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]
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.
Subunit:
Homo- and heterotetramers. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3. Interacts (via SLCterminus) with HK1 (via N-terminal spermatogenic cell-specific region)
Subcellular Location:
Cytoplasm.
Post-translational modifications:
GlcNAcylation decreases enzyme activity.
DISEASE:
Glycogen storage disease 7 (GSD7) [MIM:232800]: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.
Similarity:
Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily.
SWISS:
P08237
Gene ID:
5213
Database links:
Entrez Gene: 506544 Cow
Entrez Gene: 403849 Dog
Entrez Gene: 100034116 Horse
Entrez Gene: 5213 Human
Entrez Gene: 18642 Mouse
Entrez Gene: 73721 Pig
Entrez Gene: 100345647 Rabbit
Entrez Gene: 65152 Rat
Omim: 610681 Human
SwissProt: Q0IIG5 Cow
SwissProt: P52784 Dog
SwissProt: Q867C9 Horse
SwissProt: P08237 Human
SwissProt: P47857 Mouse
SwissProt: Q2HYU2 Pig
SwissProt: P00511 Rabbit
SwissProt: P47858 Rat
Unigene: 75160 Human
Unigene: 272582 Mouse
Unigene: 11004 Rat
| Picture |
Paraformaldehyde-fixed, paraffin embedded (mouse kidney); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (PFKM PFK1) Polyclonal Antibody, Unconjugated (SL3982R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Paraformaldehyde-fixed, paraffin embedded (rat brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (PFKM PFK1) Polyclonal Antibody, Unconjugated (SL3982R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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