ECH1 (enoyl-CoA hydratase 1)

2014-11-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
HPXEL
FUSION GENES

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

Pathways

PathwaySourceExternal ID
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
75580271995Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase.7
166158662006Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue.3

Citation

Dessen P

ECH1 (enoyl-CoA hydratase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62713/ech1