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 |
|---|---|---|---|---|---|
| glycogen phosphorylase L | MIM:613741 | Ensembl:ENSG00000100504 | HGNC:HGNC:9725 | PA34068 | 14q22.1 |
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 |
| BP | IMP | GO:0005977 | glycogen metabolic process |
| BP | IBA | GO:0005980 | glycogen catabolic process |
| BP | TAS | GO:0005980 | glycogen catabolic process |
| BP | IEA | GO:0006015 | 5-phosphoribose 1-diphosphate biosynthetic process |
| BP | IMP | GO:0042593 | glucose homeostasis |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IEA | GO:0070266 | necroptotic process |
| MF | IDA | GO:0002060 | purine nucleobase binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | NAS | GO:0005536 | glucose binding |
| MF | IDA | GO:0008144 | drug binding |
| MF | EXP | GO:0008184 | glycogen phosphorylase activity |
| MF | IBA | GO:0008184 | glycogen phosphorylase activity |
| MF | IDA | GO:0008184 | glycogen phosphorylase activity |
| MF | IMP | GO:0008184 | glycogen phosphorylase activity |
| MF | IDA | GO:0016208 | AMP binding |
| MF | IDA | GO:0019842 | vitamin binding |
| MF | IBA | GO:0030170 | pyridoxal phosphate binding |
| MF | IDA | GO:0032052 | bile acid binding |
| MF | NAS | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0102250 | linear malto-oligosaccharide phosphorylase activity |
| MF | IEA | GO:0102499 | SHG alpha-glucan phosphorylase activity |
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 |
| reactome | R-HSA-8982491 | Glycogen metabolism |
| wikipathways | WP231 | TNF alpha Signaling Pathway |
| wikipathways | WP500 | Glycogen Metabolism |
| smpdb | SMP00058 | Starch and Sucrose Metabolism |
| smpdb | SMP00552 | Glycogen synthetase deficiency |
| smpdb | SMP00553 | Glycogenosis, Type III. Cori disease, Debrancher glycogenosis |
| smpdb | SMP00554 | Glycogenosis, Type IV. Amylopectinosis, Anderson disease |
| smpdb | SMP00555 | Glycogenosis, Type VI. Hers disease |
| smpdb | SMP00556 | Mucopolysaccharidosis VI. Sly syndrome |
| smpdb | SMP00557 | Sucrase-isomaltase deficiency |
| humancyc | PWY-5941 | glycogenolysis |
| kegg | hsa00500 | Starch and sucrose metabolism - Homo sapiens (human) |
| kegg | hsa04217 | Necroptosis - 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) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PYGL
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.