ENO3 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ENO3 |
| Official Name | enolase 3 [Source:HGNC Symbol;Acc:HGNC:3354] |
| Ensembl ID | ENSG00000108515 |
| Bio databases IDs | |
| Aliases | enolase 3, beta-enolase, muscle enriched enolase |
| Synonyms | BBE, Beta enolase, ENOLASE 3, enolase 3, beta muscle, enolase 3, β muscle, GSD13, MSE, β enolase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ENO3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- enolase_like
- Enolase, C-terminal TIM barrel domain
- binding protein
- TIM-like beta/alpha barrel domains
- phosphopyruvate hydratase
- enzyme
- protein binding
- Enolase, N-terminal domain
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- epithelial cancer
- aldosterone producing adrenocortical adenoma
- adenoma formation
- hepatocellular carcinoma
- liver cancer
- amyotrophic lateral sclerosis
- lung adenocarcinoma
- lung adenocarcinoma formation
- glycogen storage disease XIII
role in cell
- glycolysis in
- gluconeogenesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ENO3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gluconeogenesis
- glycolysis
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- membrane
- cytosol
- phosphopyruvate hydratase complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- phosphopyruvate hydratase activity