Identity
HGNC
LOCATION
19q13.31
LOCUSID
ALIAS
HSCO,YF13H12
FUSION GENES
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: 23474
MIM: 608451
HGNC: 23287
Ensembl: ENSG00000105755
Variants:
dbSNP: 23474
ClinVar: 23474
TCGA: ENSG00000105755
COSMIC: ETHE1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33274826 | 2021 | Ethylmalonic encephalopathy 1 initiates overactive autophagy in depleted uranium-induced cytotoxicity in the human embryonic kidney 293 cells. | 1 |
| 33639274 | 2021 | Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome. | 1 |
| 33274826 | 2021 | Ethylmalonic encephalopathy 1 initiates overactive autophagy in depleted uranium-induced cytotoxicity in the human embryonic kidney 293 cells. | 1 |
| 33639274 | 2021 | Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome. | 1 |
| 30391543 | 2019 | Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria. | 6 |
| 31477743 | 2019 | ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. | 14 |
| 30391543 | 2019 | Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria. | 6 |
| 31477743 | 2019 | ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. | 14 |
| 27074420 | 2016 | Untargeted Metabolomics Analysis Reveals a Link between ETHE1-Mediated Disruptive Redox State and Altered Metabolic Regulation. | 5 |
| 27742479 | 2016 | Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1. | 22 |
| 27074420 | 2016 | Untargeted Metabolomics Analysis Reveals a Link between ETHE1-Mediated Disruptive Redox State and Altered Metabolic Regulation. | 5 |
| 27742479 | 2016 | Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1. | 22 |
| 25198162 | 2014 | Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. | 9 |
| 25198162 | 2014 | Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. | 9 |
| 23144459 | 2012 | Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism. | 74 |
Citation
Dessen P
ETHE1 (ETHE1 persulfide dioxygenase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62929/ethe1-(ethe1-persulfide-dioxygenase)
