PHKG1 explained

Phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKG1 gene.^{[1] [2]}

This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12.^[2]

Further reading

• Jones TA . Localisation of the gene encoding the catalytic gamma subunit of phosphorylase kinase to human chromosome bands 7p12-q21 . Biochim. Biophys. Acta . 1048 . 1 . 24–9 . 1990 . 2297530 . 10.1016/0167-4781(90)90017-V. vanc. da Cruz e Silva EF . Spurr NK . 3 . Sheer . D . Cohen . PT .
• Harris WR . Purification and characterization of catalytic fragments of phosphorylase kinase gamma subunit missing a calmodulin-binding domain . J. Biol. Chem. . 265 . 20 . 11740–5 . 1990 . 2365696 . vanc. Malencik DA . Johnson CM . 3 . Carr . SA . Roberts . GD . Byles . CA . Anderson . SR . Heilmeyer Jr . LM . Fischer . EH . 10.1016/S0021-9258(19)38460-1 . free .
• Dasgupta M, Honeycutt T, Blumenthal DK . The gamma-subunit of skeletal muscle phosphorylase kinase contains two noncontiguous domains that act in concert to bind calmodulin . J. Biol. Chem. . 264 . 29 . 17156–63 . 1989 . 10.1016/S0021-9258(18)71472-5 . 2507540 . free .
• Drewes G . Microtubule-associated protein/microtubule affinity-regulating kinase (p110mark). A novel protein kinase that regulates tau-microtubule interactions and dynamic instability by phosphorylation at the Alzheimer-specific site serine 262 . J. Biol. Chem. . 270 . 13 . 7679–88 . 1995 . 7706316 . 10.1074/jbc.270.13.7679 . vanc. Trinczek B . Illenberger S . 3 . Biernat . J . Schmitt-Ulms . G . Meyer . HE . Mandelkow . EM . Mandelkow . E. 2039456 . free .
• Wehner M, Clemens PR, Engel AG, Kilimann MW . 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 . 1995 . 7874115 . 10.1093/hmg/3.11.1983.
• Yuan CJ, Huang CY, Graves DJ . Oxidation and site-directed mutagenesis of the sulfhydryl groups of a truncated gamma catalytic subunit of phosphorylase kinase. Functional and structural effects . J. Biol. Chem. . 269 . 39 . 24367–73 . 1994 . 10.1016/S0021-9258(19)51092-4 . 7929096 . free .
• Malencik DA, Zhao Z, Anderson SR . Preparation and functional characterization of a catalytically active fragment of phosphorylase kinase . Mol. Cell. Biochem. . 127-128 . 31–43 . 1994 . 7935360 . 10.1007/BF01076755 . 6202717 .
• Steiner RF, Juminaga D, Albaugh S, Washington H . A comparison of the properties of the binary and ternary complexes formed by calmodulin and troponin C with two regulatory peptides of phosphorylase kinase . Biophys. Chem. . 59 . 3 . 277–88 . 1996 . 8672716 . 10.1016/0301-4622(95)00125-5 .
• Paudel HK . The regulatory Ser262 of microtubule-associated protein tau is phosphorylated by phosphorylase kinase . J. Biol. Chem. . 272 . 3 . 1777–85 . 1997 . 8999860 . 10.1016/S0021-9258(19)67481-8 . free .
• Lowe ED . The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition . EMBO J. . 16 . 22 . 6646–58 . 1998 . 9362479 . 10.1093/emboj/16.22.6646 . 1170269 . vanc. Noble ME . Skamnaki VT . 3 . Oikonomakos . NG . Owen . DJ . Johnson . LN .
• Sengupta A . Phosphorylation of tau at both Thr 231 and Ser 262 is required for maximal inhibition of its binding to microtubules . Arch. Biochem. Biophys. . 357 . 2 . 299–309 . 1998 . 9735171 . 10.1006/abbi.1998.0813 . vanc. Kabat J . Novak M . 3 . Wu . Q . Grundke-Iqbal . I . Iqbal . K .
• Wang JZ . Tau is phosphorylated by GSK-3 at several sites found in Alzheimer disease and its biological activity markedly inhibited only after it is prephosphorylated by A-kinase . FEBS Lett. . 436 . 1 . 28–34 . 1998 . 9771888 . 10.1016/S0014-5793(98)01090-4 . vanc. Wu Q . Smith A . 3 . Grundke-Iqbal . I . Iqbal . K . 6430192 .
• Hanger DP . New phosphorylation sites identified in hyperphosphorylated tau (paired helical filament-tau) from Alzheimer's disease brain using nanoelectrospray mass spectrometry . J. Neurochem. . 71 . 6 . 2465–76 . 1998 . 9832145 . 10.1046/j.1471-4159.1998.71062465.x . vanc. Betts JC . Loviny TL . 3 . Blackstock . Walter P. . Anderton . Brian H. . 45602824 . free.
• Schneider A . Phosphorylation that detaches tau protein from microtubules (Ser262, Ser214) also protects it against aggregation into Alzheimer paired helical filaments . Biochemistry . 38 . 12 . 3549–58 . 1999 . 10090741 . 10.1021/bi981874p . vanc. Biernat J . von Bergen M . 3 . Mandelkow . E. . Mandelkow . E.-M. .
• Reynolds CH . Phosphorylation sites on tau identified by nanoelectrospray mass spectrometry: differences in vitro between the mitogen-activated protein kinases ERK2, c-Jun N-terminal kinase and P38, and glycogen synthase kinase-3beta . J. Neurochem. . 74 . 4 . 1587–95 . 2000 . 10737616 . 10.1046/j.1471-4159.2000.0741587.x . vanc. Betts JC . Blackstock WP . 3 . Nebreda . Angel R. . Anderton . Brian H. . 25661250 .
• Liu F, Iqbal K, Grundke-Iqbal I, Gong CX . Involvement of aberrant glycosylation in phosphorylation of tau by cdk5 and GSK-3beta . FEBS Lett. . 530 . 1–3 . 209–14 . 2002 . 12387894 . 10.1016/S0014-5793(02)03487-7 . 29065525 .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Gevaert K . Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides . Nat. Biotechnol. . 21 . 5 . 566–9 . 2004 . 12665801 . 10.1038/nbt810 . vanc. Goethals M . Martens L . 3 . Van Damme . Jozef . Staes . An . Thomas . Grégoire R. . Vandekerckhove . Joël . 23783563 .
• Burwinkel B . 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 . 2004 . 12825073 . 10.1038/sj.ejhg.5200996 . vanc. Hu B . Schroers A . 3 . Clemens . Paula R . Moses . Shimon W . Shin . Yoon S . Pongratz . Dieter . Vorgerd . Matthias . Kilimann . Manfred W . 44579006 . free .

Notes and References

1. Wehner M, Kilimann MW . Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1) . Hum Genet . 96 . 5 . 616–8 . Jan 1996 . 8530014 . 10.1007/bf00197422. 3257867 .
2. Web site: Entrez Gene: PHKG1 phosphorylase kinase, gamma 1 (muscle).