PFKL
| PFKL | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process |
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| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 21: 44.3 – 44.33 Mb | Chr 10: 77.82 – 77.85 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
6-phosphofructokinase, liver type (PFKL) is an
catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014][5]
Structure
Gene
The PFKL mRNA sequence includes 55
noncoding regions, as well as 2,337 nucleotides in the coding region, encoding 779 amino acids. This coding region only shares a 68% similarity between PFKL and the muscle-type PFKM.[6]
Protein
This 80-kDa protein is one of three subunit types that comprise the five tetrameric PFK
Function
This gene encodes one of three protein subunits of PFK, which are expressed and combined to form the tetrameric PFK in a tissue-specific manner. As a PFK subunit, PFKL is involved in catalyzing the
NADPH levels.[12]
PFKL has also been detected in
Clinical significance
As the erythrocyte PFK is composed of both PFKL and PFKM, this
Overexpression of PFKL has been associated with
biochemical changes in PFK that enhance its glycolytic function. Moreover, the PFKL gene maps to the triplicated region of chromosome 21 responsible for DS, indicating that this gene, too, has been triplicated.[13]
Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.[§ 1]
Glycolysis and Gluconeogenesis edit
- ^ The interactive pathway map can be edited at WikiPathways: "GlycolysisGluconeogenesis_WP534".
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000141959 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020277 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: PFKL phosphofructokinase, liver".
- PMID 2533063.
- ^ PMID 6444721.
- ^ PMID 6227635.
- ^ PMID 6445244.
- ^ S2CID 20133199.
- ^ PMID 22474333.
- ^ PMID 26194095.
- S2CID 38259672.
Further reading
- Kahn A, Meienhofer MC, Cottreau D, Lagrange JL, Dreyfus JC (April 1979). "Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissues". Human Genetics. 48 (1): 93–108. S2CID 23300861.
- Kristensen T, Lopez R, Prydz H (1992). "An estimate of the sequencing error frequency in the DNA sequence databases". DNA Sequence. 2 (6): 343–6. PMID 1446073.
- Wang D, Fang H, Cantor CR, Smith CL (April 1992). "A contiguous Not I restriction map of band q22.3 of human chromosome 21". Proceedings of the National Academy of Sciences of the United States of America. 89 (8): 3222–6. PMID 1565613.
- Elson A, Levanon D, Brandeis M, Dafni N, Bernstein Y, Danciger E, Groner Y (May 1990). "The structure of the human liver-type phosphofructokinase gene". Genomics. 7 (1): 47–56. PMID 2139864.
- Levanon D, Danciger E, Dafni N, Bernstein Y, Elson A, Moens W, Brandeis M, Groner Y (December 1989). "The primary structure of human liver type phosphofructokinase and its comparison with other types of PFK". DNA. 8 (10): 733–43. PMID 2533063.
- Van Keuren M, Drabkin H, Hart I, Harker D, Patterson D, Vora S (September 1986). "Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody". Human Genetics. 74 (1): 34–40. S2CID 26346007.
- Levanon D, Danciger E, Dafni N, Groner Y (November 1986). "Genomic clones of the human liver-type phosphofructokinase". Biochemical and Biophysical Research Communications. 141 (1): 374–80. PMID 2948503.
- Vora S, Davidson M, Seaman C, Miranda AF, Noble NA, Tanaka KR, Frenkel EP, Dimauro S (December 1983). "Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency". The Journal of Clinical Investigation. 72 (6): 1995–2006. PMID 6227635.
- Vora S, Seaman C, Durham S, Piomelli S (January 1980). "Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system". Proceedings of the National Academy of Sciences of the United States of America. 77 (1): 62–6. PMID 6444721.
- Koster JF, Slee RG, Van Berkel TJ (April 1980). "Isoenzymes of human phosphofructokinase". Clinica Chimica Acta; International Journal of Clinical Chemistry. 103 (2): 169–73. PMID 6445244.
- Vora S, Francke U (June 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". Proceedings of the National Academy of Sciences of the United States of America. 78 (6): 3738–42. PMID 6455664.
- Zeitschel U, Bigl M, Eschrich K, Bigl V (December 1996). "Cellular distribution of 6-phosphofructo-1-kinase isoenzymes in rat brain". Journal of Neurochemistry. 67 (6): 2573–80. S2CID 46068703.
- Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 21 (5): 566–9. S2CID 23783563.
- Zhang C, Dowd DR, Staal A, Gu C, Lian JB, van Wijnen AJ, Stein GS, MacDonald PN (September 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". The Journal of Biological Chemistry. 278 (37): 35325–36. PMID 12840015.
- Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM (July 2004). "Functional proteomics mapping of a human signaling pathway". Genome Research. 14 (7): 1324–32. PMID 15231748.
- Rush J, Moritz A, Lee KA, Guo A, Goss VL, Spek EJ, Zhang H, Zha XM, Polakiewicz RD, Comb MJ (January 2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells". Nature Biotechnology. 23 (1): 94–101. S2CID 7200157.