ETHE1 (ETHE1 persulfide dioxygenase)

2014-11-01  

Identity

HGNC
LOCATION
19q13.31
LOCUSID
ALIAS
HSCO,YF13H12
FUSION GENES

Other Information

Locus ID:

NCBI: 23474
MIM: 608451
HGNC: 23287
Ensembl: ENSG00000105755

Variants:

dbSNP: 23474
ClinVar: 23474
TCGA: ENSG00000105755
COSMIC: ETHE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105755ENST00000292147O95571
ENSG00000105755ENST00000292147A0A0S2Z5B3
ENSG00000105755ENST00000594342M0QY80
ENSG00000105755ENST00000598330M0QY80
ENSG00000105755ENST00000600651M0QXB5
ENSG00000105755ENST00000602138M0QX80

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Sulfur metabolismKEGGko00920
Sulfur metabolismKEGGhsa00920
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Sulfur amino acid metabolismREACTOMER-HSA-1614635
Degradation of cysteine and homocysteineREACTOMER-HSA-1614558
Sulfide oxidation to sulfateREACTOMER-HSA-1614517

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191369632009Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.116
147329032004Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.54
231444592012Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism.49
169290962006Structure of an ETHE1-like protein from Arabidopsis thaliana.23
161837992006ETHE1 mutations are specific to ethylmalonic encephalopathy.21
185938702008Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
277424792016Protein polysulfidation-dependent persulfide dioxygenase activity of ethylmalonic encephalopathy protein 1.8
209789412010Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.6
251981622014Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre.6

Citation

Dessen P

ETHE1 (ETHE1 persulfide dioxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62929/ethe1