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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000293 Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001031835 Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005255983 PREDICTED: Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005255984 PREDICTED: Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Related Services

Gene Symbol PHKB
Entrez Gene ID 5257
Full Name phosphorylase kinase, beta
Synonyms
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
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 ORF Sequence $1500.00
NM_001031835, 169808424 NP_001027005, 73611906 phosphorylase b kinase regulatory subunit beta isoform b ORF Sequence $1500.00
XM_005255983, 578828992 XP_005256040, 530423974 phosphorylase b kinase regulatory subunit beta isoform X1 ORF Sequence $1500.00
XM_005255984, 578828993 XP_005256041, 530423976 phosphorylase b kinase regulatory subunit beta isoform X2 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)PHKBNP_000284.1
Pan troglodytes (chimpanzee)PHKBXP_001162360.1
Macaca mulatta (Rhesus monkey)PHKBXP_001113858.1
Canis lupus familiaris (dog)PHKBXP_005617652.1
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)phkbXP_698197.5
Drosophila melanogaster (fruit fly)CG8475NP_001260230.1
Caenorhabditis elegansY67D8A.2NP_741355.3
Xenopus (Silurana) tropicalis (western clawed frog)phkbXP_004914116.1
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 phosphorylationIEA
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0005886plasma membraneIEA
GO:0005964phosphorylase kinase complexIEA
Function
IDNameEvidence
GO:0004553hydrolase activity, hydrolyzing O-glycosyl compoundsIEA
GO:0004689phosphorylase kinase activityIEA
GO:0005515protein bindingIPI
GO:0005516calmodulin bindingIEA
GeneCards PHKB
UniProt Q93100
Vega OTTHUMG00000133102
MIM 172490
Ensembl ENSG00000102893
HGNC 8927
HPRD 01407

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

What is the normal function of the PHKB gene?

The PHKB gene provides instructions for making one piece, the beta subunit, of the phosphorylase b kinase enzyme. This enzyme is made up of 16 subunits, four each of the alpha, beta, gamma, and delta subunits. (Each subunit is produced from a different gene.) The beta subunit helps regulate the activity of phosphorylase b kinase. This enzyme is found in various tissues, although it is most abundant in the liver and muscles. One version of the enzyme is found in liver cells and another in muscle cells. The beta subunit produced from the PHKB gene is part of the enzyme found both in the liver and in muscle.

Phosphorylase b kinase plays an important role in providing energy for cells. The main source of cellular energy is a simple sugar called glucose. Glucose is stored in muscle and liver cells in a form called glycogen. Glycogen can be broken down rapidly when glucose is needed, for instance during exercise. Phosphorylase b kinase turns on (activates) another enzyme called glycogen phosphorylase b by converting it to the more active form, glycogen phosphorylase a. When active, this enzyme breaks down glycogen.

Interactant

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