enoyl-CoA hydratase, short chain 1

Summary
Gene Symbol
  • ECHS1
Aliases
  • SCEH
  • short chain enoyl-CoA hydratase
Organism
Homo sapiens (human)
External Links
NCBI Gene
1892
HGNC
3151
KEGG Gene ID
hsa:1892
PubChem
1892
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Direct protein sequencing
  • Disease variant
  • Fatty acid metabolism
  • Isomerase
  • Lyase
  • Mitochondrion
  • Neurodegeneration
  • Phosphoprotein
  • Reference proteome
  • Transit peptide
Proteins
Displaying 1 entry
UniProt Protein Name
P30084
  • Enoyl-CoA hydratase 1
  • Short-chain enoyl-CoA hydratase
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
fatty acid beta-oxidation
branched-chain amino acid catabolic process
GO Hierarchy
Human Protein Atlas
ENSG00000127884

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K07511
Name
enoyl-CoA hydratase [EC:4.2.1.17]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 92 in total
DO ID Disease Name Source
DOID:0014667 disease of metabolism
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050429 Hailey-Hailey disease
DOID:0050572 cone-rod dystrophy
DOID:0050700 cardiomyopathy
DOID:0050741 alcohol dependence
DOID:0050835 generalized dystonia
DOID:0050841 focal hand dystonia
DOID:0060215 Balo concentric sclerosis
DOID:0060260 ptosis
The Human Phenotype Ontology
Displaying entries 11 - 20 of 25 in total
HPO ID HPO Term
HP:0001639 Hypertrophic cardiomyopathy
HP:0001662 Bradycardia
HP:0002033 Poor suck
HP:0002104 Apnea
HP:0002151 Increased circulating lactate concentration
HP:0002490 Increased CSF lactate
HP:0002878 Respiratory failure
HP:0002928 Decreased activity of the pyruvate dehydrogenase complex
HP:0003577 Congenital onset
HP:0007366 Atrophy/Degeneration affecting the brainstem
Displaying 1 entry
Disease ID Disease Name
OMIM:616277
  • mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001829
Gene Name
enoyl CoA hydratase, short chain, 1, mitochondrial

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024