- PHKA1
Phosphorylase kinase, alpha 1 (muscle), also known as PHKA1, is a human
gene .cite web | title = Entrez Gene: PHKA1 phosphorylase kinase, alpha 1 (muscle)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5255| accessdate = ]PBB_Summary
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summary_text = 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] cite web | title = Entrez Gene: PHKA1 phosphorylase kinase, alpha 1 (muscle)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5255| accessdate = ]References
Further reading
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citations =
*cite journal | author=Brushia RJ, Walsh DA |title=Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. |journal=Front. Biosci. |volume=4 |issue= |pages= D618–41 |year= 1999 |pmid= 10487978 |doi=
*cite journal | author=Daube H, Billich A, Mann K, Schramm HJ |title=Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease. |journal=Biochem. Biophys. Res. Commun. |volume=178 |issue= 3 |pages= 892–8 |year= 1991 |pmid= 1872871 |doi=
*cite journal | author=Meyer HE, Meyer GF, Dirks H, Heilmeyer LM |title=Localization of phosphoserine residues in the alpha subunit of rabbit skeletal muscle phosphorylase kinase. |journal=Eur. J. Biochem. |volume=188 |issue= 2 |pages= 367–76 |year= 1990 |pmid= 2108025 |doi=
*cite journal | author=Francke U, Darras BT, Zander NF, Kilimann MW |title=Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. |journal=Am. J. Hum. Genet. |volume=45 |issue= 2 |pages= 276–82 |year= 1989 |pmid= 2757032 |doi=
*cite journal | author=Wehner M, Clemens PR, Engel AG, Kilimann MW |title=Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. |journal=Hum. Mol. Genet. |volume=3 |issue= 11 |pages= 1983–7 |year= 1995 |pmid= 7874115 |doi=
*cite journal | author=Wüllrich A, Hamacher C, Schneider A, Kilimann MW |title=The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution. |journal=J. Biol. Chem. |volume=268 |issue= 31 |pages= 23208–14 |year= 1993 |pmid= 8226841 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Burwinkel B, Hu B, Schroers A, "et al." |title=Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. |journal=Eur. J. Hum. Genet. |volume=11 |issue= 7 |pages= 516–26 |year= 2004 |pmid= 12825073 |doi= 10.1038/sj.ejhg.5200996
*cite journal | author=Pallen MJ |title=Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase. |journal=Protein Sci. |volume=12 |issue= 8 |pages= 1804–7 |year= 2004 |pmid= 12876330 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504PBB_Controls
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