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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
glycogen phosphorylase, muscle associated
Summary
- Gene Symbol
-
- PYGM
- Aliases
-
- GSD5
- McArdle syndrome
- glycogen phosphorylase, muscle form
- glycogen storage disease type V
- myophosphorylase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Allosteric enzyme
- Alternative splicing
- Disease variant
- Glycogen metabolism
- Glycogen storage disease
- Glycosyltransferase
- Nucleotide-binding
- Phosphoprotein
- Pyridoxal phosphate
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| P11217 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| glycogen metabolic process | ||
| glycogen catabolic process |
GO Hierarchy
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| linear malto-oligosaccharide phosphorylase activity | ||
| SHG alpha-glucan phosphorylase activity | ||
| pyridoxal phosphate binding | ||
| glycogen phosphorylase activity | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
| DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
| DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
| DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
| DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 | |
| DOID:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
| DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
| DOID:0111040 | glycogen storage disease IXd | |
| DOID:0111041 | glycogen storage disease IXb | |
| DOID:0111042 | glycogen storage disease IXa |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001324 | Muscle weakness |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001649 | Tachycardia |
| HP:0001919 | Acute kidney injury |
| HP:0002015 | Dysphagia |
| HP:0002149 | Hyperuricemia |
| HP:0002875 | Exertional dyspnea |
| HP:0002913 | Myoglobinuria |
| HP:0003201 | Rhabdomyolysis |
| Disease ID | Disease Name |
|---|---|
| OMIM:232600 |
|
| ORPHA:368 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 105989122 | DIPOR16797 | ||
| 100757350 | CRIGR20958 | ||
| 19309 | MGI:97830 | MOUSE25521 | |
| 24701 | RGD:3461 | RATNO19405 | |
| 100722429 | CAVPO15765 | ||
| 101587777 | OCTDE22288 | ||
| 101713354 | HETGA00816 | ||
| 100029115 | MONDO01024 | ||
| 102444403 | PELSI06029 | ||
| 113885899 | BOBOX00298 |
