ETHE1

Protein identityUniProt · HPA

UniProt accession

O95571

Gene

ETHE1

Ensembl

ENSG00000105755

Chromosome

19

Canonical length

254 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

Canonical amino-acid sequenceUniProt

254 residues, UniProt reviewed canonical sequence.

>O95571|ETHE1
     1  MAEAVLRVAR RQLSQRGGSG APILLRQMFE PVSCTFTYLL GDRESREAVL IDPVLETAPR
    61  DAQLIKELGL RLLYAVNTHC HADHITGSGL LRSLLPGCQS VISRLSGAQA DLHIEDGDSI
   121  RFGRFALETR ASPGHTPGCV TFVLNDHSMA FTGDALLIRG CGRTDFQQGC AKTLYHSVHE
   181  KIFTLPGDCL IYPAHDYHGF TVSTVEEERT LNPRLTLSCE EFVKIMGNLN LPKPQQIDFA
   241  VPANMRCGVQ TPTA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ETHE1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

240 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ETHE1.

Disease | AllUniProt

Conditions ETHE1 is implicated in, by any mechanism.

• Ethylmalonic encephalopathy (EE) MIM:602473

Disease | GeneticClinVar

99 pathogenic / likely-pathogenic of 476 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ethylmalonic encephalopathy
• Abnormality of the nervous system

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.46

gnomAD pLI

0

gnomAD missense Z

0.96

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glutathione metabolic process
• hydrogen sulfide metabolic process

Molecular functions

• identical protein binding
• iron ion binding
• sulfur dioxygenase activity

Cellular components

• cytoplasm
• mitochondrial matrix
• mitochondrion
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• Metallo-beta-lactamase
• Ribonuclease Z/Hydroxyacylglutathione hydrolase-like
• Metallo-beta-lactamase superfamily
• Persulfide dioxygenase-like, MBL-fold metallo-hydrolase domain
• Mitochondrial Persulfide Dioxygenase

KeywordsUniProt

• Acetylation
• Cytoplasm
• Dioxygenase
• Iron
• Metal-binding
• Mitochondrion
• Nucleus
• Oxidoreductase
• Phosphoprotein
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of ETHE1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TST