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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| glycogen synthase 1 | MIM:138570 | Ensembl:ENSG00000104812 | HGNC:HGNC:4706 | PA29084 | 19q13.33 |
GO terms in GYS1
| 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 |
| MF | IBA | GO:0019901 | protein kinase binding |
| MF | IPI | GO:0019901 | protein kinase binding |
| MF | EXP | GO:0061547 | glycogen synthase activity, transferring glucose-1-phosphate |
| MF | IBA | GO:0061547 | glycogen synthase activity, transferring glucose-1-phosphate |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | HDA | GO:0016020 | membrane |
| CC | IEA | GO:0016234 | inclusion body |
| BP | IBA | GO:0005978 | glycogen biosynthetic process |
| BP | IDA | GO:0005978 | glycogen biosynthetic process |
| BP | IEA | GO:0005978 | glycogen biosynthetic process |
| BP | TAS | GO:0005978 | glycogen biosynthetic process |
| BP | IEA | GO:0007507 | heart development |
| BP | IBA | GO:0009744 | response to sucrose |
| BP | IBA | GO:0009749 | response to glucose |
Gene expression in normal tissue: GYS1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GYS1
| 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) |
| reactome | R-HSA-3828062 | Glycogen storage disease type 0 (muscle GYS1) |
| reactome | R-HSA-5663084 | Diseases of carbohydrate metabolism |
| reactome | R-HSA-5668914 | Diseases of metabolism |
| reactome | R-HSA-71387 | Metabolism of carbohydrates |
| reactome | R-HSA-8982491 | Glycogen metabolism |
| kegg | hsa00500 | Starch and sucrose metabolism - Homo sapiens (human) |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04152 | AMPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04910 | Insulin signaling pathway - Homo sapiens (human) |
| kegg | hsa04922 | Glucagon signaling pathway - Homo sapiens (human) |
| kegg | hsa04931 | Insulin resistance - Homo sapiens (human) |
| pid | insulin_glucose_pathway | Insulin-mediated glucose transport |
| netpath | Pathway_KitReceptor | KitReceptor |
| humancyc | PWY-5067 | glycogen biosynthesis |
| wikipathways | WP1403 | AMP-activated Protein Kinase (AMPK) Signaling |
| wikipathways | WP2003 | miR-targeted genes in leukocytes - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2006 | miR-targeted genes in squamous cell - TarBase |
| wikipathways | WP3915 | Angiopoietin Like Protein 8 Regulatory Pathway |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP481 | Insulin Signaling |
| wikipathways | WP500 | Glycogen Metabolism |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GYS1
CLASSFICATION
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