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Aliases for ETHE1 Gene

Aliases for ETHE1 Gene

  • ETHE1, Persulfide Dioxygenase 2 3
  • Ethylmalonic Encephalopathy 1 2 3 5
  • Hepatoma Subtracted Clone One Protein 3 4
  • Sulfur Dioxygenase ETHE1 3 4
  • HSCO 3 4
  • Ethylmalonic Encephalopathy Protein 1 4
  • Protein ETHE1, Mitochondrial 3
  • EC 1.13.11.18 4
  • EC 3.1.2.6 63
  • YF13H12 3

External Ids for ETHE1 Gene

Previous GeneCards Identifiers for ETHE1 Gene

  • GC19M048702
  • GC19M044010
  • GC19M040440

Summaries for ETHE1 Gene

Entrez Gene Summary for ETHE1 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]

GeneCards Summary for ETHE1 Gene

ETHE1 (ETHE1, Persulfide Dioxygenase) is a Protein Coding gene. Diseases associated with ETHE1 include ethylmalonic encephalopathy and encephalopathy. Among its related pathways are Metabolism and Viral mRNA Translation. GO annotations related to this gene include iron ion binding and sulfur dioxygenase activity. An important paralog of this gene is HAGH.

UniProtKB/Swiss-Prot for ETHE1 Gene

  • 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).

Gene Wiki entry for ETHE1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETHE1 Gene

Genomics for ETHE1 Gene

Regulatory Elements for ETHE1 Gene

Promoters for ETHE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ETHE1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ETHE1 Gene

Chromosome:
19
Start:
43,506,719 bp from pter
End:
43,527,244 bp from pter
Size:
20,526 bases
Orientation:
Minus strand

Genomic View for ETHE1 Gene

Genes around ETHE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETHE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETHE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETHE1 Gene

Proteins for ETHE1 Gene

  • Protein details for ETHE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95571-ETHE1_HUMAN
    Recommended name:
    Persulfide dioxygenase ETHE1, mitochondrial
    Protein Accession:
    O95571
    Secondary Accessions:
    • Q96HR0
    • Q9H001

    Protein attributes for ETHE1 Gene

    Size:
    254 amino acids
    Molecular mass:
    27873 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    • Monomer. Interacts with TST. May interact with RELA.
    SequenceCaution:
    • Sequence=AAG09063.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ETHE1 Gene

neXtProt entry for ETHE1 Gene

Proteomics data for ETHE1 Gene at MOPED

Selected DME Specific Peptides for ETHE1 Gene

Post-translational modifications for ETHE1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for ETHE1 Gene

Protein Domains for ETHE1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O95571

UniProtKB/Swiss-Prot:

ETHE1_HUMAN :
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Family:
  • Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
genes like me logo Genes that share domains with ETHE1: view

No data available for Gene Families for ETHE1 Gene

Function for ETHE1 Gene

Molecular function for ETHE1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.34 mM for glutathione persulfide (GSSH) {ECO:0000269 PubMed:23144459}; Vmax=113 umol/min/mg enzyme (in the presence of equimolar amounts of GSSH and GSH and at 22 degrees Celsius) {ECO:0000269 PubMed:23144459};
UniProtKB/Swiss-Prot CatalyticActivity:
S-sulfanylglutathione + O(2) + H(2)O = glutathione + sulfite + 2 H(+).
UniProtKB/Swiss-Prot EnzymeRegulation:
Glutathione increases enzyme activity.
UniProtKB/Swiss-Prot 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).

Enzyme Numbers (IUBMB) for ETHE1 Gene

genes like me logo Genes that share phenotypes with ETHE1: view

Human Phenotype Ontology for ETHE1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ETHE1 Gene

MGI Knock Outs for ETHE1:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for ETHE1 Gene

Localization for ETHE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETHE1 Gene

Cytoplasm. Nucleus. Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ETHE1 Gene COMPARTMENTS Subcellular localization image for ETHE1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ETHE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ETHE1: view

Pathways & Interactions for ETHE1 Gene

genes like me logo Genes that share pathways with ETHE1: view

Interacting Proteins for ETHE1 Gene

Gene Ontology (GO) - Biological Process for ETHE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000098 sulfur amino acid catabolic process TAS --
genes like me logo Genes that share ontologies with ETHE1: view

No data available for SIGNOR curated interactions for ETHE1 Gene

Drugs & Compounds for ETHE1 Gene

(1) Additional Compounds for ETHE1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ETHE1: view

Transcripts for ETHE1 Gene

Unigene Clusters for ETHE1 Gene

Ethylmalonic encephalopathy 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ETHE1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: - -
SP2: - - -
SP3: - -
SP4:
SP5: -

Relevant External Links for ETHE1 Gene

GeneLoc Exon Structure for
ETHE1
ECgene alternative splicing isoforms for
ETHE1

Expression for ETHE1 Gene

mRNA expression in normal human tissues for ETHE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETHE1 Gene

This gene is overexpressed in Colon - Transverse (x8.6).

Protein differential expression in normal tissues from HIPED for ETHE1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ETHE1 Gene



SOURCE GeneReport for Unigene cluster for ETHE1 Gene Hs.7486

mRNA Expression by UniProt/SwissProt for ETHE1 Gene

O95571-ETHE1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with ETHE1: view

Protein tissue co-expression partners for ETHE1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ETHE1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETHE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ETHE1 36
  • 100 (a)
OneToOne
ETHE1 35
  • 99.56 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia ETHE1 36
  • 91 (a)
OneToOne
ETHE1 35
  • 89.02 (n)
  • 91.27 (a)
dog
(Canis familiaris)
Mammalia ETHE1 35
  • 90.87 (n)
  • 93.65 (a)
ETHE1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ethe1 36
  • 90 (a)
OneToOne
Ethe1 16
Ethe1 35
  • 84.52 (n)
  • 90.87 (a)
rat
(Rattus norvegicus)
Mammalia Ethe1 35
  • 83.73 (n)
  • 88.89 (a)
chicken
(Gallus gallus)
Aves ETHE1 36
  • 67 (a)
OneToOne
ETHE1 35
  • 64.26 (n)
  • 68.47 (a)
lizard
(Anolis carolinensis)
Reptilia ETHE1 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ethe1 35
  • 65.33 (n)
  • 66.8 (a)
zebrafish
(Danio rerio)
Actinopterygii ethe1 35
  • 63.73 (n)
  • 66.96 (a)
ethe1 36
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003337 35
  • 57.59 (n)
  • 55.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30022 36
  • 51 (a)
OneToOne
CG30022 35
  • 58.76 (n)
  • 58.9 (a)
worm
(Caenorhabditis elegans)
Secernentea ethe-1 36
  • 51 (a)
OneToOne
ethe-1 35
  • 53.65 (n)
  • 53.95 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLO2 36
  • 19 (a)
ManyToMany
GLO4 36
  • 18 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9394 35
soybean
(Glycine max)
eudicotyledons Gma.6593 35
thale cress
(Arabidopsis thaliana)
eudicotyledons GLY3 35
  • 53.74 (n)
  • 60 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.2764 35
rice
(Oryza sativa)
Liliopsida Os01g0667200 35
  • 57.88 (n)
  • 60.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 56 (a)
OneToMany
CSA.3242 36
  • 49 (a)
OneToMany
Species with no ortholog for ETHE1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ETHE1 Gene

ENSEMBL:
Gene Tree for ETHE1 (if available)
TreeFam:
Gene Tree for ETHE1 (if available)

Paralogs for ETHE1 Gene

Paralogs for ETHE1 Gene

genes like me logo Genes that share paralogs with ETHE1: view

Variants for ETHE1 Gene

Sequence variations from dbSNP and Humsavar for ETHE1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_023395 Ethylmalonic encephalopathy (EE)
VAR_023396 Ethylmalonic encephalopathy (EE)
rs28940289 Ethylmalonic encephalopathy (EE) 43,511,455(-) GTGGG(C/T)GGACA intron-variant, reference, missense
VAR_023398 Ethylmalonic encephalopathy (EE)
rs182983506 Ethylmalonic encephalopathy (EE) 43,526,577(+) TTTCC(A/G)GGACT reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ETHE1 Gene

Variant ID Type Subtype PubMed ID
nsv137943 CNV Loss 16902084
esv2661743 CNV Deletion 23128226
nsv513529 CNV Insertion 21212237
esv2584150 CNV Insertion 19546169
esv1297424 CNV Insertion 17803354
nsv912107 CNV Loss 21882294

Variation tolerance for ETHE1 Gene

Residual Variation Intolerance Score: 36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ETHE1 Gene

HapMap Linkage Disequilibrium report
ETHE1
Human Gene Mutation Database (HGMD)
ETHE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETHE1 Gene

Disorders for ETHE1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ETHE1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ethylmalonic encephalopathy
  • eme
encephalopathy
  • brain diseases
muscular dystrophy-dystroglycanopathy , type a, 9
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a9
reticulate acropigmentation of kitamura
  • rapk
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
  • cemcox3
- elite association - COSMIC cancer census association via MalaCards
Search ETHE1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ETHE1_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ETHE1

Genetic Association Database (GAD)
ETHE1
Human Genome Epidemiology (HuGE) Navigator
ETHE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ETHE1
genes like me logo Genes that share disorders with ETHE1: view

No data available for Genatlas for ETHE1 Gene

Publications for ETHE1 Gene

  1. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. (PMID: 19136963) Tiranti V. … Zeviani M. (Nat. Med. 2009) 2 3 4 67
  2. Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. (PMID: 18593870) Mineri R. … Tiranti V. (J. Med. Genet. 2008) 3 23
  3. Enhanced deacetylation of p53 by the anti-apoptotic protein HSCO in association with histone deacetylase 1. (PMID: 17353187) Higashitsuji H. … Fujita J. (J. Biol. Chem. 2007) 3 23
  4. Structure of an ETHE1-like protein from Arabidopsis thaliana. (PMID: 16929096) McCoy J.G. … Phillips G.N. (Acta Crystallogr. D Biol. Crystallogr. 2006) 3 23
  5. ETHE1 mutations are specific to ethylmalonic encephalopathy. (PMID: 16183799) Tiranti V. … Zeviani M. (J. Med. Genet. 2006) 3 23

Products for ETHE1 Gene

Sources for ETHE1 Gene

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