UniProt Protein Function: | PHKB: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation. Defects in PHKB are the cause of glycogen storage disease type 9B (GSD9B); also known as phosphorylase kinase deficiency of liver and muscle (PKD). GSD9B is a metabolic disorder characterized by hepathomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. Belongs to the phosphorylase b kinase regulatory chain family. 4 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Protein kinase, regulatory subunit Chromosomal Location of Human Ortholog: 16q12.1 Cellular Component: cytosol; phosphorylase kinase complex; plasma membrane Molecular Function:calmodulin binding; phosphorylase kinase activity; protein binding Biological Process: generation of precursor metabolites and energy; glycogen catabolic process; glycogen metabolic process; protein amino acid phosphorylation Disease: Glycogen Storage Disease Ixb |
NCBI 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.[provided by RefSeq, Feb 2010] |
UniProt Code: | Q93100 |
NCBI GenInfo Identifier: | 4505783 |
NCBI Gene ID: | 5257 |
NCBI Accession: | NP_000284.1 |
UniProt Secondary Accession: | Q93100,Q8N4T5, |
UniProt Related Accession: | Q93100 |
Molecular Weight: | 124 kDa |
NCBI Full Name: | phosphorylase b kinase regulatory subunit beta isoform a |
NCBI Synonym Full Names: | phosphorylase kinase regulatory subunit beta |
NCBI Official Symbol: | PHKB |
NCBI Protein Information: | phosphorylase b kinase regulatory subunit beta |
UniProt Protein Name: | Phosphorylase b kinase regulatory subunit beta |
UniProt Gene Name: | PHKB |