GO:0004373	9.05
transferase activity, transferring glycosyl groups	GO:0016757	4.08
catalytic activity	GO:0003824	1.05
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
UDP-glucosyltransferase activity	GO:0035251	7.54
carbohydrate binding	GO:0030246	4.17
enzyme binding	GO:0019899	2.27
protein kinase binding	GO:0019901	3.44
kinase binding	GO:0019900	3.32
transferase activity	GO:0016740	1.95
small molecule binding	GO:0036094	1.89
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
glycogen synthase activity, transferring glucose-1-phosphate	GO:0061547	9.05
transferase activity, transferring hexosyl groups	GO:0016758	4.43
glucose binding	GO:0005536	7.25
UDP-glycosyltransferase activity	GO:0008194	4.81
monosaccharide binding	GO:0048029	5.85