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Description for Protein PHKA2

phosphorylase kinase, alpha 2 (liver)
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 hepatic 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined. (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:
PHKA; PYKL; XLG; PHK; PYK; XLG2; Phosphorylase kinase alpha L subunit; PHKLA; ATP:phosphorylase-b phosphotransferase
Approved Symbol:
PHKA2
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 4
Human (de-) phosphorylation sites: 4; 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:

  • Liver glycogenosis, X-linked, type I(Pd);
  • Liver glycogenosis, X-linked, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02380 Entrez Gene ID: 5256 OMIM ID: 300798 Swissprot Accession: P46019;