PHKB

PHKB
Identifiers
Aliases	PHKB, phosphorylase kinase regulatory subunit beta
External IDs	OMIM: 172490; MGI: 97578; GeneCards: PHKB
Gene location (Human)
Chr.	Chromosome 16 (human)
End	47,701,523 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	86,788,005 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	5257
	102093
	ENSG00000102893
	ENSMUSG00000036879
	Q93100
	Q7TSH2
	NM_000293; NM_001031835; NM_001363837
	NM_199446; NM_001364411; NM_001364412
	NP_000284; NP_001027005; NP_001350766
NP_955517; NP_001351340; NP_001351341; NP_001390846; NP_001390847;
	NP_001390848; NP_001390849; NP_001390850
	Wikidata
View/Edit Human	View/Edit Mouse

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

References

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

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

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000102893 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: PHKB phosphorylase kinase, beta".

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

PHKB

References

Further reading

External links