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PHKB (NM_001031835) - phosphorylase kinase regulatory subunit beta

Phosphorylase B Kinase Regulatory Subunit Beta Isoform B

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of PHKB protein. View all 2 isoforms
PHKB: phosphorylase b kinase regulatory subunit beta isoform b
Description:

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.[provided by RefSeq, Feb 2010].

Strand
+
Chromosome
16
Protein
1086 residues
All mutations
233
PTM sites
22
CDS
47,497,849 - 47,733,277
Transcription
47,495,209 - 47,735,434
11.6% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 5257
UniProt
Ensembl