ECH1 (enoyl-CoA hydratase 1)

2014-11-01  

Identity

HGNC
ECH1
LOCATION
19q13.2
LOCUSID
1891
ALIAS
HPXEL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1891
MIM: 600696
HGNC: 3149
Ensembl: ENSG00000104823

Variants:

dbSNP: 1891
ClinVar: 1891
TCGA: ENSG00000104823
COSMIC: ECH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104823ENST00000221418Q13011
ENSG00000104823ENST00000221418A0A384MR44
ENSG00000104823ENST00000594164M0QZX8
ENSG00000104823ENST00000595470M0QZW4
ENSG00000104823ENST00000595567M0R280
ENSG00000104823ENST00000597205M0R1A2
ENSG00000104823ENST00000601094M0QXS7
ENSG00000104823ENST00000601778M0R248
ENSG00000104823ENST00000602115M0QZF6

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
338138782021Enoyl coenzyme A hydratase 1 alleviates nonalcoholic steatohepatitis in mice by suppressing hepatic ferroptosis.21
338138782021Enoyl coenzyme A hydratase 1 alleviates nonalcoholic steatohepatitis in mice by suppressing hepatic ferroptosis.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
166158662006Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue.4
166158662006Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue.4
75580271995Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase.8
75580271995Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase.8

Citation

Dessen P

ECH1 (enoyl-CoA hydratase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62713/ech1-(enoyl-coa-hydratase-1)