Gene Symbol: Pfkm
Description: phosphofructokinase, muscle
Alias: ATP-PFK, PFK-A, Pfk-M, ATP-dependent 6-phosphofructokinase, muscle type, 6-phosphofructokinase type A, 6-phosphofructokinase, muscle type, phosphofructo-1-kinase isozyme A, phosphofructokinase 1, phosphofructokinase-A, phosphofructokinase-M, phosphohexokinase
Species: rat
Products:     Pfkm

Top Publications

  1. Amit R, Bashan N, Abarbanel J, Shapira Y, Sofer S, Moses S. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Muscle Nerve. 1992;15:455-8 pubmed
    ..The possibility that this multisystem PFK-1 deficiency may be related to the absence of a yet unknown activator, common to all PFK-1 isozymes, is discussed...
  2. Vora S, Seaman C, Durham S, Piomelli S. Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system. Proc Natl Acad Sci U S A. 1980;77:62-6 pubmed
    ..The structural heterogeneity of erythrocyte PFK provides a molecular genetic basis for the differential organ involvement observed in some inherited PFK deficiency states in which myopathy or hemolysis or both can occur. ..
  3. Ismail R, Ul Hussain M. The up regulation of phosphofructokinase1 (PFK1) protein during chemically induced hypoxia is mediated by the hypoxia-responsive internal ribosome entry site (IRES) element, present in its 5'untranslated region. Biochimie. 2017;139:38-45 pubmed publisher
    ..Our data provides an interesting mechanism that may explain the increased glycolytic capacity of the astrocytes after brain hypoxia. ..
  4. Vora S, Corash L, Engel W, Durham S, Seaman C, Piomelli S. The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. Blood. 1980;55:629-35 pubmed
    ..The paradox of mild erythrocytosis despite hemolysis reflects the decreased production of 2,3-DPG...
  5. Vora S, Oskam R, Staal G. Isoenzymes of phosphofructokinase in the rat. Demonstration of the three non-identical subunits by biochemical, immunochemical and kinetic studies. Biochem J. 1985;229:333-41 pubmed
  6. Nakajima H, Noguchi T, Yamasaki T, Kono N, Tanaka T, Tarui S. Cloning of human muscle phosphofructokinase cDNA. FEBS Lett. 1987;223:113-6 pubmed
    ..Like RMPFK, HMPFK also possessed the internal homology between C- and N-halves in its primary structure. Cloning of HMPFK cDNA will help to identify the molecular defect in patients with glycogenosis type VII (HMPFK deficiency). ..
  7. Gekakis N, Gehnrich S, Sul H. Phosphofructokinase isozyme expression during myoblast differentiation. J Biol Chem. 1989;264:3658-61 pubmed
    ..In contrast, the mRNA level for PFK-B increased slightly during differentiation, showing a maximum of 4-fold at 96 h. These results indicate isozyme-specific control of muscle PFK gene expression during C2 myoblast differentiation. ..
  8. Tornheim K. Activation of muscle phosphofructokinase by fructose 2,6-bisphosphate and fructose 1,6-bisphosphate is differently affected by other regulatory metabolites. J Biol Chem. 1985;260:7985-9 pubmed
    ..These results are consistent with competition of the two fructose bisphosphates for the same binding site, but indicate that the conformational changes produced by their binding are different. ..
  9. Yamasaki T, Nakajima H, Kono N, Hotta K, Yamada K, Imai E, et al. Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. Gene. 1991;104:277-82 pubmed
    ..These results indicated that the hPFK-M gene contains at least two promoter regions, facilitating the expression of the heterogeneous gene transcripts in a cell-type-specific manner. ..

More Information


  1. Tornheim K, Lowenstein J. Control of phosphofructokinase from rat skeletal muscle. Effects of fructose diphosphate, AMP, ATP, and citrate. J Biol Chem. 1976;251:7322-8 pubmed
    ..Citrate is a potent inhibitor at physiological concentrations, whereas AMP is a strong activator. Both AMP and citrate affect the maximum velocity and have little effect on affinity of the enzyme for fructose diphosphate. ..
  2. Coelho W, Costa K, Sola Penna M. Serotonin stimulates mouse skeletal muscle 6-phosphofructo-1-kinase through tyrosine-phosphorylation of the enzyme altering its intracellular localization. Mol Genet Metab. 2007;92:364-70 pubmed
  3. Richard A, Webb D, Goodman J, Schultz V, Flanagan J, Getty Kaushik L, et al. Tissue-dependent loss of phosphofructokinase-M in mice with interrupted activity of the distal promoter: impairment in insulin secretion. Am J Physiol Endocrinol Metab. 2007;293:E794-801 pubmed
  4. Tessier J, Thurner B, Jüngling E, Lückhoff A, Fischer Y. Impairment of glucose metabolism in hearts from rats treated with endotoxin. Cardiovasc Res. 2003;60:119-30 pubmed
    ..Impairment of glycolysis may be mediated by a sphingomyelin derivative, and COX-2-derived thromboxane A2. ..
  5. Ma Z, Ramanadham S, Kempe K, Hu Z, Ladenson J, Turk J. 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. Biochim Biophys Acta. 1996;1308:151-63 pubmed
    ..These findings establish the sequence of rat PFK-A, demonstrate that it is expressed in FACS-purified islet beta-cells, and suggest that its expression is regulated by a cytokine which influences insulin secretion. ..
  6. Vora S, DiMauro S, Spear D, Harker D, Danon M. Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. J Clin Invest. 1987;80:1479-85 pubmed
    ..The presence of a small amount of enzyme activity in the muscle may account for the atypical myopathy in this patient...
  7. Su Y, Zhou A, Al Lamki R, Karet F. The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans. J Biol Chem. 2003;278:20013-8 pubmed
    ..display analysis revealed a consensus motif (WLELRP) with almost complete homology to part of the enzyme phosphofructokinase 1 (PFK-1). Activity of this enzyme is the rate-limiting step in glycolysis...
  8. Schliselfeld L, Danon M. Inverse relationship of skeletal muscle glycogen from wild-type and genetically modified mice to their phosphorylase a activity. Biochem Biophys Res Commun. 2002;290:874-7 pubmed
    ..00 mM AMP (4.8% and less glycogen phosphorylase a). This suggests that there is an inverse relationship between mouse muscle phosphorylase a and the muscle's glycogen content. ..
  9. Chen Zion M, Bassukevitz Y, Beitner R. Rapid changes in carbohydrate metabolism in muscle induced by triiodothyronine; the role of glucose 1,6-bisphosphate. Biochem Mol Med. 1995;56:19-25 pubmed
  10. Yañez A, Bustamante X, Bertinat R, Werner E, Rauch M, Concha I, et al. Expression of key substrate cycle enzymes in rat spermatogenic cells: fructose 1,6 bisphosphatase and 6 phosphofructose 1-kinase. J Cell Physiol. 2007;212:807-16 pubmed
  11. Garcia M, Pujol A, Ruzo A, Riu E, Ruberte J, Arbós A, et al. Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. PLoS Genet. 2009;5:e1000615 pubmed publisher
    Mutations in the gene for muscle phosphofructo-1-kinase (PFKM), a key regulatory enzyme of glycolysis, cause Type VII glycogen storage disease (GSDVII)...
  12. Nakamura N, Mori C, Eddy E. Molecular complex of three testis-specific isozymes associated with the mouse sperm fibrous sheath: hexokinase 1, phosphofructokinase M, and glutathione S-transferase mu class 5. Biol Reprod. 2010;82:504-15 pubmed publisher
    ..screens carried out using the SSR as bait determined that HK1S is tethered to muscle-type phosphofructokinase (PFKM) in the principal piece region...
  13. Vora S. Isozymes of human phosphofructokinase in blood cells and cultured cell lines: molecular and genetic evidence for a trigenic system. Blood. 1981;57:724-32 pubmed
  14. Nakajima H, Noguchi T, Hamaguchi T, Tomita K, Hanafusa T, Kono N, et al. Expression of mouse phosphofructokinase-M gene alternative transcripts: evidence for the conserved two-promoter system. Biochem J. 1994;303 ( Pt 2):449-53 pubmed
    ..Although the regulatory mechanism and the physiological significance are not fully known, this would indicate that phosphofructokinase-M gene transcripts are affected during the diabetic state. ..
  15. Raben N, Exelbert R, Spiegel R, Sherman J, Nakajima H, Plotz P, et al. Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. Am J Hum Genet. 1995;56:131-41 pubmed
    ..The mutants expressed in yeast generate functional enzyme with modest changes in thermal stability. The advantages and limitations of the yeast system for expression of human mutant PFKs are discussed...
  16. Durante P, Raleigh X, Gomez M, Campos G, Ryder E. Isozyme analysis of human polymorphonuclear leukocyte phosphofructokinase from insulin resistant individuals. Biochem Biophys Res Commun. 1996;225:975-82 pubmed