ECHS1 Gene Summary [Human]
The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ECHS1 |
| Official Name | enoyl-CoA hydratase, short chain 1 [Source:HGNC Symbol;Acc:HGNC:3151] |
| Ensembl ID | ENSG00000127884 |
| Bio databases IDs | |
| Aliases | enoyl-CoA hydratase, short chain 1, short chain enoyl-CoA hydratase |
| Synonyms | ECHS1D, Enoyl-CoA hydratase, enoyl-CoA hydratase, short chain 1, Enoyl-CoA hydratase, short-chain, 1, mitochondrial, enoyl Coenzyme A hydratase, short chain, 1, mitochondrial, LOC100911186, mECH, mECH1, SCEH |
| 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 ECHS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- naphthoate synthase (dihydroxynaphthoic acid synthetase)
- crotonase-like
- enzyme
- protein binding
- Enoyl-CoA hydratase/isomerase
- enoyl-CoA hydratase
Pathways
Biological processes and signaling networks where the ECHS1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- liver cancer
- non-insulin-dependent diabetes mellitus
- organismal death
- mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
- heart disease
- COVID-19
- gastric cancer
- Leigh syndrome
role in cell
- proliferation
- production in
- migration
- expression in
- apoptosis
- transmembrane potential
- accumulation in
- activation in
- invasion by
- translocation 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
- Mitochondria
- cytosol
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ECHS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty acid beta-oxidation
- branched chain family amino acid catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- 3-hydroxypropionyl-CoA dehydratase activity
- protein binding
- dodecenoyl-CoA delta-isomerase activity
- enoyl-CoA hydratase activity