InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHKB

Summary

InnateDB Protein

IDBP-29597.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHKB

Protein Name

phosphorylase kinase, beta

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000313504

InnateDB Gene

IDBG-29595 (PHKB)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}.

Disease Associations

Glycogen storage disease 9B (GSD9B) [MIM:261750]: A metabolic disorder characterized by hepatomegaly, 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. {ECO:0000269PubMed:9402963}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.

Experimentally validated
Total	14 [view]
Protein-Protein	11 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004689	phosphorylase kinase activity
GO:0005515	protein binding
GO:0005516	calmodulin binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0005976	polysaccharide metabolic process
GO:0005977	glycogen metabolic process
GO:0005980	glycogen catabolic process
GO:0006006	glucose metabolic process
GO:0006091	generation of precursor metabolites and energy
GO:0006468	protein phosphorylation
GO:0044281	small molecule metabolic process