PHKA1

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. [provided by RefSeq, Feb 2010]

Description

Phosphorylase kinase regulatory subunit alpha 1

Tissue specificity

Group enriched (parathyroid gland, skeletal muscle, tongue)

Subcell location

Vesicles, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

X (72578814 - 72714319)

Ensembl ID

ENSG00000067177  (ver. 103.38)

Orthologs

Mouse Phka1: ENSMUSG00000034055

UniProt

P46020

neXtProt

NX_P46020

Human splice variants
Mouse splice variants

Protein structure