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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:613741 Ensembl IDEnsembl:ENSG00000100504 HGNC IDHGNC:HGNC:9725 PHARMGKB IDPA34068 Map Location14q22.1 |
Gene Categories:
DRUGGABLE GENOMEGO terms in PYGL
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 |
Gene expression in normal tissue: PYGL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PYGL
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot

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