InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PHKA2

Summary

InnateDB Gene

IDBG-49021.6

Last Modified

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

Gene Symbol

PHKA2

Gene Name

phosphorylase kinase, alpha 2 (liver)

Synonyms

GSD9A; PHK; PYK; PYKL; XLG; XLG2

Species

Homo sapiens

Ensembl Gene

ENSG00000044446

Encoded Proteins

IDBP-49023

phosphorylase kinase, alpha 2 (liver)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are 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 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:18892300-18984598

Strand

Reverse strand

Band

p22.13

Transcripts

ENST00000379942	ENSP00000369274
ENST00000481718
ENST00000469485
ENST00000473597
ENST00000473739
ENST00000469645
ENST00000486231
ENST00000464455

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

Cellular Component

GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005964	phosphorylase kinase complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000031295

View Gene Order

ENSBTAG00000015355

Not yet available

Pathways

NETPATH

REACTOME

REACT_1008

Glycogen breakdown (glycogenolysis) pathway

REACT_200783

Myoclonic epilepsy of Lafora pathway

REACT_474

Metabolism of carbohydrates pathway

REACT_111217

Metabolism pathway

REACT_116125

Disease pathway

REACT_723

Glucose metabolism pathway

REACT_200833

Glycogen storage diseases pathway

KEGG

hsa04910

Insulin signaling pathway pathway

hsa04020

Calcium signaling pathway pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.54941

RefSeq

NM_000292 XM_006724496 XM_006724498

HUGO

OMIM

CCDS

CCDS14190

HPRD

02380

IMGT

EMBL

GenPept

RNA Seq Atlas