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Aliases for ETHE1 Gene

Aliases for ETHE1 Gene

  • Ethylmalonic Encephalopathy 1 2 3
  • HSCO 3 4 6
  • Ethylmalonic Encephalopathy Protein 1 3 4
  • Hepatoma Subtracted Clone One Protein 3 4
  • Sulfur Dioxygenase ETHE1 3 4
  • Persulfide Dioxygenase ETHE1, Mitochondrial 3
  • Protein ETHE1, Mitochondrial 3
  • EC 1.13.11.18 4
  • EC 3.1.2.6 63
  • YF13H12 3
  • D83198 6

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 sulfur dioxygenase that localizes within the mitochondrial matrix. The enzyme functions in sulfide catabolism. Mutations in this gene result in ethylmalonic encephalopathy.[provided by RefSeq, May 2009]

GeneCards Summary for ETHE1 Gene

ETHE1 (Ethylmalonic Encephalopathy 1) is a Protein Coding gene. Diseases associated with ETHE1 include ethylmalonic encephalopathy. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. 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

Genomic Location for ETHE1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Fe(2+) ion per subunit.;
    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

  • Ubiquitination at Lys66
  • Modification sites at PhosphoSitePlus

Other Protein References for ETHE1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ETHE1 Gene

Protein Domains for ETHE1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O95571

UniProtKB/Swiss-Prot:

ETHE1_HUMAN :
  • O95571
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: Sulfur + O(2) + H(2)O = 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

Gene Ontology (GO) - Molecular Function for ETHE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IDA 23144459
GO:0050313 sulfur dioxygenase activity TAS --
genes like me logo Genes that share ontologies with ETHE1: view
genes like me logo Genes that share phenotypes with ETHE1: view

Animal Models for ETHE1 Gene

MGI Knock Outs for ETHE1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ETHE1

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ETHE1 Gene

Localization for ETHE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETHE1 Gene

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.

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:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ETHE1: view

Pathways 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:0000096 sulfur amino acid metabolic process TAS --
GO:0000098 sulfur amino acid catabolic process TAS --
GO:0006749 glutathione metabolic process IDA 23144459
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ETHE1: view

Compounds for ETHE1 Gene

(1) Novoseek inferred chemical compound relationships for ETHE1 Gene

Compound -log(P) Hits PubMed IDs
ethylmalonic acid 96 1
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ETHE1

Primer Products

Flow Cytometry Products

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 (8.6).

Integrated Proteomics: protein expression 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 expressions with ETHE1: view

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 35
  • 99.56 (n)
  • 100 (a)
ETHE1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETHE1 35
  • 89.02 (n)
  • 91.27 (a)
ETHE1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETHE1 35
  • 90.87 (n)
  • 93.65 (a)
ETHE1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ethe1 35
  • 84.52 (n)
  • 90.87 (a)
Ethe1 16
Ethe1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ethe1 35
  • 83.73 (n)
  • 88.89 (a)
chicken
(Gallus gallus)
Aves ETHE1 35
  • 64.26 (n)
  • 68.47 (a)
ETHE1 36
  • 67 (a)
OneToOne
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 35
  • 58.76 (n)
  • 58.9 (a)
CG30022 36
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ethe-1 35
  • 53.65 (n)
  • 53.95 (a)
ethe-1 36
  • 51 (a)
OneToOne
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 MAF
rs2102954 -- 43,525,592(+) GCAAA(G/T)AAAGT intron-variant
rs2203990 -- 43,513,773(-) CTCCA(C/T)CCCAG intron-variant
rs2261316 -- 43,526,846(+) AACTT(C/T)CTAAC intron-variant
rs2305375 -- 43,509,108(+) ACACC(A/G)TGAAG intron-variant
rs2355995 -- 43,512,450(+) ctttt(C/G)ttatg intron-variant

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

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

MalaCards: The human disease database. (1) Diseases for ETHE1 Gene including...

Search for ETHE1 Gene in MalaCards »

(1) OMIM Diseases for ETHE1 Gene (608451)

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.

(2) Novoseek inferred disease relationships for ETHE1 Gene

Disease -log(P) Hits PubMed IDs
encephalopathy, ethylmalonic 99.1 6
hepatocellular carcinoma 23.1 3

Relevant External Links for ETHE1

Genetic Association Database (GAD)
ETHE1
Human Genome Epidemiology (HuGE) Navigator
ETHE1
genes like me logo Genes that share disorders with ETHE1: view

Publications for ETHE1 Gene

  1. A novel protein overexpressed in hepatoma accelerates export of NF- kappa B from the nucleus and inhibits p53-dependent apoptosis. (PMID: 12398897) Higashitsuji H. … Fujita J. (Cancer Cell 2002) 3 4 23
  2. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. (PMID: 14732903) Tiranti V. … Zeviani M. (Am. J. Hum. Genet. 2004) 3 4 23
  3. 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 4 23
  4. 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
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for ETHE1 Gene

Sources for ETHE1 Gene

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