Property Summary

NCBI Gene PubMed Count 34
Grant Count 7
R01 Count 4
Funding $1,216,476.33
PubMed Score 47.07
PubTator Score 27.88

Knowledge Summary


No data available


  Differential Expression (5)

Disease log2 FC p
tuberculosis 1.200 0.000
pancreatic ductal adenocarcinoma liver m... -1.511 0.021
lung cancer 1.400 0.001
interstitial cystitis -1.200 0.000
ovarian cancer 2.000 0.000

 GWAS Trait (1)

Gene RIF (14)

26099313 identification of four additional patients with mutations in ECHS1 highlights the importance of the valine degradation pathway in Leigh syndrome
25760819 These results suggested that ECHS1 may promote cell proliferation in hepatocellular carcinoma in an EGFR-dependent manner.
25739098 In conclusion, the results of the present study suggested that ECHS1 may have an important role in colorectal cancer cell proliferation and migration
25393721 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
25338767 ECHS1 may play important roles in gastric cancer cell proliferation and migration through PKB- and GSK3b-related signaling pathways.
25125611 The study demonstrated that ECHS1 mutations result in ECHS1 deficiency and are another cause of Leigh disease in two siblings.
23879543 ECHS1 knockdown reduced cell viability and enhanced cisplatin-induced apoptosis in hepatocellular carcinoma cells.
23416296 ECHS1 specifically represses STAT3 activity and negatively regulates the expression of several target genes of STAT3 through inhibiting STAT3 phosphorylation.
23275097 The results confirmed that small hepatitis B surface antigen (SHBs) interacted with ECHS1.
23178449 The coexistence of HBs and ECHS1 enhances HepG2 cell apoptosis, affects ECHS1 localization in the mitochondria and induces apoptosis by decreasing the mitochondrial membrane potential (MMP).

AA Sequence

EKRKANFKDQ                                                                281 - 290

Text Mined References (41)

PMID Year Title
27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
26251176 2015 Clinical, 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.
26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25760819 2015 Enoyl-coenzyme A hydratase short chain 1 silencing attenuates the proliferation of hepatocellular carcinoma by inhibiting epidermal growth factor signaling in vitro and in vivo.
25739098 2015 Attenuation of enoyl coenzyme A hydratase 1 expression in colorectal cancer cells using small interfering RNA inhibits cell proliferation and migration.
25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.
25338767 2014 Attenuation of enoyl coenzyme A hydratase short chain 1 expression in gastric cancer cells inhibits cell proliferation and migration in vitro.