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
- 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