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PHKA1 phosphorylase kinase, alpha 1 (muscle) [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu16403 NM_001122670 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 2, mRNA. pcDNA3.1+-DYK In-stock 16 $1149.00
OHu16802 NM_001172436 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu17843 NM_002637 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu54173 XM_006724661 PREDICTED: Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu16403C NM_001122670 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 2, mRNA. Customized vector In-stock 16 $1149.00
OHu16802C NM_001172436 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 3, mRNA. Customized vector On-demand 25 $1699.00
OHu17843C NM_002637 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. Customized vector On-demand 25 $1699.00
OHu54173C XM_006724661 PREDICTED: Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant X1, mRNA. Customized vector On-demand 25 $1699.00

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Gene Symbol PHKA1
Entrez Gene ID 5255
Full Name phosphorylase kinase, alpha 1 (muscle)
Synonyms PHKA
General protein information
Preferred Names
phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
Names
phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
phosphorylase kinase alpha M subunit
phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis
phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform
NP_001116142.1
NP_001165907.1
NP_002628.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq12-q13

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].
Disorder

MIM: 311870

Muscle glycogenosis, 300559 (3)

mRNA Protein Product Sequence Price Select
NM_001122670, 169881274 NP_001116142, 169881275 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 2 ORF Sequence $999.00
NM_001172436, 289176993 NP_001165907, 289176994 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 3 ORF Sequence $1500.00
NM_002637, 169881272 NP_002628, 169881273 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 1 ORF Sequence $1500.00
XM_006724661, 578838396 XP_006724724, 578838397 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform X1 ORF Sequence $1500.00
KEGG
hsa04020Calcium signaling pathway
hsa04910Insulin signaling pathway
WikiPathways
WP500Glycogen Metabolism
Reactome
REACT_1008Glycogen breakdown (glycogenolysis)
REACT_474Metabolism of carbohydrates
REACT_723Glucose metabolism
REACT_111217Metabolism
REACT_116125Disease
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)PHKA1NP_002628.2
Pan troglodytes (chimpanzee)PHKA1XP_003317571.2
Macaca mulatta (Rhesus monkey)PHKA1XP_001094193.1
Canis lupus familiaris (dog)PHKA1XP_005641551.1
Bos taurus (cattle)PHKA1XP_005228049.1
Mus musculus (house mouse)Phka1NP_032858.2
Rattus norvegicus (Norway rat)Phka1NP_072148.1
Gallus gallus (chicken)PHKA1XP_004940655.1
Danio rerio (zebrafish)phka1XP_005166575.1
Danio rerio (zebrafish)si:dkey-22f5.10XP_690880.4
Xenopus (Silurana) tropicalis (western clawed frog)phka1NP_001121510.1
Process
IDNameEvidence
GO:0005975carbohydrate metabolic processTAS
GO:0005977glycogen metabolic processTAS
GO:0005980glycogen catabolic processTAS
GO:0006006glucose metabolic processTAS
GO:0006091generation of precursor metabolites and energyTAS
GO:0006468protein phosphorylationTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0005886plasma membraneIEA
Function
IDNameEvidence
GO:0004553hydrolase activity, hydrolyzing O-glycosyl compoundsIEA
GO:0004689phosphorylase kinase activityTAS
GO:0005516calmodulin bindingIEA
GeneCards PHKA1
UniProt P46020
Vega OTTHUMG00000022696
MIM 311870
Ensembl ENSG00000067177
HGNC 8925
HPRD 02415

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