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


RefSeq Accession Definition Services Price Order
NM_001122670 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 2, mRNA. ORF Sequence $1271.55
Peptide Services
Antibody Services
Protein Services
NM_001172436 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 3, mRNA. ORF Sequence $1209.60
Peptide Services
Antibody Services
Protein Services
NM_002637 Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. ORF Sequence $1285.20
Peptide Services
Antibody Services
Protein Services


Gene Symbol PHKA1
Entrez Gene ID 5255
Full Name phosphorylase kinase, alpha 1 (muscle)
Synonyms MGC132604, PHKA
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 Full Length $2762.10
ORF Sequence $1271.55
NM_001172436, 289176993 NP_001165907, 289176994 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 3 Full Length $2682.45
ORF Sequence $1209.60
NM_002637, 169881272 NP_002628, 169881273 phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 1 Full Length $2779.65
ORF Sequence $1285.20
KEGG
hsa04020Calcium signaling pathway
hsa04910Insulin signaling pathway
WikiPathways
WP500Glycogen Metabolism
Reactome
REACT_723Glucose metabolism
REACT_474Metabolism of carbohydrates
REACT_1008Glycogen breakdown (glycogenolysis)
REACT_111217Metabolism
Homo sapiens (human)PHKA1NP_002628.2
Pan troglodytes (chimpanzee)PHKA1XP_003317571.2
Macaca mulatta (Rhesus monkey)PHKA1XP_001094193.1
Canis lupus familiaris (dog)PHKA1XP_859262.1
Bos taurus (cattle)PHKA1XP_002700055.1
Mus musculus (house mouse)Phka1NP_032858.2
Rattus norvegicus (Norway rat)Phka1NP_072148.1
Gallus gallus (chicken)PHKA1XP_003641138.1
Danio rerio (zebrafish)phka1XP_001923412.1
Danio rerio (zebrafish)LOC562402XP_690880.3
GeneCards PHKA1
UniProt P46020
MIM 311870
Ensembl ENSG00000067177
HGNC 8925
HPRD 02415

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

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