Tbio PHKA1 Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform

Protein Summary

Description

Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin. 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]

Uniprot Accession IDs

• P46020
• B7ZL05
• B7ZL07
• Q2M3D7
• Phosphorylase kinase alpha M subunit

Gene Name

• PHKA1

Ensembl ID

• ENST00000339490
• ENSP00000342469
• ENSG00000067177
• ENST00000373542
• ENSP00000362643
• ENST00000541944
• ENSP00000441251

Symbol

• PHKA
• PHKA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.97
transcription factor perturbation	0.91
kinase	0.9
microRNA	0.84
histone modification site profile	0.74

Protein Classes

PANTHER Classes

Protein / Enzyme Modulator / Kinase Modulator / Kinase Activator / Phosphorylase B Kinase Regulatory Subunit Alpha, Skeletal Muscle Isoform

DTO Classes

Protein / Kinase / Protein Kinase / Phosphorylase B Kinase Regulatory Chain Family / Phosphorylase B Kinase Regulatory Subunit Alpha, Skeletal Muscle Isoform

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 47.35   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 95   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 47.35   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 95   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0