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Gene: PHKA1 (phosphorylase kinase regulatory subunit alpha 1) Homo sapiens
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Symbol: PHKA1
Name: phosphorylase kinase regulatory subunit alpha 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: MGC132604; PHKA; phosphorylase b kinase alpha subunit; phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform; phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; phosphorylase kinase alpha M subunit; phosphorylase kinase, alpha 1 (muscle); phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis
Orthologs:
Mus musculus (house mouse) : Phka1 (phosphorylase kinase alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Phka1 (phosphorylase kinase regulatory subunit alpha 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Phka1 (phosphorylase kinase regulatory subunit alpha 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
Canis lupus familiaris (dog) : PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Phka1 (phosphorylase kinase regulatory subunit alpha 1)
Sus scrofa (pig) : PHKA1 (phosphorylase kinase regulatory subunit alpha 1)
more info ...
Related Pseudogenes: PHKA1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X72,578,814 - 72,714,181 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X71,798,664 - 71,934,029 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,717,203 - 71,850,612 (-)NCBINCBI36hg18NCBI36
Build 34X71,583,501 - 71,716,903NCBI
CeleraX72,141,887 - 72,277,747 (-)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX65,553,170 - 65,688,660 (-)NCBIHuRef
CHM1_1X71,691,651 - 71,827,294 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Sequence

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Additional Information

External Database Links
Nomenclature History
 
More on PHKA1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 733215
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.