PHKB

Phosphorylase b kinase regulatory subunit beta is an enzyme that in humans is encoded by the PHKB gene.[5]

PHKB
Identifiers
Aliases	PHKB, phosphorylase kinase regulatory subunit beta
External IDs	OMIM: 172490 MGI: 97578 HomoloGene: 247 GeneCards: PHKB
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q12.1 Start 47,461,123 bp[1] End 47,701,523 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 C3|8 41.61 cM Start 85,840,959 bp[2] End 86,061,376 bp[2]
Gene ontology Molecular function • phosphorylase kinase activity • calmodulin binding • catalytic activity • GO:0001948 protein binding Cellular component • cytosol • cell 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
Location (UCSC)	Chr 16: 47.46 – 47.7 Mb	Chr 8: 85.84 – 86.06 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000102893 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036879 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: PHKB phosphorylase kinase, beta".

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. 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.
• 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. 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. doi:10.1038/nature04209. PMID 16189514.

External links

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