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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:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T | |
| DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
| DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
| DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
| DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N | |
| DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003546 | Exercise intolerance |
| HP:0003596 | Middle age onset |
| HP:0003621 | Juvenile onset |
| HP:0003652 | Recurrent myoglobinuria |
| HP:0003710 | Exercise-induced muscle cramps |
| HP:0003738 | Exercise-induced myalgia |
| HP:0005216 | Impaired mastication |
| HP:0008305 | Exercise-induced myoglobinuria |
| 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 |
|---|---|---|---|
| 115054186 | ECHNA44231 | ||
| 115058790 | ECHNA08937 | ||
| 115383473 | SALFA21537 | ||
| 115395314 | SALFA25694 | ||
| 105827378 | PROCO11977 | ||
| 856289 | SGD:S000006364 | ||
| 103738781 | NANGA22458 | ||
| 116437235 | CORMO16995 | ||
| 103250521 | CARSF29315 |
