PHKB

PHKB
Identifiers
Aliases	PHKB, phosphorylase kinase regulatory subunit beta
External IDs	OMIM: 172490; MGI: 97578; HomoloGene: 247; GeneCards: PHKB; OMA:PHKB - orthologs
Gene location (Human) Chr. Chromosome 16 (human) Band 16q12.1 Start 47,461,123 bp End 47,701,523 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8 C3|8 41.61 cM Start 86,567,588 bp End 86,788,005 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in vastus lateralis muscle biceps brachii muscle of leg gastrocnemius muscle sperm muscle of thigh skeletal muscle tissue renal medulla right adrenal cortex superior surface of tongue Top expressed in quadriceps femoris muscle triceps brachii muscle vastus lateralis muscle gastrocnemius muscle medial head of gastrocnemius muscle muscle of thigh tibialis anterior muscle sternocleidomastoid muscle skeletal muscle tissue temporal muscle More reference expression data BioGPS n/a
Gene ontology Molecular function phosphorylase kinase activity calmodulin binding catalytic activity protein binding Cellular component cytosol plasma membrane membrane phosphorylase kinase complex Biological process protein phosphorylation glycogen metabolic process generation of precursor metabolites and energy carbohydrate metabolic process glycogen catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5257 102093 Ensembl ENSG00000102893 ENSMUSG00000036879 UniProt Q93100 Q7TSH2 RefSeq (mRNA) NM_000293 NM_001031835 NM_001363837 NM_199446 NM_001364411 NM_001364412 RefSeq (protein) NP_000284 NP_001027005 NP_001350766 NP_955517 NP_001351340 NP_001351341 NP_001390846 NP_001390847 NP_001390848 NP_001390849 NP_001390850 Location (UCSC) Chr 16: 47.46 – 47.7 Mb Chr 8: 86.57 – 86.79 Mb PubMed search
Wikidata
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Phosphorylase b kinase regulatory subunit beta is an enzyme that in humans is encoded by the PHKB gene.

Further reading

• Brushia RJ, Walsh DA (1999). "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure". Front. Biosci. 4 (1–3): D618–41. doi:10.2741/Brushia. PMID 10487978.
• Daube H, Billich A, Mann K, Schramm HJ (1991). "Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease". Biochem. Biophys. Res. Commun. 178 (3): 892–8. Bibcode:1991BBRC..178..892D. doi:10.1016/0006-291X(91)90975-D. PMID 1872871.
• Francke U, Darras BT, Zander NF, Kilimann MW (1989). "Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13". Am. J. Hum. Genet. 45 (2): 276–82. PMC 1683359. PMID 2757032.
• Wüllrich-Schmoll A, Kilimann MW (1996). "Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB)". Eur. J. Biochem. 238 (2): 374–80. doi:10.1111/j.1432-1033.1996.0374z.x. PMID 8681948.
• Burwinkel B, Maichele AJ, Aagenaes O, et al. (1997). "Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB)". Hum. Mol. Genet. 6 (7): 1109–15. doi:10.1093/hmg/6.7.1109. PMID 9215682.
• van den Berg IE, van Beurden EA, de Klerk JB, et al. (1997). "Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB)". Am. J. Hum. Genet. 61 (3): 539–46. doi:10.1086/515502. PMC 1715950. PMID 9326319.
• Burwinkel B, Moses SW, Kilimann MW (1998). "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. 101 (2): 170–4. doi:10.1007/s004390050608. PMID 9402963. S2CID 27661807.
• Burwinkel B, Kilimann MW (1998). "Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease". J. Mol. Biol. 277 (3): 513–7. doi:10.1006/jmbi.1998.1641. PMID 9533876.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Burwinkel B, Hu B, Schroers A, et al. (2004). "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. 11 (7): 516–26. doi:10.1038/sj.ejhg.5200996. PMID 12825073.
• Pallen MJ (2004). "Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase". Protein Sci. 12 (8): 1804–7. doi:10.1110/ps.0371103. PMC 2323967. PMID 12876330.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

External links

• GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX