GYS1
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 spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:138570 Ensembl IDEnsembl:ENSG00000104812 HGNC IDHGNC:HGNC:4706 PHARMGKB IDPA29084 Map Location19q13.33 |
GO terms in GYS1
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | EXP | GO:0004373 | glycogen (starch) synthase activity |
MF | IBA | GO:0004373 | glycogen (starch) synthase activity |
MF | IDA | GO:0004373 | glycogen (starch) synthase activity |
MF | IPI | GO:0005515 | protein binding |
MF | IBA | GO:0005536 | glucose binding |
MF | IEA | GO:0005536 | glucose binding |
Gene expression in normal tissue: GYS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GYS1
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Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-1643685 | Disease |
reactome | R-HSA-3229121 | Glycogen storage diseases |
reactome | R-HSA-3322077 | Glycogen synthesis |
reactome | R-HSA-3785653 | Myoclonic epilepsy of Lafora |
reactome | R-HSA-3814836 | Glycogen storage disease type XV (GYG1) |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD646 | PHA-793887 | 1 |
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in GYS1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |