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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Reference proteome
- Transit peptide
- Proteins
| UniProt | Protein Name |
|---|---|
| P30084 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| fatty acid beta-oxidation | ||
| branched-chain amino acid catabolic process |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial matrix |
|
|
| mitochondrion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| crotonyl-CoA hydratase activity | ||
| enoyl-CoA hydratase activity | ||
| 3-hydroxypropionyl-CoA dehydratase activity | ||
| delta(3)-delta(2)-enoyl-CoA isomerase activity | ||
| protein binding |
GO Hierarchy
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:10003 | sensorineural hearing loss | |
| DOID:420 | hypertrichosis | |
| DOID:4450 | renal cell carcinoma | |
| DOID:10534 | stomach cancer | |
| DOID:10579 | leukodystrophy | |
| DOID:10584 | retinitis pigmentosa | |
| DOID:10588 | adrenoleukodystrophy | |
| DOID:11105 | fundus albipunctatus | |
| DOID:11771 | spontaneous ocular nystagmus | |
| DOID:11832 | visual epilepsy |
- 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
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 173300 | WB:WBGene00001156 | ||
| 176376 | WB:WBGene00001155 | ||
| 36536 | FB:FBgn0033879 | ||
| 100186995 | CIOIN06046 | ||
| 103182105 | CALMI02573 | ||
| 102356614 | LATCH06106 | ||
| 368912 | ZFIN:ZDB-GENE-030616-617 | DANRE05980 | |
| 100528847 | ICTPU26668 | ||
| 113582079 | ELEEL29598 | ||
| 105010688 | ESOLU16365 |
