Entity Details

Primary name ETHE1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO95571
EntryNameETHE1_HUMAN
FullNamePersulfide dioxygenase ETHE1, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length254
SequenceStatuscomplete
DateCreated2005-08-30
DateModified2021-06-02

Ontological Relatives

GenesETHE1

GO terms

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GOName
GO:0005506 iron ion binding
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006749 glutathione metabolic process
GO:0016788 hydrolase activity, acting on ester bonds
GO:0042802 identical protein binding
GO:0050313 sulfur dioxygenase activity
GO:0070221 sulfide oxidation, using sulfide:quinone oxidoreductase
GO:0070813 hydrogen sulfide metabolic process

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion matrix
Nucleus

Domains

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DomainNameCategoryType
IPR001279 Metallo-beta-lactamaseDomainDomain
IPR036866 Ribonuclease Z/Hydroxyacylglutathione hydrolase-likeFamilyHomologous superfamily
IPR044528 Persulfide dioxygenase-like, MBL-fold metallo-hydrolase domainDomainDomain

Diseases

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Disease IDSourceNameDescription
602473 OMIMEthylmalonic encephalopathy (EE)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. The disease is caused by variants affecting the gene represented in this entry.