PHKA1

GENE INFORMATION

? »

Gene name

PHKA1 (HGNC Symbol)

Synonyms

PHKA

Description

Phosphorylase kinase, alpha 1 (muscle) (HGNC Symbol)

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]

Chromosome

X

Cytoband

q13.1

Chromosome location (bp)

71798664 - 71934167

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000067177 (version 75.37)

Entrez gene

5255

UniProt

P46020 (UniProt - Evidence at protein level)

neXtProt

NX_P46020

Antibodypedia

PHKA1 antibodies
 

PROTEIN VIEW

? »
 
 
 
PHKA1-001
 
PHKA1-002
 
PHKA1-003
 
PHKA1-201
 
PHKA1-202
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PHKA1-001 ENSP00000362643
ENST00000373542
P46020
Show all »
Show » Show » 1223 137.3 No 0
PHKA1-002 ENSP00000362646
ENST00000373545
A6NIT2
Show all »
Show » Show » 1181 132.6 No 0
PHKA1-003 ENSP00000362640
ENST00000373539
A6NMN0
Show all »
Show » Show » 1240 139.1 No 0
PHKA1-201 ENSP00000342469
ENST00000339490
P46020
Show all »
Show » Show » 1210 135.8 No 0
PHKA1-202 ENSP00000441251
ENST00000541944
P46020
Show all »
Show » Show » 1151 129.4 No 0