PFKL

From Wikipedia, the free encyclopedia
Phosphofructokinase, liver
Identifiers
SymbolsPFKL; PFK-B
External IDsOMIM: 171860 MGI: 97547 HomoloGene: 55668 ChEMBL: 2191 GeneCards: PFKL Gene
EC number2.7.1.11
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez521118641
EnsemblENSG00000141959ENSMUSG00000020277
UniProtP17858P12382
RefSeq (mRNA)NM_001002021NM_008826
RefSeq (protein)NP_002617NP_032852
Location (UCSC)Chr 21:
45.72 – 45.75 Mb
Chr 10:
77.99 – 78.01 Mb
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

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

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GlycolysisGluconeogenesis_WP534 go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to Entrez go to article go to article go to article go to article go to article go to WikiPathways go to article go to Entrez go to article
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Glycolysis and Gluconeogenesis edit
  1. The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534". 

Model organisms

Model organisms have been used in the study of PFKL function. A conditional 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]

References

  1. 1.0 1.1 "Entrez Gene: PFKL phosphofructokinase, liver". 
  2. "Salmonella infection data for Pfkl". Wellcome Trust Sanger Institute. 
  3. "Citrobacter infection data for Pfkl". Wellcome Trust Sanger Institute. 
  4. 4.0 4.1 4.2 4.3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  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. doi:10.1038/nature10163. PMC 3572410. PMID 21677750. 
  9. Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  10. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  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. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading

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