PYGL


Summary: This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:613741
PHARMGKB IDPA34068
Map Location14q22.1

Gene Categories:

DRUGGABLE GENOME

GO terms in PYGL


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Term Type
Evidence Type
GO Term ID
GO Des.
CC TAS GO:0005576 extracellular region
CC IBA GO:0005737 cytoplasm
CC TAS GO:0005829 cytosol
CC TAS GO:0034774 secretory granule lumen
CC HDA GO:0070062 extracellular exosome
CC TAS GO:1904813 ficolin-1-rich granule lumen
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Gene expression in normal tissue: PYGL

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 2

Gene-drug pathway distribution

ERK MAPK signaling1

Pathways in PYGL


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Database
Pathway ID
Pathway Des.
reactome R-HSA-1430728 Metabolism
reactome R-HSA-168249 Innate Immune System
reactome R-HSA-168256 Immune System
reactome R-HSA-6798695 Neutrophil degranulation
reactome R-HSA-70221 Glycogen breakdown (glycogenolysis)
reactome R-HSA-71387 Metabolism of carbohydrates
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD353 PD0325901 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in PYGL

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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