ECHS1 (enoyl-CoA hydratase, short chain 1)

2014-03-01  

Identity

HGNC
LOCATION
10q26.3
LOCUSID
ALIAS
ECHS1D,SCEH
FUSION GENES

Other Information

Locus ID:

NCBI: 1892
MIM: 602292
HGNC: 3151
Ensembl: ENSG00000127884

Variants:

dbSNP: 1892
ClinVar: 1892
TCGA: ENSG00000127884
COSMIC: ECHS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127884ENST00000368547P30084

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Lysine degradationKEGGko00310
Tryptophan metabolismKEGGko00380
beta-Alanine metabolismKEGGko00410
Propanoate metabolismKEGGko00640
Butanoate metabolismKEGGko00650
Fatty acid elongationKEGGhsa00062
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Lysine degradationKEGGhsa00310
Tryptophan metabolismKEGGhsa00380
beta-Alanine metabolismKEGGhsa00410
Propanoate metabolismKEGGhsa00640
Butanoate metabolismKEGGhsa00650
Metabolic pathwaysKEGGhsa01100
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGhsa_M00032
Fatty acid biosynthesis, elongation, mitochondriaKEGGhsa_M00085
beta-OxidationKEGGhsa_M00087
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGhsa_M00013
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGM00013
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGM00032
Fatty acid biosynthesis, elongation, mitochondriaKEGGM00085
beta-OxidationKEGGM00087
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acidsREACTOMER-HSA-77286
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoAREACTOMER-HSA-77310
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoAREACTOMER-HSA-77346
Beta oxidation of octanoyl-CoA to hexanoyl-CoAREACTOMER-HSA-77348
Beta oxidation of hexanoyl-CoA to butanoyl-CoAREACTOMER-HSA-77350
Beta oxidation of butanoyl-CoA to acetyl-CoAREACTOMER-HSA-77352

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
251256112014ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.27
253937212015ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.19
260993132015Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.18
262511762015Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
173952782007Suppression of virus replication via down-modulation of mitochondrial short chain enoyl-CoA hydratase in human glioblastoma cells.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
231784492013ECHS1 acts as a novel HBsAg-binding protein enhancing apoptosis through the mitochondrial pathway in HepG2 cells.10
270907682016Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.10

Citation

Dessen P

ECHS1 (enoyl-CoA hydratase, short chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53815/echs1-(enoyl-coa-hydratase-short-chain-1)