Phka1

Summary

Gene Symbol: Phka1
Description: phosphorylase kinase alpha 1
Alias: 5330411D17, 9830108K24Rik, Phka, phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform, phosphorylase kinase alpha M subunit
Species: mouse
Products:     Phka1

Top Publications

  1. Cooper P, Keer J, McCabe V, Hamvas R, Brown S, Rastan S, et al. Physical mapping of 2000 kb of the mouse X chromosome in the vicinity of the Xist locus. Genomics. 1993;15:570-5 pubmed
    ..The deduced locus order is as follows: Gjb-1, Ccg-1, DXCrc171, Rps4, Phka, DXCrc177, DXCrc318, Xist...
  2. Wehner M, Clemens P, Engel A, Kilimann M. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet. 1994;3:1983-7 pubmed
    ..The condition of this patient therefore is a human homolog of the X-linked muscle Phk deficiency of I-strain mice. To our knowledge, this is the first description of a human Phk deficiency mutation. ..
  3. Lyon J, Porter J, Robertson M. Phosphorylase b kinase inheritance in mice. Science. 1967;155:1550-1 pubmed
    ..The inheritance of the enzyme through two generations from original matings between one inbred strain of mice, the I, which lacks the enzyme, and another strain, the C(57,) follows the classical Mendelian pattern. ..
  4. Lyon J, Porter J. The relation of phosphorylase to glycogenolysis in skeletal muscle and heart of mice. J Biol Chem. 1963;238:1-11 pubmed
  5. Hendrickx J, Dams E, Coucke P, Lee P, Fernandes J, Willems P. X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hum Mol Genet. 1996;5:649-52 pubmed
    ..These findings might explain why the in vitro PHK enzymatic activity is not deficient in XLG II, whereas it is in XLG I. ..
  6. Huijing F, Eicher E, Coleman D. Location of phosphorylase kinase (Phk) in the mouse X chromosome. Biochem Genet. 1973;9:193-6 pubmed
  7. Brockdorff N, Kay G, Smith S, Keer J, Hamvas R, Brown S, et al. High-density molecular map of the central span of the mouse X chromosome. Genomics. 1991;10:17-22 pubmed
  8. Gross S, Longshore M, Pangburn S. The phosphorylase kinase deficiency (Phk) locus in the mouse: evidence that the mutant allele codes for an enzyme with an abnormal structure. Biochem Genet. 1975;13:567-84 pubmed
  9. Reed V, Laval S, McCabe V, Willard H, Boyd Y. Mapping of loci and translocation breakpoints in Xq13: isolation of a conserved locus that maps close to CCG1 in human and mouse. Mamm Genome. 1994;5:237-40 pubmed

More Information

Publications30

  1. Varsanyi M, Gröschel Stewart U, Heilmeyer M. Characterization of a Ca2+ -dependent protein kinase in skeletal muscle membranes of I-strain and wild-type mice. Eur J Biochem. 1978;87:331-40 pubmed
  2. Debrand E, Heard E, Avner P. Cloning and localization of the murine Xpct gene: evidence for complex rearrangements during the evolution of the region around the Xist gene. Genomics. 1998;48:296-303 pubmed
    ..Consequently, the evolution of the region between human and mouse appears to be highly complex, with structural rearrangements involving a region of up to 600 kb or more around the Xist gene. ..
  3. Heard E, Simmler M, Larin Z, Rougeulle C, Courtier B, Lehrach H, et al. Physical mapping and YAC contig analysis of the region surrounding Xist on the mouse X chromosome. Genomics. 1993;15:559-69 pubmed
  4. Wüllrich A, Hamacher C, Schneider A, Kilimann M. 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. 1993;268:23208-14 pubmed
  5. Lyon J. The X-chromosome and the enzymes controlling muscle glycogen: phosphorylase kinase. Biochem Genet. 1970;4:169-85 pubmed
  6. Hamvas R, Zinn A, Keer J, Fisher E, Beer Romero P, Brown S, et al. Rps4 maps near the inactivation center on the mouse X chromosome. Genomics. 1992;12:363-7 pubmed
    ..utilizing interspecific mouse backcrosses and the intron-specific probe demonstrates that Rps4 maps close to the Phka locus on the mouse X chromosome and in the vicinity of the X-inactivation center...
  7. Brown S. XIST and the mapping of the X chromosome inactivation centre. Bioessays. 1991;13:607-12 pubmed
  8. Barnard P, Derry J, Ryder Cook A, Zander N, Kilimann M. Mapping of the phosphorylase kinase alpha subunit gene on the mouse X chromosome. Cytogenet Cell Genet. 1990;53:91-4 pubmed
  9. Davidson J, Ozcelik T, Hamacher C, Willems P, Francke U, Kilimann M. cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis. Proc Natl Acad Sci U S A. 1992;89:2096-100 pubmed
    ..In contrast to the muscle isoform gene, PHKA1, the gene of this additional isoform, PHKA2, is predominantly expressed in liver and other nonmuscle tissues...
  10. Harmann B, Zander N, Kilimann M. Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing. J Biol Chem. 1991;266:15631-7 pubmed
    ..This modification probably affects the major regulatory phosphorylation site of the beta subunit. ..
  11. Borsani G, Tonlorenzi R, Simmler M, Dandolo L, Arnaud D, Capra V, et al. Characterization of a murine gene expressed from the inactive X chromosome. Nature. 1991;351:325-9 pubmed
    ..Nucleotide sequence analysis indicates that Xist may be associated with a protein product. The similar map positions and expression patterns for Xist in mouse and man suggest that this gene may have a role in X inactivation. ..
  12. Geng Y, Derry J, Hendrickx J, Coucke P, Willems P, Barnard P. Mapping of a liver phosphorylase kinase alpha-subunit gene on the mouse X chromosome. Genomics. 1993;15:191-3 pubmed
    ..We recently mapped the muscle alpha-subunit gene (Phka) to the mouse X chromosome in a region syntenic with the proximal long arm of the human X chromosome and containing ..
  13. Schneider A, Davidson J, Wüllrich A, Kilimann M. Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. Nat Genet. 1993;5:381-5 pubmed
    ..This mutation accounts for the virtually complete enzymatic deficiency, the tissue specificity and the X-linked mode of inheritance in this mutant. ..
  14. Bender P, Lalley P. I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs. Proc Natl Acad Sci U S A. 1989;86:9996-10000 pubmed
    ..These results are discussed in terms of a cis or trans mutation influencing the expression of either a single alpha/alpha' gene or two genes encoding alpha and alpha'. ..
  15. Chamberlain J, VanTuinen P, Reeves A, Philip B, Caskey C. Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice. Proc Natl Acad Sci U S A. 1987;84:2886-90 pubmed
    ..Reduced gamma-Phk mRNA in I-strain mice, therefore, appears to be a consequence of the Phk-mutant trait and does not stem from a mutant gamma-subunit gene. ..
  16. DiSanto J, Certain S, Wilson A, MacDonald H, Avner P, Fischer A, et al. The murine interleukin-2 receptor gamma chain gene: organization, chromosomal localization and expression in the adult thymus. Eur J Immunol. 1994;24:3014-8 pubmed
    ..Genomic clones for the murine IL-2R gamma will allow for further studies on the regulation and function of this gene in vivo. ..
  17. Cattanach B, Rasberry C, Evans E, Dandolo L, Simmler M, Avner P. Genetic and molecular evidence of an X-chromosome deletion spanning the tabby (Ta) and testicular feminization (Tfm) loci in the mouse. Cytogenet Cell Genet. 1991;56:137-43 pubmed
    ..The greasy (Gs) locus similarly appears to lie outside the deletion. ..
  18. Brockdorff N, Ashworth A, Kay G, Cooper P, Smith S, McCabe V, et al. Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature. 1991;351:329-31 pubmed
    ..Conservation between man and mouse of chromosomal position and unique expression exclusively from the inactive X chromosome lends support to the hypothesis that XIST and its mouse homologue are involved in X-chromosome inactivation. ..
  19. Scrocchi L, Orava M, Smith C, Han V, Hammond G. Spatial and temporal distribution of corticosteroid-binding globulin and its messenger ribonucleic acid in embryonic and fetal mice. Endocrinology. 1993;132:903-9 pubmed
    ..The results presented here suggest that temporal and spatial changes in the localization of CBG and its mRNA in the fetus may influence the effects of steroid hormones on developing tissues. ..
  20. Stayton C, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, et al. Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. Hum Mol Genet. 1994;3:1957-64 pubmed
    ..Type II helicases have been implicated in nucleotide excision repair and the initiation of transcription. This new gene, represents a potential candidate for several genetic disorders mapped to human Xq13. ..
  21. Huijing F. Phosphorylase kinase deficiency in mice. FEBS Lett. 1970;10:328-332 pubmed