| Gene Symbol |
ETHE1
|
| Entrez Gene |
23474
|
| Alt Symbol |
HSCO, YF13H12
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ethylmalonic encephalopathy 1
|
| Other Description |
ethylmalonic encephalopathy protein 1|hepatoma subtracted clone one protein|persulfide dioxygenase ETHE1, mitochondrial|protein ETHE1, mitochondrial|sulfur dioxygenase ETHE1
|
| Swissprots |
Q96HR0 Q9H001 O95571
|
| Accessions |
AAG09063 EAW57195 EAW57196 EAW57197 O95571 AI879202 AK309880 AK315346 BAG37744 AM392804 CAL37682 BC008250 AAH08250 D83198 BAA34595 XM_005258687 XP_005258744 XM_005258688 XP_005258745 XM_011526685 XP_011524987 NM_014297 NP_055112
|
| 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:0000269|PubMed:12398897, ECO:0000269|PubMed:14732903, ECO:0000269|PubMed:19136963, ECO:0000269|PubMed:23144459}.
|
| Subcellular Location |
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.
|
| Tissue Specificity |
Ubiquitously expressed. {ECO:0000269|PubMed:14732903}.
|
| Top Pathways |
Sulfur metabolism
|