Human Gene ENO3 (uc002gac.4) Description and Page Index
Description: Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 1, mRNA. 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]. Transcript (Including UTRs) Position: hg19 chr17:4,854,384-4,860,426 Size: 6,043 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr17:4,855,125-4,860,342 Size: 5,218 Coding Exon Count: 11
ID:ENOB_HUMAN DESCRIPTION: RecName: Full=Beta-enolase; EC=126.96.36.199; 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.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ENO3 CDC HuGE Published Literature: ENO3
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
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.