MGP Database

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MGP000954

UniProt Annotations

Entry Information
Gene Nameenolase 3 (beta, muscle)
Protein EntryENOB_HUMAN
UniProt IDP13929
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13929-1; Sequence=Displayed; Name=2; IsoId=P13929-2; Sequence=VSP_037753; Note=No experimental confirmation available.; Name=3; IsoId=P13929-3; Sequence=VSP_037752; Note=No experimental confirmation available.;
Catalytic Activity2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Mg(2+) is required for catalysis and for stabilizing the dimer.;
Developmental StageDuring ontogenesis, there is a transition from the alpha/alpha homodimer to the alpha/beta heterodimer in striated muscle cells, and to the alpha/gamma heterodimer in nerve cells.
DiseaseGlycogen storage disease 13 (GSD13) [MIM:612932]: A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis. {ECO:0000269|PubMed:11506403}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAppears to have a function in striated muscle development and regeneration.
PathwayCarbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 4/5.
SimilarityBelongs to the enolase family. {ECO:0000305}.
Subcellular LocationCytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By similarity). {ECO:0000250}.
SubunitMammalian enolase is composed of 3 isozyme subunits, alpha, beta and gamma, which can form homodimers or heterodimers which are cell-type and development-specific. Interacts with PNKD. {ECO:0000269|PubMed:15188056}.
Tissue SpecificityThe alpha/alpha homodimer is expressed in embryo and in most adult tissues. The alpha/beta heterodimer and the beta/beta homodimer are found in striated muscle, and the alpha/gamma heterodimer and the gamma/gamma homodimer in neurons.
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