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Description for Protein PHKB

phosphorylase kinase, beta
2 total interacting proteins; 2 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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively. (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, beta polypeptide; Phosphorylase b kinase beta regulatory chain; Phosphorylase kinase, beta isoform b; Phosphorylase kinase, beta isoform a; Phosphorylase kinase, beta subunit
Approved Symbol:
PHKB
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 24
Human (de-) phosphorylation sites: 24; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01407 Entrez Gene ID: 5257 OMIM ID: 172490 Swissprot Accession: Q93100;