ECHS1 (enoyl-CoA hydratase, short chain 1)

2014-03-01 Affiliation

Identity

HGNC

ECHS1

LOCATION

10q26.3

LOCUSID

1892

ALIAS

ECHS1D,SCEH

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000127884	ENST00000368547	P30084

Expression (GTEx)

100

200

300

400

500

600

700

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

Pathway	Source	External ID
Fatty acid elongation	KEGG	ko00062
Fatty acid degradation	KEGG	ko00071
Valine, leucine and isoleucine degradation	KEGG	ko00280
Lysine degradation	KEGG	ko00310
Tryptophan metabolism	KEGG	ko00380
beta-Alanine metabolism	KEGG	ko00410
Propanoate metabolism	KEGG	ko00640
Butanoate metabolism	KEGG	ko00650
Fatty acid elongation	KEGG	hsa00062
Fatty acid degradation	KEGG	hsa00071
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Lysine degradation	KEGG	hsa00310
Tryptophan metabolism	KEGG	hsa00380
beta-Alanine metabolism	KEGG	hsa00410
Propanoate metabolism	KEGG	hsa00640
Butanoate metabolism	KEGG	hsa00650
Metabolic pathways	KEGG	hsa01100
Lysine degradation, lysine => saccharopine => acetoacetyl-CoA	KEGG	hsa_M00032
Fatty acid biosynthesis, elongation, mitochondria	KEGG	hsa_M00085
beta-Oxidation	KEGG	hsa_M00087
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoA	KEGG	hsa_M00013
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoA	KEGG	M00013
Lysine degradation, lysine => saccharopine => acetoacetyl-CoA	KEGG	M00032
Fatty acid biosynthesis, elongation, mitochondria	KEGG	M00085
beta-Oxidation	KEGG	M00087
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Mitochondrial Fatty Acid Beta-Oxidation	REACTOME	R-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acids	REACTOME	R-HSA-77286
Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA	REACTOME	R-HSA-77310
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA	REACTOME	R-HSA-77346
Beta oxidation of octanoyl-CoA to hexanoyl-CoA	REACTOME	R-HSA-77348
Beta oxidation of hexanoyl-CoA to butanoyl-CoA	REACTOME	R-HSA-77350
Beta oxidation of butanoyl-CoA to acetyl-CoA	REACTOME	R-HSA-77352

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38363494	2024	Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.	0
38363494	2024	Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.	0
32677093	2021	Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.	11
33112498	2021	ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.	5
33881965	2021	Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.	9
34615856	2021	ECHS1, an interacting protein of LASP1, induces sphingolipid-metabolism imbalance to promote colorectal cancer progression by regulating ceramide glycosylation.	13
32677093	2021	Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.	11
33112498	2021	ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.	5
33881965	2021	Differentially expressed genes PCCA, ECHS1, and HADH are potential prognostic biomarkers for gastric cancer.	9
34615856	2021	ECHS1, an interacting protein of LASP1, induces sphingolipid-metabolism imbalance to promote colorectal cancer progression by regulating ceramide glycosylation.	13
31690668	2020	Inactivation of the AMPK-GATA3-ECHS1 Pathway Induces Fatty Acid Synthesis That Promotes Clear Cell Renal Cell Carcinoma Growth.	48
31891870	2020	ECHS1 suppresses renal cell carcinoma development through inhibiting mTOR signaling activation.	11
32677908	2020	Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.	6
32858208	2020	Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.	6
31690668	2020	Inactivation of the AMPK-GATA3-ECHS1 Pathway Induces Fatty Acid Synthesis That Promotes Clear Cell Renal Cell Carcinoma Growth.	48

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/case-report-explorer/js/css/card-gene.css