InnateDB Protein
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IDBP-55227.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ETHE1
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Protein Name
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ethylmalonic encephalopathy 1
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Synonyms
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HSCO; YF13H12;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000292147
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InnateDB Gene
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IDBG-55225 (ETHE1)
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Protein Structure
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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}.
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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.
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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.
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Tissue Specificity |
Ubiquitously expressed. {ECO:0000269PubMed:14732903}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001279
Beta-lactamase-like
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PFAM |
PF00753
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PRINTS |
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PIRSF |
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SMART |
SM00849
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TIGRFAMs |
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Modification |
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SwissProt |
O95571
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PhosphoSite |
PhosphoSite-O95571
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TrEMBL |
B2RCZ7
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UniProt Splice Variant |
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Entrez Gene |
23474
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UniGene |
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RefSeq |
NP_055112
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HUGO |
HGNC:23287
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OMIM |
608451
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CCDS |
CCDS12622
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HPRD |
09764
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IMGT |
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EMBL |
AC018758
AK315346
BC008250
CH471126
D83198
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GenPept |
AAG09063
AAH08250
BAA34595
BAG37744
EAW57195
EAW57197
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