Human Gene PFKL (ENST00000349048.9) from GENCODE V44
Description: Homo sapiens phosphofructokinase, liver type (PFKL), transcript variant 2, mRNA. (from RefSeq NM_002626) RefSeq Summary (NM_002626): This gene encodes the liver (L) subunit of an enzyme that 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]. Gencode Transcript: ENST00000349048.9 Gencode Gene: ENSG00000141959.17 Transcript (Including UTRs) Position: hg38 chr21:44,300,053-44,327,373 Size: 27,321 Total Exon Count: 22 Strand: + Coding Region Position: hg38 chr21:44,300,106-44,326,862 Size: 26,757 Coding Exon Count: 22
ID:K6PL_HUMAN DESCRIPTION: RecName: Full=6-phosphofructokinase, liver type; EC=2.7.1.11; AltName: Full=Phosphofructo-1-kinase isozyme B; Short=PFK-B; AltName: Full=Phosphofructokinase 1; AltName: Full=Phosphohexokinase; FUNCTION: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to generate fructose-1,6-bisphosphate (FBP) and ADP. CATALYTIC ACTIVITY: ATP + D-fructose 6-phosphate = ADP + D- fructose 1,6-bisphosphate. COFACTOR: Magnesium. ENZYME REGULATION: Allosteric enzyme activated by ADP, AMP, or fructose bisphosphate and inhibited by ATP or citrate. GlcNAcylation by OGT overcomes allosteric regulation. PATHWAY: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 3/4. SUBUNIT: Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3. INTERACTION: Self; NbExp=2; IntAct=EBI-487243, EBI-487243; P08237:PFKM; NbExp=6; IntAct=EBI-487243, EBI-514788; PTM: GlcNAcylation at Ser-529 by OGT decreases enzyme activity, leading to redirect glucose flux through the oxidative pentose phosphate pathway. Glycosylation is stimulated by both hypoxia and glucose deprivation. MISCELLANEOUS: In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes. MISCELLANEOUS: Glycosylation may play a role in cancer cell proliferation: inhibition of 6-phosphofructokinase acitivity and subsequent redirection of the glucose flux through the oxidative pentose phosphate pathway confers a selective growth advantage on cancer cells. Moreover GlcNAcylation is observed in multiple cancer cell lines and tissue samples and GlcNAcylation leads to larger xenografts tunors in mice (PubMed:22923583). SIMILARITY: Belongs to the phosphofructokinase family. Two domains subfamily.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P17858
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006002 fructose 6-phosphate metabolic process GO:0006096 glycolytic process GO:0008152 metabolic process GO:0009749 response to glucose GO:0016310 phosphorylation GO:0030388 fructose 1,6-bisphosphate metabolic process GO:0043312 neutrophil degranulation GO:0046676 negative regulation of insulin secretion GO:0051259 protein oligomerization GO:0051289 protein homotetramerization GO:0061615 glycolytic process through fructose-6-phosphate GO:0061621 canonical glycolysis
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