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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 enable calmodulin binding activity. Predicted to act upstream of or within glycogen metabolic process. Predicted to be located in plasma membrane. Predicted to be part of 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
Expression
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
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With phka1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
glycogen storage disease IXd Alliance Muscle glycogenosis 300559
Associated With phka1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR011613 GH15-like domain
Family IPR008734 Phosphorylase kinase alpha/beta subunit
Homologous_superfamily IPR008928 Six-hairpin glycosidase superfamily
Domain Details Per Protein
Protein Length GH15-like domain Phosphorylase kinase alpha/beta subunit Six-hairpin glycosidase superfamily
UniProtKB:A0A286YBM7 1181
UniProtKB:A0A0M3HEN7 1046
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations