Genomes and Genes
Gene Symbol: PHKB
Description: phosphorylase kinase regulatory subunit beta
Alias: phosphorylase b kinase regulatory subunit beta, phosphorylase kinase beta-subunit, phosphorylase kinase subunit beta, phosphorylase kinase, beta
- Beauchamp N, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, et al. Glycogen storage disease type IX: High variability in clinical phenotype. Mol Genet Metab. 2007;92:88-99 pubmed..The liver isoforms of the alpha-, beta- and gamma-subunits are encoded by PHKA2, PHKB and PHKG2, respectively. Mutation within these genes has been shown to result in GSD type IX...
- Francke U, Darras B, Zander N, Kilimann M. Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Am J Hum Genet. 1989;45:276-82 pubmed..In contrast, the beta subunit gene (PHKB) was found to be autosomal and was mapped to chromosome 16, region q12-q13 on the proximal long arm...
- Chou C, Hwang G, Hageman D, Han L, Agrawal P, Pisitkun T, et al. Identification of UT-A1 and AQP2 interacting proteins in rat inner medullary collecting duct. Am J Physiol Cell Physiol. 2017;:ajpcell.00082.2017 pubmed publisher..the UT-A1 list were those involved in post-translational modifications: phosphorylation (protein kinases Cdc42bpb, Phkb, Camk2d and Mtor), ubiquitylation/deubiquitylation (Uba1, Usp9x), and neddylation (Nae1 and Uba3)...
- Wang G, Shen W, Liu C, Liu Y, Wu T, Cui X, et al. Phosphorylase kinase ? affects colorectal cancer cell growth and represents a novel prognostic biomarker. J Cancer Res Clin Oncol. 2017;143:971-980 pubmed publisher..PHK? knockdown impaired proliferation of CRC in vitro and in vivo and induced cell cycle arrest. PHK? affects CRC cell growth and represents a novel prognostic biomarker. ..
- Terashima M, Fujita Y, Togashi Y, Sakai K, De Velasco M, Tomida S, et al. KIAA1199 interacts with glycogen phosphorylase kinase ?-subunit (PHKB) to promote glycogen breakdown and cancer cell survival. Oncotarget. 2014;5:7040-50 pubmed..A pull-down analysis showed that the glycogen phosphorylase kinase ?-subunit (PHKB) interacted with the C-terminal region of KIAA1199 protein...
- Pallen M. Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase. Protein Sci. 2003;12:1804-7 pubmed..If true, this would have important implications for the understanding, diagnosis, and management of glycogen storage diseases. There is thus a clear need to test this hypothesis through enzymatic assays and structural studies. ..
- Burwinkel B, Kilimann M. Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease. J Mol Biol. 1998;277:513-7 pubmed..event between two neighboring LINE-1 sequences in the human gene encoding the beta subunit of phosphorylase kinase (PHKB)...
- van den Berg I, van Beurden E, de Klerk J, van Diggelen O, Malingre H, Boer M, et al. Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB). Am J Hum Genet. 1997;61:539-46 pubmed..This implies that a defect in the sequence encoding the common part of the beta subunit of phosphorylase kinase may present as liver phosphorylase kinase deficiency. ..
- Ziegenhagen R, Jennissen H. Multiple ubiquitination of vertebrate calmodulin by reticulocyte lysate and inhibition of calmodulin conjugation by phosphorylase kinase. Biol Chem Hoppe Seyler. 1988;369:1317-24 pubmed
- Burwinkel B, Hu B, Schroers A, Clemens P, Moses S, Shin Y, et al. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Eur J Hum Genet. 2003;11:516-26 pubmed..The coding sequences of all six genes that contribute to Phk in muscle were analysed: PHKA1, PHKB, PHKG1, CALM1, CALM2 and CALM3...
- Shapiro L, Chatterjee S, Ramadan D, Davies K, Savage M, Metherell L, et al. Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. Eur J Endocrinol. 2017;177:485-501 pubmed publisher..WES also identified homozygous putative variants in FANCA and PHKB in 2 patients. Low height SDS and consanguinity were highly predictive for identifying a genetic defect...
- Baranowska Bosiacka I, Falkowska A, Gutowska I, Gassowska M, Kolasa Wołosiuk A, Tarnowski M, et al. Glycogen metabolism in brain and neurons - astrocytes metabolic cooperation can be altered by pre- and neonatal lead (Pb) exposure. Toxicology. 2017;390:146-158 pubmed publisher..PYGM, an isoform active in astrocytes; and PYGB, an isoform active in neurons) and phosphorylase kinase ? (PHKB)...
- Burwinkel B, Moses S, Kilimann M. Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB). Hum Genet. 1997;101:170-4 pubmed..TL coding sequences are normal, whereas he is compound-heterozygous for two mutations in the beta subunit gene, PHKB. The first is a splice-site mutation (IVS4 [-2A-->G]) causing the reading-frame-disrupting deletion of exon 5 in ..
- Daube H, Billich A, Mann K, Schramm H. Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease. Biochem Biophys Res Commun. 1991;178:892-8 pubmed..Here the cleavage occurs at phe65-pro66 and met71-met72. This fast hydrolysis of free calmodulin can be blocked by micromolar concentrations of Ca2+ or millimolar concentrations of Mg2+. ..