Gene
phka1b
- ID
- ZDB-GENE-091204-81
- Name
- phosphorylase kinase, alpha 1b (muscle)
- Symbol
- phka1b Nomenclature History
- Previous Names
-
- si:dkey-22f5.10
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to contribute to phosphorylase kinase activity. Predicted to be involved in protein phosphorylation. Predicted to localize to phosphorylase kinase complex. 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
- 1 figure from Burkhalter et al., 2019
- 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:A0A8M9PJ81
|
701 | |||||
UniProtKB:A0A8M9PUY3
|
628 | |||||
UniProtKB:A0A286YBM7
|
1181 | |||||
UniProtKB:A0A8M9PRF2
|
600 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
phka1b-201
(1)
|
Ensembl | 3,251 nt | ||
mRNA |
phka1b-206
(1)
|
Ensembl | 3,644 nt | ||
ncRNA |
phka1b-002
(1)
|
Ensembl | 571 nt | ||
ncRNA |
phka1b-004
(1)
|
Ensembl | 766 nt | ||
ncRNA |
phka1b-005
(1)
|
Ensembl | 736 nt | ||
ncRNA |
phka1b-006
(1)
|
Ensembl | 222 nt |
Interactions and Pathways
No data available
Plasmids
No data available