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Gene Review

PFKP  -  phosphofructokinase, platelet

Homo sapiens

Synonyms: 6-phosphofructokinase type C, ATP-PFK, ATP-dependent 6-phosphofructokinase, platelet type, PFK-C, PFK-P, ...
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Disease relevance of PFKP


Psychiatry related information on PFKP


High impact information on PFKP


Chemical compound and disease context of PFKP


Biological context of PFKP

  • With its distinct allosteric properties PFKP is regarded to be the key enzyme for the regulation of glycolysis in this organ [19].
  • In the one discordant hybrid, only the long arm of chromosome 10 was retained and PFKP was not expressed [20].
  • These data indicate that human PFKP is located on the short arm of chromosome 10, and that a gene dosage effect is demonstrable in fibroblasts with a duplication of 10p [20].
  • In order to assign the human PFKP locus to a specific human chromosome, in this study, we have examined ten human X rodent somatic cell hybrids for the expression of human P subunits using a mouse anti-human P subunit-specific antiserum in an active-enzyme-immunoprecipitation technique [20].
  • These results demonstrate that the TH-TRbeta complex can exert a non-genomic action in the cytosol leading to changes in gene expression by direct (HIF-1alpha) and indirect (ZAKI-4alpha, GLUT1, PFKP) means [21].

Anatomical context of PFKP


Associations of PFKP with chemical compounds

  • These genes are of special interest, because their products have important roles in cellular glucose metabolism, from glucose uptake (GLUT1) to glycolysis (PFKP) and lactate export (MCT4) [21].
  • In contradistinction to the isozymic alteration in hexokinase and pyruvate kinase, where highly regulated liver-type isozymes decrease or disappear and are replaced by the nonregulated ones, in the case of PFK, the highly regulated liver-type isozyme not only persists but actually increases, followed by an increase in the platelet-type isozyme [26].
  • PURPOSE: Fructose 2,6-bisphosphate (F2,6BP) is a potent activator of phosphofructokinase, which is a rate-limiting enzyme of glycolysis [27].
  • Furthermore, anti-CD69 mAb increased the glucose detritiation from [2-3H] and [3-3H]glucose, thus indicating an enhanced flux through hexokinase and PFK-1 steps [28].
  • Isozymic heterogeneity of human phosphofructokinase was investigated by means of ATP inhibition, immunoneutralization by antihuman muscle-type and antiliver-type phosphofructokinase antisera, solubility in (NH4)2SO4 solutions, and starch gel and polyacrylamide slab gel electrophoresis [24].

Other interactions of PFKP


Analytical, diagnostic and therapeutic context of PFKP

  • Using this cDNA as a probe, the gene for human PFKP, previously mapped to chromosome 10pter-p11.1, has been further localized to 10p15 by non-isotopic in situ hybridization [23].
  • Immunoprecipitation tests were performed with three specific antisera recognizing each of the basic subunits of human phosphofructokinase: muscle, M-type; liver, L-type; and fibroblast, F-type [22].
  • Phosphofructokinase (PFK) from human polymorphonuclear leukocytes (PMN) was characterized by immunological titration with subunit specific antibodies and column chromatography on QAE-Sephadex in three different groups: control, type II diabetic, and obese individuals [34].
  • The PFK activity was higher in the COPD group than in the control group (+34%, p < 0.05) [35].
  • The inactivation could be reversed by addition of fru-6-P, but not ATP, to the incubating media at 37.5 degrees C. Lens organ culture studies showed that the depletion of lenticular ATP seemed to precipitate the loss of PFK [36].


  1. Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. Nichols, R.C., Rudolphi, O., Ek, B., Exelbert, R., Plotz, P.H., Raben, N. Am. J. Hum. Genet. (1996) [Pubmed]
  2. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Amit, R., Bashan, N., Abarbanel, J.M., Shapira, Y., Sofer, S., Moses, S. Muscle Nerve (1992) [Pubmed]
  3. Muscle phosphofructokinase deficiency in two generations. Vorgerd, M., Karitzky, J., Ristow, M., Van Schaftingen, E., Tegenthoff, M., Jerusalem, F., Malin, J.P. J. Neurol. Sci. (1996) [Pubmed]
  4. Phosphofructokinase activity and acidosis during short-term tetanic contractions. Spriet, L.L. Can. J. Physiol. Pharmacol. (1991) [Pubmed]
  5. Gene dosage and Down's syndrome: metabolic and enzymatic changes in PC12 cells overexpressing transfected human liver-type phosphofructokinase. Elson, A., Bernstein, Y., Degani, H., Levanon, D., Ben-Hur, H., Groner, Y. Somat. Cell Mol. Genet. (1992) [Pubmed]
  6. Phosphofructokinase activity in fibroblasts from patients with Alzheimer's disease and age- and sex-matched controls. Sims, N.R., Blass, J.P. Metabolic brain disease. (1986) [Pubmed]
  7. Erythrocyte glycolysis and its marked alterations by muscular exercise in type VII glycogenosis. Shimizu, T., Kono, N., Kiyokawa, H., Yamada, Y., Hara, N., Mineo, I., Kawachi, M., Nakajima, H., Wang, Y.L., Tarui, S. Blood (1988) [Pubmed]
  8. Phosphofructokinase activity in the brain in Alzheimer's disease. Sims, N.R., Blass, J.P., Murphy, C., Bowen, D.M., Neary, D. Ann. Neurol. (1987) [Pubmed]
  9. Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis. Pastoris, O., Dossena, M., Vercesi, L., Scelsi, R., Torcetta, F., Savasta, S., Bianchi, E. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. (1992) [Pubmed]
  10. Alterations in phosphofructokinase isoenzymes during early human development. Establishment of adult organ-specific patterns. Davidson, M., Collins, M., Byrne, J., Vora, S. Biochem. J. (1983) [Pubmed]
  11. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. Haller, R.G., Lewis, S.F. N. Engl. J. Med. (1991) [Pubmed]
  12. Glycogen synthase and phosphofructokinase protein and mRNA levels in skeletal muscle from insulin-resistant patients with non-insulin-dependent diabetes mellitus. Vestergaard, H., Lund, S., Larsen, F.S., Bjerrum, O.J., Pedersen, O. J. Clin. Invest. (1993) [Pubmed]
  13. Effect of the antilipolytic nicotinic acid analogue acipimox on whole-body and skeletal muscle glucose metabolism in patients with non-insulin-dependent diabetes mellitus. Vaag, A., Skött, P., Damsbo, P., Gall, M.A., Richter, E.A., Beck-Nielsen, H. J. Clin. Invest. (1991) [Pubmed]
  14. Effects of insulin infusion on human skeletal muscle pyruvate dehydrogenase, phosphofructokinase, and glycogen synthase. Evidence for their role in oxidative and nonoxidative glucose metabolism. Mandarino, L.J., Wright, K.S., Verity, L.S., Nichols, J., Bell, J.M., Kolterman, O.G., Beck-Nielsen, H. J. Clin. Invest. (1987) [Pubmed]
  15. Identification of active site residues in pyrophosphate-dependent phosphofructo-1-kinase by site-directed mutagenesis. Green, P.C., Tripathi, R.L., Kemp, R.G. J. Biol. Chem. (1993) [Pubmed]
  16. Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Hays, A.P., Hallett, M., Delfs, J., Morris, J., Sotrel, A., Shevchuk, M.M., DiMauro, S. Neurology (1981) [Pubmed]
  17. Changes of activity and isozyme pattern of phosphofructokinase in the brains of patients with Alzheimer's disease. Bigl, M., Bleyl, A.D., Zedlick, D., Arendt, T., Bigl, V., Eschrich, K. J. Neurochem. (1996) [Pubmed]
  18. Hepatic phosphofructokinase-1 activity and fructose 2,6-bisphosphate levels in patients with abdominal sepsis. Arnold, J., Hamer, M.J., Irving, M. Clin. Sci. (1991) [Pubmed]
  19. Characterization of the human P-type 6-phosphofructo-1-kinase gene promoter in neural cell lines. Hannemann, A., Jandrig, B., Gaunitz, F., Eschrich, K., Bigl, M. Gene (2005) [Pubmed]
  20. Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: novel use of polyspecific rodent antisera to localize human enzyme genes. Vora, S., Miranda, A.F., Hernandez, E., Francke, U. Hum. Genet. (1983) [Pubmed]
  21. Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathway. Moeller, L.C., Cao, X., Dumitrescu, A.M., Seo, H., Refetoff, S. Nuclear receptor signaling [electronic resource] : the e-journal of NURSA. (2006) [Pubmed]
  22. Phosphofructokinase in human blood cells. Meienhofer, M.C., Lagrange, J.L., Cottreau, D., Lenoir, G., Dreyfus, J.C., Kahn, A. Blood (1979) [Pubmed]
  23. Regional chromosomal assignment of the human platelet phosphofructokinase gene to 10p15. Morrison, N., Simpson, C., Fothergill-Gilmore, L., Boyd, E., Connor, J.M. Hum. Genet. (1992) [Pubmed]
  24. Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissues. Kahn, A., Meienhofer, M.C., Cottreau, D., Lagrange, J.L., Dreyfus, J.C. Hum. Genet. (1979) [Pubmed]
  25. Isolation and sequence of a cDNA encoding human platelet phosphofructokinase. Simpson, C.J., Fothergill-Gilmore, L.A. Biochem. Biophys. Res. Commun. (1991) [Pubmed]
  26. Alterations in the activity and isozymic profile of human phosphofructokinase during malignant transformation in vivo and in vitro: transformation- and progression-linked discriminants of malignancy. Vora, S., Halper, J.P., Knowles, D.M. Cancer Res. (1985) [Pubmed]
  27. Phosphorylation of the 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase/PFKFB3 family of glycolytic regulators in human cancer. Bando, H., Atsumi, T., Nishio, T., Niwa, H., Mishima, S., Shimizu, C., Yoshioka, N., Bucala, R., Koike, T. Clin. Cancer Res. (2005) [Pubmed]
  28. Anti-CD69 antibodies enhance phorbol-dependent glucose metabolism and Ca2+ levels in human thymocytes. Antagonist effect of cyclosporin A. Conde, M., Montaño, R., Moreno-Aurioles, V.R., Ramirez, R., Sanchez-Mateos, P., Sanchez-Madrid, F., Sobrino, F. J. Leukoc. Biol. (1996) [Pubmed]
  29. Characterization of expression of phosphofructokinase isoforms in isolated rat pancreatic islets and purified beta cells and cloning and expression of the rat phosphofructokinase-A isoform. Ma, Z., Ramanadham, S., Kempe, K., Hu, Z., Ladenson, J., Turk, J. Biochim. Biophys. Acta (1996) [Pubmed]
  30. Trifunctional chemical probes for the consolidated detection and identification of enzyme activities from complex proteomes. Adam, G.C., Sorensen, E.J., Cravatt, B.F. Mol. Cell Proteomics (2002) [Pubmed]
  31. Isozymes of human phosphofructokinase: biochemical and genetic aspects. Vora, S. Isozymes Curr. Top. Biol. Med. Res. (1983) [Pubmed]
  32. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Moeller, L.C., Dumitrescu, A.M., Refetoff, S. Mol. Endocrinol. (2005) [Pubmed]
  33. Extraction and detection of mRNA from horsehair. Sato, T., Sato, G., Shoji, Y., Itou, T., Sakai, T. J. Vet. Med. Sci. (2006) [Pubmed]
  34. Isozyme analysis of human polymorphonuclear leukocyte phosphofructokinase from insulin resistant individuals. Durante, P., Raleigh, X., Gómez, M.E., Campos, G., Ryder, E. Biochem. Biophys. Res. Commun. (1996) [Pubmed]
  35. Metabolic enzyme activity in the quadriceps femoris muscle in patients with severe chronic obstructive pulmonary disease. Jakobsson, P., Jorfeldt, L., Henriksson, J. Am. J. Respir. Crit. Care Med. (1995) [Pubmed]
  36. Stability of mammalian lens phosphofructokinase. Cheng, H.M., Chylack, L.T., Chien, J., Barañano, E.C. Invest. Ophthalmol. Vis. Sci. (1977) [Pubmed]
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