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gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alias
|
Glycogen synthase 1
Glycogen synthase muscle form
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:glycogen_storage_disease_type_0
|
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gptkbp:biologicalProcess
|
transferase activity
glycogen biosynthetic process
|
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gptkbp:cellularComponent
|
gptkb:cytoplasm
|
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gptkbp:encodes
|
glycogen synthase, muscle isoform
|
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gptkbp:Entrez_Gene_ID
|
ENSG00000104812
|
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gptkbp:expressedIn
|
gptkb:skeletal_muscle
|
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gptkbp:fullName
|
glycogen synthase 1 (muscle) gene
|
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gptkbp:function
|
catalyzes the rate-limiting step in glycogen biosynthesis
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gptkbp:HGNC_ID
|
4701
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GYS1
|
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gptkbp:length
|
737 amino acids
|
|
gptkbp:locatedOnChromosome
|
19q13.33
|
|
gptkbp:mutationAssociatedWith
|
muscle glycogen synthase deficiency
|
|
gptkbp:OMIM
|
138570
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse
right
|
|
gptkbp:regulates
|
regulated by phosphorylation
|
|
gptkbp:UniProtID
|
P13807
|
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gptkbp:bfsParent
|
gptkb:glycogen_synthase
gptkb:Glycogen_synthase
|
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gptkbp:bfsLayer
|
7
|