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PHKB phosphorylase kinase, beta [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000293 Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. ORF Sequence $1148.70
Peptide Services
Antibody Services
Protein Services
NM_001031835 Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 2, mRNA. ORF Sequence $1141.35
Peptide Services
Antibody Services
Protein Services


Gene Symbol PHKB
Entrez Gene ID 5257
Full Name phosphorylase kinase, beta
Synonyms DKFZp781E15103, FLJ41698
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

16

16q12-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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, 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 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010].
Disorder

MIM: 172490

Phosphorylase kinase deficiency of liver and muscle, autosomal

mRNA Protein Product Sequence Price Select
NM_000293, 169808423 NP_000284, 4505783 phosphorylase b kinase regulatory subunit beta isoform a Full Length $2470.95
ORF Sequence $1148.70
NM_001031835, 169808424 NP_001027005, 73611906 phosphorylase b kinase regulatory subunit beta isoform b Full Length $2521.35
ORF Sequence $1141.35
KEGG
hsa04910Insulin signaling pathway
hsa04020Calcium signaling pathway
WikiPathways
WP500Glycogen Metabolism
Reactome
REACT_1008Glycogen breakdown (glycogenolysis)
REACT_474Metabolism of carbohydrates
REACT_111217Metabolism
REACT_723Glucose metabolism
Homo sapiens (human)PHKBNP_000284.1
Pan troglodytes (chimpanzee)PHKBXP_001162360.1
Macaca mulatta (Rhesus monkey)PHKBXP_001113858.1
Canis lupus familiaris (dog)PHKBXP_863716.1
Bos taurus (cattle)PHKBXP_002694819.1
Mus musculus (house mouse)PhkbNP_955517.1
Rattus norvegicus (Norway rat)PhkbNP_001014174.1
Gallus gallus (chicken)PHKBNP_001007832.1
Danio rerio (zebrafish)LOC569706XP_698197.5
Drosophila melanogaster (fruit fly)CG8475NP_609189.2
Caenorhabditis elegansY67D8A.1NP_500304.3
GeneCards PHKB
UniProt Q93100
MIM 172490
Ensembl ENSG00000102893
HGNC 8927
HPRD 01407

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
phosphorylase b kinase regulatory subunit beta
Names
phosphorylase b kinase regulatory subunit beta
phosphorylase kinase beta-subunit
phosphorylase kinase subunit beta
NP_000284.1
NP_001027005.1

Interactant

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