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
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
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Gene expression in normal tissue: GYS1

Gene-model tissue-cancer distribution: Bubble Plot

PANCREAtissue: PANCREA cancer: PANCREAS model num: 0PANCREAStissue: PANCREAS cancer: undefined model num: 1

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)
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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
No matching records found

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