PHKB

Protein-coding gene in the species Homo sapiens
PHKB
Identifiers
AliasesPHKB, phosphorylase kinase regulatory subunit beta
External IDsOMIM: 172490; MGI: 97578; HomoloGene: 247; GeneCards: PHKB; OMA:PHKB - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for PHKB
Genomic location for PHKB
Band16q12.1Start47,461,123 bp[1]
End47,701,523 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for PHKB
Genomic location for PHKB
Band8 C3|8 41.61 cMStart86,567,588 bp[2]
End86,788,005 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • vastus lateralis muscle

  • biceps brachii

  • muscle of leg

  • gastrocnemius muscle

  • sperm

  • skeletal muscle tissue

  • renal medulla

  • superior surface of tongue

  • rectum

  • synovial joint
Top expressed in
  • quadriceps femoris muscle

  • triceps brachii muscle

  • vastus lateralis muscle

  • gastrocnemius muscle

  • tibialis anterior muscle

  • sternocleidomastoid muscle

  • skeletal muscle tissue

  • temporal muscle

  • digastric muscle

  • intercostal 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
SpeciesHumanMouse
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 MbChr 8: 86.57 – 86.79 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102893 – Ensembl, May 2017
  2. ^ a b c 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. 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
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MAP2K
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