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ETHE1 Gene

protein-coding   GIFtS: 63
GCID: GC19M044010

Ethylmalonic Encephalopathy 1

  See ETHE1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ethylmalonic Encephalopathy 11 2     Persulfide Dioxygenase ETHE1, Mitochondrial2
HSCO2 3 5     Protein ETHE1, Mitochondrial2
Ethylmalonic Encephalopathy Protein 12 3     EC 1.13.11.183
Hepatoma Subtracted Clone One Protein2 3     D831985
Sulfur Dioxygenase ETHE12 3     EC 3.1.2.68
YF13H122     

External Ids:    HGNC: 232871   Entrez Gene: 234742   Ensembl: ENSG000001057557   OMIM: 6084515   UniProtKB: O955713   

Export aliases for ETHE1 gene to outside databases

Previous GC identifers: GC19M048702 GC19M040440


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include sulfur dioxygenase activity and iron ion binding. An important paralog of this gene is PNKD.

UniProtKB/Swiss-Prot: ETHE1_HUMAN, O95571
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)

Gene Wiki entry for ETHE1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ETHE1 gene promoter:
         TBP   p53   AP-2gamma   AREB6   Zic1   TFIID   AP-2beta   AP-2alpha   Pax-4a   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidETHE1 promoter sequence
   Search Chromatin IP Primers for ETHE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ETHE1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.31   Ensembl cytogenetic band:  19q13.31   HGNC cytogenetic band: 19q13.32

ETHE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ETHE1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M044010:  view genomic region     (about GC identifiers)

Start:
44,010,871 bp from pter      End:
44,031,396 bp from pter
Size:
20,526 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ETHE1_HUMAN, O95571 (See protein sequence)
Recommended Name: Persulfide dioxygenase ETHE1, mitochondrial precursor  
Size: 254 amino acids; 27873 Da
Cofactor: Binds 1 Fe(2+) ion per subunit
Subunit: Monomer. Interacts with TST. May interact with RELA
Sequence caution: Sequence=AAG09063.1; Type=Erroneous gene model prediction;
Secondary accessions: Q96HR0 Q9H001

Explore the universe of human proteins at neXtProt for ETHE1: NX_O95571

Explore proteomics data for ETHE1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys66
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ETHE1 (O95571)
     MAFTGDA  LIRGCGRTDFQ 


    See ETHE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055112.2  
    ENSEMBL proteins: 
     ENSP00000292147   ENSP00000469652   ENSP00000469037   ENSP00000469219   ENSP00000468964  
    Reactome Protein details: O95571

    ETHE1 Human Recombinant Protein Products:

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    Novus Biologicals ETHE1 Proteins
    Novus Biologicals ETHE1 Lysates
    Sino Biological Recombinant Protein for ETHE1
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    LSBio Antibodies in human, mouse, rat for ETHE1

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    Search eBioscience for ELISAs for ETHE1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001279 Beta-lactamas-like

    Graphical View of Domain Structure for InterPro Entry O95571

    ProtoNet protein and cluster: O95571

    UniProtKB/Swiss-Prot: ETHE1_HUMAN, O95571
    Similarity: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family


    Find genes that share domains with ETHE1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ETHE1_HUMAN, O95571
    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)
    Catalytic activity: Sulfur + O(2) + H(2)O = sulfite + 2 H(+)
    Enzyme regulation: Glutathione increases enzyme activity
    Biophysicochemical properties: Kinetic parameters: KM=0.34 mM for glutathione persulfide (GSSH); Vmax=113
    umol/min/mg enzyme (in the presence of equimolar amounts of GSSH and GSH and at 22 degrees Celsius);

         Enzyme Numbers (IUBMB): EC 1.13.11.181 EC 3.1.2.62

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IDA--
    GO:0016787hydrolase activity IEA--
    GO:0050313sulfur dioxygenase activity TAS--
         
    Find genes that share ontologies with ETHE1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ETHE1:
     Decreased homologous recombina  Decreased p24 protein expressi 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ethe1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  renal/urinary system 

    Find genes that share phenotypes with ETHE1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ethe1tm1.1Zev for ETHE1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ETHE1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ETHE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ETHE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ETHE1

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    Sino Biological Human cDNA Clone for ETHE1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ETHE1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETHE1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ETHE1_HUMAN, O95571: 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: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with ETHE1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ETHE1 About    
    See pathways by source

    SuperPathContained pathways About
    1Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    Sulfide oxidation to sulfate0.00
    Degradation of cysteine and homocysteine0.00
    2Metabolism
    Metabolism0.38
    3Sulfur metabolism
    Sulfur metabolism
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives


    Find genes that share SuperPaths with ETHE1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ETHE1
        Sulfide oxidation to sulfate


    1 Kegg Pathway  (Kegg details for ETHE1):
        Sulfur metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ETHE1
    Interactions:

        Search GeneGlobe Interaction Network for ETHE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for ETHE1 (O955712, 3 ENSP000002921474) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGSF21Q96ID52, 3MINT-63312 I2D: score=4 
    LRIF1Q5T3J32, 3MINT-63313 I2D: score=4 
    ATP6V1HQ9UI122, 3, ENSP000003525224MINT-63314 I2D: score=4 STRING: ENSP00000352522
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    RELAQ042063, ENSP000003842734I2D: score=3 STRING: ENSP00000384273
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0000098sulfur amino acid catabolic process TAS--
    GO:0006749glutathione metabolic process IDA--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with ETHE1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ETHE1

    1 Novoseek inferred chemical compound relationship for ETHE1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ethylmalonic acid 96 1 16828325 (1)



    Find genes that share compounds with ETHE1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ETHE1 gene: 
    NM_014297.3  

    Unigene Cluster for ETHE1:

    Ethylmalonic encephalopathy 1
    Hs.7486  [show with all ESTs]
    Unigene Representative Sequence: CB993249
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000292147(uc002owp.3 uc010eiu.1) ENST00000594342 ENST00000600651
    ENST00000598330 ENST00000602138 ENST00000595115
    miRNA
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ETHE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ETHE1
      QuantiTect SYBR Green Assays in human, mouse, rat ETHE1
      QuantiFast Probe-based Assays in human, mouse, rat ETHE1

    Additional mRNA sequence: 

    AK309880.1 AK315346.1 BC008250.1 D83198.2 

    6 DOTS entries:

    DT.444044  DT.100771888  DT.100774728  DT.121435284  DT.95191486  DT.97842934 

    Selected AceView cDNA sequences (see all 169):

    BG232032 BG199821 AI360051 BQ637811 BQ012440 AI202673 BM797323 AJ430441 
    AI273687 AA327583 CF530010 CB046809 AW135116 CD671716 AA970945 AA468676 
    CD671717 BQ681019 BG749847 C02250 BU175633 NM_014297 BI518370 T25510 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ETHE1    About this scheme

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


    ECgene alternative splicing isoforms for ETHE1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ETHE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCTGTGGGG
    ETHE1 Expression
    About this image


    ETHE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Colon (Gastrointestinal Tract)
    ETHE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ETHE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7486

    UniProtKB/Swiss-Prot: ETHE1_HUMAN, O95571
    Tissue specificity: Ubiquitously expressed

        Custom PCR Arrays for ETHE1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETHE1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ETHE1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ethe11 , 5 ethylmalonic encephalopathy 11, 5 84.52(n)1
    90.87(a)1
      7 (11.66 cM)5
    660711  NM_023154.31  NP_075643.11 
     245875435 
    chicken
    (Gallus gallus)
    Aves ETHE11 ethylmalonic encephalopathy 1 64.26(n)
    68.47(a)
      426450  XM_424095.4  XP_424095.4 
    lizard
    (Anolis carolinensis)
    Reptilia ETHE16
    ethylmalonic encephalopathy 1
    68(a)
    1 ↔ 1
    LGf(1087777-1103300)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041511.12   -- 76.37(n)    BC041511.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ethe11 ethylmalonic encephalopathy 1 63.73(n)
    66.96(a)
      405865  NM_212929.1  NP_998094.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG300221 CG30022 58.76(n)
    58.9(a)
      36233  NM_165830.2  NP_725047.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ethe-11 ethe-1 53.65(n)
    53.95(a)
      177783  NM_069283.5  NP_501684.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GLO26
    GLO46
    Cytoplasmic glyoxalase II, catalyzes the hydrolysi...
    Mitochondrial glyoxalase II, catalyzes the hydroly...
    19(a)
    18(a)
    many ↔ many
    many ↔ many
    IV(1009010-1009834) YDR272W
    XV(407064-407921) YOR040W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GLY31 GLY3 53.74(n)
    60(a)
      841793  NM_104236.4  NP_564636.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g06672001 Os01g0667200 57.88(n)
    60.67(a)
      4326319  NM_001050342.1  NP_001043807.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ETHE1 gene
    PNKD2  HAGHL2  HAGH2  

    Find genes that share paralogs with ETHE1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ETHE1 (see all 553)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289402891,2,,4
    CEthylmalonic encephalopathy (EE)4 pathogenic144205442(-) GTGGGC/TGGACA 2 R W mis1 ese31Minor allele frequency- T:0.00NA 4552
    VAR_0233954
    Ethylmalonic encephalopathy (EE)4--see VAR_0233952 Y C mis40--------
    VAR_0233964
    Ethylmalonic encephalopathy (EE)4--see VAR_0233962 T A mis40--------
    VAR_0695094
    Ethylmalonic encephalopathy (EE)4--see VAR_0695092 R Q mis40--------
    VAR_0233984
    Ethylmalonic encephalopathy (EE)4--see VAR_0233982 L R mis40--------
    VAR_0695084
    Ethylmalonic encephalopathy (EE)4--see VAR_0695082 T I mis40--------
    VAR_0695114
    Ethylmalonic encephalopathy (EE)4--see VAR_0695112 D N mis40--------
    VAR_0695104
    Ethylmalonic encephalopathy (EE)4--see VAR_0695102 T K mis40--------
    VAR_0695074
    Ethylmalonic encephalopathy (EE)4--see VAR_0695072 L P mis40--------
    rs72481181,2
    C--44011767(+) cagacA/Ccagga 1 -- int10--------

    HapMap Linkage Disequilibrium report for ETHE1 (44010871 - 44031396 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ETHE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661743CNV Deletion23128226
    esv1297424CNV Insertion17803354
    nsv513529CNV Insertion21212237
    esv2584150CNV Insertion19546169
    nsv912107CNV Loss21882294
    nsv137943CNV Loss16902084

    Human Gene Mutation Database (HGMD): ETHE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ETHE1
    DNA2.0 Custom Variant and Variant Library Synthesis for ETHE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608451   
    OMIM disorders: 602473  
    UniProtKB/Swiss-Prot: ETHE1_HUMAN, O95571
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for ETHE1:    
    About MalaCards
    ethylmalonic encephalopathy


    Find genes that share disorders with ETHE1           About GenesLikeMe

    2 Novoseek inferred disease relationships for ETHE1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    encephalopathy, ethylmalonic 99.1 6 16183799 (2), 18593870 (1), 18656261 (1), 16929096 (1) (see all 5)
    hepatocellular carcinoma 23.1 3 17353187 (2), 12398897 (1)

    Genetic Association Database (GAD): ETHE1
    Human Genome Epidemiology (HuGE) Navigator: ETHE1 (2 documents)

    Export disorders for ETHE1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ETHE1 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with ETHE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. (PubMed id 19136963)1, 2, 3 Tiranti V....Zeviani M. (Nat. Med. 2009)
    2. A novel protein overexpressed in hepatoma accelerates export of NF- kappa B from the nucleus and inhibits p53-dependent apoptosis. (PubMed id 12398897)1, 2, 9 Higashitsuji H.... Fujita J. (Cancer Cell 2002)
    3. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. (PubMed id 14732903)1, 2, 9 Tiranti V.... Zeviani M. (Am. J. Hum. Genet. 2004)
    4. Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. (PubMed id 18593870)1, 2, 9 Mineri R.... Tiranti V. (J. Med. Genet. 2008)
    5. Characterization of patient mutations in human persulfide dioxygenase (ETHE1) involved in H2S catabolism. (PubMed id 23144459)1, 2 Kabil O. and Banerjee R. (J. Biol. Chem. 2012)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    9. Enhanced deacetylation of p53 by the anti-apoptotic protein HSCO in association with histone deacetylase 1. (PubMed id 17353187)1, 9 Higashitsuji H....Fujita J. (J. Biol. Chem. 2007)
    10. ETHE1 mutations are specific to ethylmalonic encephalopathy. (PubMed id 16183799)1, 9 Tiranti V....Zeviani M. (J. Med. Genet. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23474 HGNC: 23287 AceView: ETHE1 Ensembl:ENSG00000105755 euGenes: HUgn23474
    ECgene: ETHE1 Kegg: 23474 H-InvDB: ETHE1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ETHE1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ETHE1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ETHE1 gene:
    Search GeneIP for patents involving ETHE1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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