Human Gene ENO3 (ENST00000323997.10) from GENCODE V44
Description: Homo sapiens enolase 3 (ENO3), transcript variant 1, mRNA. (from RefSeq NM_001976) RefSeq Summary (NM_001976): This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]. Gencode Transcript: ENST00000323997.10 Gencode Gene: ENSG00000108515.18 Transcript (Including UTRs) Position: hg38 chr17:4,951,095-4,957,131 Size: 6,037 Total Exon Count: 12 Strand: + Coding Region Position: hg38 chr17:4,951,830-4,957,047 Size: 5,218 Coding Exon Count: 11
ID:ENOB_HUMAN DESCRIPTION: RecName: Full=Beta-enolase; EC=4.2.1.11; AltName: Full=2-phospho-D-glycerate hydro-lyase; AltName: Full=Enolase 3; AltName: Full=Muscle-specific enolase; Short=MSE; AltName: Full=Skeletal muscle enolase; FUNCTION: Appears to have a function in striated muscle development and regeneration. CATALYTIC ACTIVITY: 2-phospho-D-glycerate = phosphoenolpyruvate + H(2)O. COFACTOR: Magnesium. Required for catalysis and for stabilizing the dimer. PATHWAY: Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 4/5. SUBUNIT: Mammalian 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. SUBCELLULAR LOCATION: Cytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By similarity). TISSUE SPECIFICITY: The 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. DEVELOPMENTAL STAGE: During 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. DISEASE: Defects in ENO3 are the cause of glycogen storage disease type 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. SIMILARITY: Belongs to the enolase family.
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 P13929
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000287 magnesium ion binding GO:0004634 phosphopyruvate hydratase activity GO:0016829 lyase activity GO:0042803 protein homodimerization activity GO:0046872 metal ion binding GO:0046982 protein heterodimerization activity