InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ETHE1

Summary

InnateDB Protein

IDBP-55227.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ETHE1

Protein Name

ethylmalonic encephalopathy 1

Synonyms

HSCO; YF13H12;

Species

Homo sapiens

Ensembl Protein

ENSP00000292147

InnateDB Gene

IDBG-55225 (ETHE1)

Protein Structure

UniProt Annotation

Function

Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897). {ECO:0000269PubMed:12398897, ECO:0000269PubMed:14732903, ECO:0000269PubMed:19136963, ECO:0000269PubMed:23144459}.

Subcellular Localization

Cytoplasm. Nucleus. Mitochondrion matrix. Note=According to PubMed:12398897, it is cytoplasmic and nuclear. According to PubMed:14732903, it is found in the mitochondrial matrix.

Disease Associations

Ethylmalonic encephalopathy (EE) [MIM:602473]: Autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria. {ECO:0000269PubMed:14732903, ECO:0000269PubMed:18593870}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:14732903}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0016787	hydrolase activity
GO:0050313	sulfur dioxygenase activity

Biological Process

GO:0000096	sulfur amino acid metabolic process
GO:0000098	sulfur amino acid catabolic process
GO:0006749	glutathione metabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0044281	small molecule metabolic process
GO:0070221	sulfide oxidation, using sulfide:quinone oxidoreductase
GO:0070813	hydrogen sulfide metabolic process