PHKB phosphorylase kinase, beta [Homo sapiens (human)]
| 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. |
| Disorder | MIM: 172490 Phosphorylase kinase deficiency of liver and muscle, autosomal |
| mRNA | NM_000293, 169808423 |
| Protein | NP_000284, 4505783 |
| Product | phosphorylase b kinase regulatory subunit beta isoform a |
| RefSeq Status | REVIEWED |
| mRNA | NM_001031835, 169808424 |
| Protein | NP_001027005, 73611906 |
| Product | phosphorylase b kinase regulatory subunit beta isoform b |
| RefSeq Status | REVIEWED |
| hsa04020 | Calcium signaling pathway |
| hsa04910 | Insulin signaling pathway |
WikiPathways
| WP500 | Glycogen Metabolism |
Reactome
| REACT_723 | Glucose metabolism |
| REACT_474 | Metabolism of carbohydrates |
| REACT_1008 | Glycogen breakdown (glycogenolysis) |
| Homo sapiens (human) | PHKB | NP_000284.1 |
| Pan troglodytes (chimpanzee) | PHKB | XP_001162360.1 |
| Canis lupus familiaris (dog) | PHKB | XP_863716.1 |
| Bos taurus (cattle) | PHKB | XP_589182.4 |
| Mus musculus (house mouse) | Phkb | NP_955517.1 |
| Rattus norvegicus (Norway rat) | Phkb | NP_001014174.1 |
| Gallus gallus (chicken) | PHKB | NP_001007832.1 |
| Danio rerio (zebrafish) | LOC569706 | XP_698197.4 |
| Drosophila melanogaster (fruit fly) | CG8475 | NP_609189.2 |
| Caenorhabditis elegans | Y67D8A.1 | NP_500304.3 |
| ID | Name | Evidence |
| GO:0005975 | carbohydrate metabolic process | TAS |
| GO:0005976 | polysaccharide metabolic process | IEA |
| GO:0005977 | glycogen metabolic process | TAS |
| GO:0005980 | glycogen catabolic process | TAS |
| GO:0006006 | glucose metabolic process | TAS |
| GO:0006091 | generation of precursor metabolites and energy | TAS |
Component
| ID | Name | Evidence |
| GO:0005829 | cytosol | TAS |
| GO:0005886 | plasma membrane | IEA |
| GO:0005964 | phosphorylase kinase complex | IEA |
Function
| ID | Name | Evidence |
| GO:0003824 | catalytic activity | IEA |
| GO:0004339 | glucan 1,4-alpha-glucosidase activity | IEA |
| GO:0004689 | phosphorylase kinase activity | IEA |
| GO:0005516 | calmodulin binding | IEA |
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