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MGP000124

UniProt Annotations

Entry Information
Gene Namealdolase A, fructose-bisphosphate
Protein EntryALDOA_HUMAN
UniProt IDP04075
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P04075-1; Sequence=Displayed; Name=2; IsoId=P04075-2; Sequence=VSP_047261;
Biophysicochemical PropertiesKinetic parameters: KM=52 uM for fructose 1,6-bisphosphate (at 30 degrees Celsius) {ECO:0000269|PubMed:14766013}; Temperature dependence: Thermal denaturation midpoint (Tm) is 54.4 degrees Celsius. {ECO:0000269|PubMed:14766013};
Catalytic ActivityD-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.
DiseaseGlycogen storage disease 12 (GSD12) [MIM:611881]: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. {ECO:0000269|PubMed:14615364, ECO:0000269|PubMed:14766013, ECO:0000269|PubMed:2825199, ECO:0000269|PubMed:8598869}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity). {ECO:0000250}.
InteractionP12004:PCNA; NbExp=3; IntAct=EBI-709613, EBI-358311;
MiscellaneousIn vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.
PathwayCarbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 4/4.
SimilarityBelongs to the class I fructose-bisphosphate aldolase family. {ECO:0000305}.
Subcellular LocationCytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, M line. Note=In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca(2+). {ECO:0000250}.
SubunitHomotetramer. Interacts with SNX9 and WAS (By similarity). Interacts with FBP2; the interaction blocks FBP2 inhibition by physiological concentrations of AMP and reduces inhibition by Ca(2+). {ECO:0000250, ECO:0000269|PubMed:18214967}.
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