Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKA1gene.[5] It is the muscleisoform of Phosphorylase kinase (PhK).
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][5]
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.
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. doi:10.1111/j.1432-1033.1990.tb15413.x. 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. PMC1683359. 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. doi:10.1093/hmg/3.11.1983. 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. doi:10.1016/S0021-9258(19)49449-0. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. PMC2323967. 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. PMC528928. PMID 15489334.
External linksedit
GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX
phosphorylase, kinase, alpha, phosphorylase, kinase, regulatory, subunit, alpha, skeletal, muscle, isoform, enzyme, that, humans, encoded, phka1, gene, muscle, isoform, phosphorylase, kinase, phka1identifiersaliasesphka1, phka, phosphorylase, kinase, regulator. Phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform is an enzyme that in humans is encoded by the PHKA1 gene 5 It is the muscle isoform of Phosphorylase kinase PhK PHKA1IdentifiersAliasesPHKA1 PHKA Phosphorylase kinase alpha 1 phosphorylase kinase regulatory subunit alpha 1External IDsOMIM 311870 MGI 97576 HomoloGene 1981 GeneCards PHKA1Gene location Human Chr X chromosome human 1 BandXq13 1Start72 578 814 bp 1 End72 714 319 bp 1 Gene location Mouse Chr X chromosome mouse 2 BandX D X 45 47 cMStart101 557 581 bp 2 End101 687 852 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ingastrocnemius musclebiceps brachiivastus lateralis muscledeltoid muscletibialis anterior muscletriceps brachii muscleleft adrenal glandbody of tongueinternal globus pallidusislet of LangerhansTop expressed intriceps brachii musclevastus lateralis musclesternocleidomastoid muscletemporal muscletibialis anterior muscledigastric muscleextensor digitorum longus musclemasseter musclebody of femurintercostal muscleMore reference expression dataBioGPSn aGene ontologyMolecular functioncatalytic activity calmodulin binding phosphorylase kinase activityCellular componentcytosol plasma membrane membrane phosphorylase kinase complexBiological processglycogen metabolic process generation of precursor metabolites and energy protein phosphorylation carbohydrate metabolic process glycogen catabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez525518679EnsemblENSG00000067177ENSMUSG00000034055UniProtP46020P18826RefSeq mRNA NM 001122670NM 001172436NM 002637NM 008832NM 173021RefSeq protein NP 001116142NP 001165907NP 002628NP 032858NP 766609Location UCSC Chr X 72 58 72 71 MbChr X 101 56 101 69 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThe 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 5 A deficiency of this enzyme causes glycogen storage disease type IXd GSD 9D References edit a b c GRCh38 Ensembl release 89 ENSG00000067177 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000034055 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 a b Entrez Gene PHKA1 phosphorylase kinase alpha 1 muscle Further reading editBrushia 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 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 doi 10 1111 j 1432 1033 1990 tb15413 x 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 PMC 1683359 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 doi 10 1093 hmg 3 11 1983 PMID 7874115 Wullrich 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 doi 10 1016 S0021 9258 19 49449 0 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 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 External links editGeneReviews NCBI NIH UW entry on Phosphorylase Kinase Deficiency Glycogen Storage Disease Type IX Portal nbsp Biology nbsp This protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Phosphorylase kinase alpha 1 amp oldid 1136392790, wikipedia, wiki, book, books, library,
