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Phosphorylase kinase, alpha 1 (muscle)
Identifiers
Symbols PHKA1; MGC132604; PHKA
External IDs OMIM311870 MGI97576 HomoloGene1981 GeneCards: PHKA1 Gene
Orthologs
Species Human Mouse
Entrez 5255 18679
Ensembl n/a ENSMUSG00000034055
UniProt n/a Q3TQJ0
RefSeq (mRNA) NM_002637 NM_008832
RefSeq (protein) NP_002628 NP_032858
Location (UCSC) n/a Chr X:
98.72 - 98.85 Mb
PubMed search [1] [2]

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKA1 gene.[1]

The PHKA1 gene encodes the alpha subunit of muscle phosphorylase kinase (EC 2.7.1.38), a key regulatory enzyme of glycogen metabolism. Phosphorylase kinase consists of 4 copies of an alpha-beta-gamma-delta tetramer. The alpha, beta (PHKB; MIM 172490), and gamma (PHKG1; MIM 172470 and PHKG2; MIM 172471) subunits have several isoforms; the delta subunit is calmodulin (CALM1; MIM 114180). PHKA2 (MIM 306000) encodes the alpha subunit of liver-specific phosphorylase kinase and is also located on the X chromosome.[supplied by OMIM][1]

References

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: D618–41. 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. PMID 1872871.  
  • Meyer HE, Meyer GF, Dirks H, Heilmeyer LM (1990). "Localization of phosphoserine residues in the alpha subunit of rabbit skeletal muscle phosphorylase kinase.". Eur. J. Biochem. 188 (2): 367–76. PMID 2108025.  
  • 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. PMID 2757032.  
  • Wehner M, Clemens PR, Engel AG, Kilimann MW (1995). "Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.". Hum. Mol. Genet. 3 (11): 1983–7. PMID 7874115.  
  • Wüllrich A, Hamacher C, Schneider A, Kilimann MW (1993). "The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.". J. Biol. Chem. 268 (31): 23208–14. PMID 8226841.  
  • 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. 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. 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. PMID 15489334.  
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