BC033657
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
123,824 Da
NCBI Official Full Name
Homo sapiens phosphorylase kinase, beta, mRNA
NCBI Official Synonym Full Names
phosphorylase kinase regulatory subunit beta
NCBI Protein Information
phosphorylase b kinase regulatory subunit beta
UniProt Protein Name
Phosphorylase b kinase regulatory subunit beta
UniProt Synonym Gene Names
UniProt Entry Name
KPBB_HUMAN
NCBI Summary for PHKB
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 Comments for PHKB
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.
Protein type: Protein kinase, regulatory subunit
Chromosomal Location of Human Ortholog: 16q12-q13
Cellular Component: cytosol; phosphorylase kinase complex
Molecular Function: phosphorylase kinase activity; protein binding
Biological Process: generation of precursor metabolites and energy; glycogen catabolic process; glycogen metabolic process
Disease: Glycogen Storage Disease Ixb
Research Articles on PHKB
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Pathways associated with PHKB cdna clone
Diseases associated with PHKB cdna clone
Organs/Tissues associated with PHKB cdna clone
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