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Description for Protein PHKA1

phosphorylase kinase, alpha 1 (muscle)
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K07190
KEGG - Pathway(s):
hsa04020; hsa04910
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Phosphorylase kinase, alpha 1; Phosphorylase kinase alpha M subunit; Phosphorylase kinase, alpha 1 (muscle); Phosphorylase kinase, muscle, alpha polypeptide; Phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis; PHKA
Approved Symbol:
PHKA1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 16
Human (de-) phosphorylation sites: 16; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 1
Human phosphorylation targets: 1; Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Muscle glycogenosis, X-linked(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02415 Entrez Gene ID: 5255 OMIM ID: 311870 Swissprot Accession: P46020;