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MGP002256

UniProt Annotations

Entry Information
Gene Namephosphofructokinase, muscle
Protein EntryPFKAM_HUMAN
UniProt IDP08237
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P08237-1; Sequence=Displayed; Name=2; IsoId=P08237-2; Sequence=VSP_004667; Name=3; IsoId=P08237-3; Sequence=VSP_046125; Note=No experimental confirmation available. Ref.4 (BAC86498) sequence is in conflict in position: 2:H->L. {ECO:0000305};
Catalytic ActivityATP + D-fructose 6-phosphate = ADP + D- fructose 1,6-bisphosphate. {ECO:0000255|HAMAP-Rule:MF_03184}.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420;
DiseaseGlycogen 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. {ECO:0000269|PubMed:22133655, ECO:0000269|PubMed:24427140, ECO:0000269|PubMed:7513946, ECO:0000269|PubMed:7825568, ECO:0000269|PubMed:8889589}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationAllosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate.
FunctionCatalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.
InteractionSelf; NbExp=2; IntAct=EBI-514788, EBI-514788; P17858:PFKL; NbExp=6; IntAct=EBI-514788, EBI-487243;
MiscellaneousIn human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.
PathwayCarbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 3/4. {ECO:0000255|HAMAP-Rule:MF_03184}.
PtmGlcNAcylation decreases enzyme activity. {ECO:0000250}.
SimilarityBelongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade "E" sub-subfamily. {ECO:0000255|HAMAP-Rule:MF_03184}.
Subcellular LocationCytoplasm {ECO:0000255|HAMAP-Rule:MF_03184}.
SubunitHomo- and heterotetramers. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3. Interacts (via C-terminus) with HK1 (via N-terminal spermatogenic cell-specific region) (By similarity). {ECO:0000250|UniProtKB:P47857}.
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