Gene
phka1a
- ID
- ZDB-GENE-031118-56
- Name
- phosphorylase kinase, alpha 1a (muscle)
- Symbol
- phka1a Nomenclature History
- Previous Names
-
- phka1
- wu:fl37h01
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable calmodulin binding activity. Predicted to be involved in glycogen metabolic process. Predicted to act upstream of or within carbohydrate metabolic process. Predicted to be located in plasma membrane. Human ortholog(s) of this gene implicated in glycogen storage disease and glycogen storage disease IXd. Orthologous to human PHKA1 (phosphorylase kinase regulatory subunit alpha 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
glycogen storage disease IXd | Alliance | Muscle glycogenosis | 300559 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR011613 | GH15-like domain |
Domain | IPR045583 | Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain |
Family | IPR008734 | Phosphorylase kinase alpha/beta subunit |
Homologous_superfamily | IPR008928 | Six-hairpin glycosidase superfamily |
Homologous_superfamily | IPR012341 | Six-hairpin glycosidase-like superfamily |
Domain Details Per Protein
Protein | Length | GH15-like domain | Phosphorylase b kinase regulatory subunit alpha/beta, C-terminal domain | Phosphorylase kinase alpha/beta subunit | Six-hairpin glycosidase-like superfamily | Six-hairpin glycosidase superfamily |
---|---|---|---|---|---|---|
UniProtKB:A0A286YAZ5
|
1232 | |||||
UniProtKB:E7F4R5
|
1219 | |||||
UniProtKB:A0A8M6Z7W8
|
1201 |
Interactions and Pathways
No data available
Plasmids
No data available