Description: Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 4, mRNA. RefSeq Summary (NM_001166688): Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]. Transcript (Including UTRs) Position: hg19 chr12:48,513,013-48,540,187 Size: 27,175 Total Exon Count: 22 Strand: + Coding Region Position: hg19 chr12:48,531,513-48,539,491 Size: 7,979 Coding Exon Count: 13
ID:K6PF_HUMAN DESCRIPTION: RecName: Full=6-phosphofructokinase, muscle type; EC=2.7.1.11; AltName: Full=Phosphofructo-1-kinase isozyme A; Short=PFK-A; Short=Phosphofructokinase-M; 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. 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-514788, EBI-514788; P17858:PFKL; NbExp=6; IntAct=EBI-514788, EBI-487243; PTM: GlcNAcylation decreases enzyme activity (By similarity). DISEASE: Defects in PFKM are the cause of glycogen storage disease type 7 (GSD7) [MIM:232800]; also known as Tarui disease. GSD7 is an autosomal recessive disorder characterized by exercise intolerance with associated nausea and vomiting. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. Most patients obtain a "second wind" when the onset of exercise is followed by a brief rest period. In time patients adjust their activity level and are well compensated. MISCELLANEOUS: In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes. SIMILARITY: Belongs to the phosphofructokinase family. Two domains subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PFKM";
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 P08237
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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:0005980 glycogen catabolic process GO:0006002 fructose 6-phosphate metabolic process GO:0006096 glycolytic process GO:0008152 metabolic process GO:0016310 phosphorylation GO:0032024 positive regulation of insulin secretion GO:0042593 glucose homeostasis GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0046716 muscle cell cellular homeostasis GO:0046835 carbohydrate phosphorylation GO:0051259 protein oligomerization GO:0061615 glycolytic process through fructose-6-phosphate GO:0061621 canonical glycolysis GO:0093001 glycolysis from storage polysaccharide through glucose-1-phosphate