InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PHKA1

Summary

InnateDB Gene

IDBG-76852.6

Last Modified

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

Gene Symbol

PHKA1

Gene Name

phosphorylase kinase, alpha 1 (muscle)

Synonyms

PHKA

Species

Homo sapiens

Ensembl Gene

ENSG00000067177

Encoded Proteins

IDBP-76854

phosphorylase kinase, alpha 1 (muscle)

IDBP-76856

phosphorylase kinase, alpha 1 (muscle)

IDBP-76858

phosphorylase kinase, alpha 1 (muscle)

IDBP-76860

phosphorylase kinase, alpha 1 (muscle)

IDBP-599820

phosphorylase kinase, alpha 1 (muscle)

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 skeletal muscle 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 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:72578814-72714319

Strand

Reverse strand

Band

q13.1

Transcripts

ENST00000373545	ENSP00000362646
ENST00000373542	ENSP00000362643
ENST00000373539	ENSP00000362640
ENST00000339490	ENSP00000342469
ENST00000541944	ENSP00000441251

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	7 [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: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

Cellular Component

GO:0005829	cytosol
GO:0005886	plasma membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000034055

View Gene Order

ENSBTAG00000015848

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.201379

RefSeq

NM_001122670 NM_001172436 NM_002637

HUGO

OMIM

CCDS

CCDS14421 CCDS48137 CCDS55453

HPRD

02415

IMGT

EMBL

GenPept

RNA Seq Atlas