ETHE1
entrez
23474
canonical
uniprot
O95571
canonical
ensembl
ENSG00000105755
resolver
ensp
ENSP00000292147
resolver
ensp
ENSP00000550180
resolver
ensp
ENSP00000550183
resolver
enst
ENST00000292147
resolver
genesymbol
ETHE1
resolver
genesymbol_syn
HSCO
resolver
hgnc
HGNC:23287
resolver
uniprot
A0A0S2Z580
resolver
uniprot
A0A0S2Z5B3
resolver
uniprot
A0A0S2Z5N8
resolver
uniprot
B2RCZ7
resolver
uniprot
Q96HR0
resolver
uniprot
Q9H001
resolver
uniprot_entry
A0A0S2Z580_HUMAN
resolver
uniprot_entry
A0A0S2Z5B3_HUMAN
resolver
uniprot_entry
A0A0S2Z5N8_HUMAN
resolver
uniprot_entry
B2RCZ7_HUMAN
resolver
uniprot_entry
ETHE1_HUMAN
resolver
uniprot_sec
Q96HR0
resolver
uniprot_sec
Q9H001
resolver
activity_regulation
ACTIVITY REGULATION: Glutathione increases enzyme activity. {ECO:0000269|PubMed:23144459}.
uniprot
proteins
amino_acid_sequence
MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:14732903, ECO:0000269|PubMed:18593870, ECO:0000269|PubMed:23144459, ECO:0000269|PubMed:31477743}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.13.11.18
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
27873
uniprot
proteins
protein_family
Glyoxalase II family
uniprot
proteins
protein_family
Metallo-beta-lactamase superfamily
uniprot
proteins
pubmed
12398897
uniprot
proteins
pubmed
14732903
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18593870
uniprot
proteins
pubmed
19136963
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23144459
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25596185
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31477743
uniprot
proteins
sequence_length
254
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12398897}. Nucleus {ECO:0000269|PubMed:12398897}. Mitochondrion matrix {ECO:0000269|PubMed:14732903}.
uniprot
proteins