InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHKA2

Summary

InnateDB Protein

IDBP-49023.5

Last Modified

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

Gene Symbol

PHKA2

Protein Name

phosphorylase kinase, alpha 2 (liver)

Synonyms

GSD9A; PHK; PYK; PYKL; XLG; XLG2;

Species

Homo sapiens

Ensembl Protein

ENSP00000369274

InnateDB Gene

IDBG-49021 (PHKA2)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

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

Disease Associations

Glycogen storage disease 9A (GSD9A) [MIM:306000]: A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest. {ECO:0000269PubMed:10330341, ECO:0000269PubMed:17689125, ECO:0000269PubMed:7549948, ECO:0000269PubMed:7847371, ECO:0000269PubMed:8733133, ECO:0000269PubMed:8733134, ECO:0000269PubMed:9600238}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in liver and other non-muscle tissues.

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	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
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:0005516	calmodulin binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0005976	polysaccharide metabolic process
GO:0005980	glycogen catabolic process
GO:0006006	glucose metabolic process
GO:0006091	generation of precursor metabolites and energy
GO:0006464	cellular protein modification process
GO:0006468	protein phosphorylation
GO:0044281	small molecule metabolic process