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enoyl-CoA hydratase, short chain 1
Summary
- Gene Symbol
-
- ECHS1
- Aliases
-
- SCEH
- short chain enoyl-CoA hydratase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Direct protein sequencing
- Disease variant
- Fatty acid metabolism
- Isomerase
- Lyase
- Mitochondrion
- Neurodegeneration
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| P30084 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| L-valine catabolic process |
|
|
| fatty acid beta-oxidation |
|
|
| fatty acid beta-oxidation |
|
|
| fatty acid beta-oxidation |
|
|
| fatty acid beta-oxidation |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrion |
|
|
| mitochondrial matrix |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| catalytic activity |
|
|
| delta(3)-delta(2)-enoyl-CoA isomerase activity |
|
|
| enoyl-CoA hydratase activity |
|
|
| enoyl-CoA hydratase activity |
|
|
| enoyl-CoA hydratase activity |
|
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Enoyl-CoA delta isomerase 2
- Functional Category
-
- E: Amino acid transport and metabolism
- I: Lipid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
| Gene Ontology |
|---|
| fatty acid beta-oxidation |
| InterPro |
|---|
| ClpP/crotonase-like domain superfamily |
| Enoyl-CoA hydratase, C-terminal |
| Enoyl-CoA hydratase/isomerase |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070540 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000639 | Nystagmus |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001332 | Dystonia |
| HP:0001522 | Death in infancy |
| HP:0001629 | Ventricular septal defect |
| Disease ID | Disease Name |
|---|---|
| OMIM:616277 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001829
- Gene Name
- enoyl CoA hydratase, short chain, 1, mitochondrial
