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Title: Pfkl  
Author: World Heritage Encyclopedia
Language: English
Subject: PFKP, Fructokinase, Phosphofructokinase, PFKM, Kinases
Collection: Genes Mutated in Mice
Publisher: World Heritage Encyclopedia


Phosphofructokinase, liver
Symbols  ; ATP-PFK; PFK-B; PFK-L
External IDs ChEMBL: GeneCards:
EC number
RNA expression pattern
Species Human Mouse
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

6-phosphofructokinase, liver type is an enzyme that in humans is encoded by the PFKL gene.[1] Phosphofructokinase (PFK) is a tetrameric enzyme that catalyzes a key step in glycolysis, namely the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate. Separate genes encode a muscle subunit (M) and a liver subunit (L). PFK from muscle is a homotetramer of M subunits, PFK from liver is a homotetramer of L-subunits, while PFK from platelets can be composed of any tetrameric combination of M and L subunits. The protein encoded by this gene represents the L subunit. Two transcript variants encoding different isoforms have been found for this gene.[1]


  • Interactive pathway map 1
  • Model organisms 2
  • References 3
  • Further reading 4

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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Glycolysis and Gluconeogenesis edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534". 

Model organisms

knockout mouse line, called Pfkltm1a(EUCOMM)Wtsi[6][7] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[8][9][10]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[4][11] Twenty six tests were carried out on mutant mice and three significant abnormalities were observed.[4] Few homozygous mutant embryos were identified during gestation, and none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and a hair follicle degeneration phenotype was observed.[4]


  1. ^ a b "Entrez Gene: PFKL phosphofructokinase, liver". 
  2. ^ infection data for Pfkl"Salmonella". Wellcome Trust Sanger Institute. 
  3. ^ infection data for Pfkl"Citrobacter". Wellcome Trust Sanger Institute. 
  4. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7.  
  5. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  6. ^ "International Knockout Mouse Consortium". 
  7. ^ "Mouse Genome Informatics". 
  8. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342.  
  9. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3.  
  10. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13.  
  11. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224.  

Further reading

  • Kahn A, Meienhofer MC, Cottreau D et al. (1979). "Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissues". Hum. Genet. 48 (1): 93–108.  
  • Kristensen T, Lopez R, Prydz H (1992). "An estimate of the sequencing error frequency in the DNA sequence databases". DNA Seq. 2 (6): 343–6.  
  • Wang D, Fang H, Cantor CR, Smith CL (1992). "A contiguous Not I restriction map of band q22.3 of human chromosome 21". Proc. Natl. Acad. Sci. U.S.A. 89 (8): 3222–6.  
  • Elson A, Levanon D, Brandeis M et al. (1990). "The structure of the human liver-type phosphofructokinase gene". Genomics 7 (1): 47–56.  
  • Levanon D, Danciger E, Dafni N et al. (1990). "The primary structure of human liver type phosphofructokinase and its comparison with other types of PFK". DNA 8 (10): 733–43.  
  • Van Keuren M, Drabkin H, Hart I et al. (1986). "Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody". Hum. Genet. 74 (1): 34–40.  
  • Levanon D, Danciger E, Dafni N, Groner Y (1987). "Genomic clones of the human liver-type phosphofructokinase". Biochem. Biophys. Res. Commun. 141 (1): 374–80.  
  • Vora S, Davidson M, Seaman C et al. (1984). "Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency". J. Clin. Invest. 72 (6): 1995–2006.  
  • Vora S, Seaman C, Durham S, Piomelli S (1980). "Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system". Proc. Natl. Acad. Sci. U.S.A. 77 (1): 62–6.  
  • Koster JF, Slee RG, Van Berkel TJ (1980). "Isoenzymes of human phosphofructokinase". Clin. Chim. Acta 103 (2): 169–73.  
  • Vora S, Francke U (1981). "Assignment of the human gene for liver-type 6-phosphofructokinase isozyme (PFKL) to chromosome 21 by using somatic cell hybrids and monoclonal anti-L antibody". Proc. Natl. Acad. Sci. U.S.A. 78 (6): 3738–42.  
  • Zeitschel U, Bigl M, Eschrich K, Bigl V (1996). "Cellular distribution of 6-phosphofructo-1-kinase isoenzymes in rat brain". J. Neurochem. 67 (6): 2573–80.  
  • Hattori M, Fujiyama A, Taylor TD et al. (2000). "The DNA sequence of human chromosome 21". Nature 405 (6784): 311–9.  
  • 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.  
  • Gevaert K, Goethals M, Martens L et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9.  
  • Zhang C, Dowd DR, Staal A et al. (2003). "Nuclear coactivator-62 kDa/Ski-interacting protein is a nuclear matrix-associated coactivator that may couple vitamin D receptor-mediated transcription and RNA splicing". J. Biol. Chem. 278 (37): 35325–36.  
  • Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5.  
  • Colland F, Jacq X, Trouplin V et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32.  
  • 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.  
  • Rush J, Moritz A, Lee KA et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nat. Biotechnol. 23 (1): 94–101.  
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