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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ETHE1 Gene

protein-coding   GIFtS: 62
GCID: GC19M044010

Ethylmalonic Encephalopathy 1

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         
NONCODE14:n338691      

Export aliases for ETHE1 gene to outside databases

Previous GC identifers: GC19M048702 GC19M040440


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with ETHE1 include ethylmalonic encephalopathy, and diarrhea, and among its related super-pathways are Sulfide oxidation to sulfate and Metabolic pathways. GO annotations related to this gene include hydrolase activity and sulfur dioxygenase activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ETHE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95571

  • 2 DME Specific Peptides for ETHE1 (O95571)
     MAFTGDA  LIRGCGRTDFQ 

    ETHE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ETHE1 Protein Expression
    REFSEQ proteins: NP_055112.2  
    ENSEMBL proteins: 
     ENSP00000292147   ENSP00000469652   ENSP00000469037   ENSP00000469219   ENSP00000468964  
    Reactome Protein details: O95571
    Human Recombinant Protein Products for ETHE1: 
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    OriGene Purified Protein for ETHE1
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    Novus Biologicals ETHE1 Proteins
    Novus Biologicals ETHE1 Lysates
    Sino Biological Recombinant Protein for ETHE1
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ETHE1
    Cloud-Clone Corp. Proteins for ETHE1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--

    ETHE1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    ETHE1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IDA--
    GO:0016787hydrolase activity IEA--
    GO:0050313sulfur dioxygenase activity TAS--
         
    ETHE1 for ontologies           About GeneDecksing


    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  homeostasis/metabolism  mortality/aging  renal/urinary system 

    ETHE1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ETHE1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    miRNA
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ETHE1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ETHE1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Degradation of cysteine and homocysteine
    Degradation of cysteine and homocysteine0.62
    Sulfide oxidation to sulfate0.62
    2Metabolism
    Metabolism0.40
    3Cysteine and methionine metabolism
    Sulfur amino acid metabolism0.37
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5        Reactome Pathways for ETHE1
        Sulfide oxidation to sulfate
    Metabolism
    Sulfur amino acid metabolism
    Degradation of cysteine and homocysteine
    Metabolism of amino acids and derivatives



    ETHE1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ETHE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/12 Interacting proteins for ETHE1 (O955712, 3 ENSP000002921474) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    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): 5/7 biological process terms (GO ID links to tree view) (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--

    ETHE1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ETHE1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about ETHE1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ETHE1
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ETHE1
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      QIAGEN 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 

    24/169 AceView cDNA sequences (see all 169):

    AI273687 BM142363 CB046809 C02250 BI769492 CD671716 BM797323 BC008250 
    CD671717 BU175633 CF126756 AW135116 T25510 CF126456 AI086038 AJ430441 
    AA970945 BQ012440 BQ681019 AI360051 AI202673 CF530010 BG199821 BQ637811 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See ETHE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ETHE1

    SOURCE GeneReport for Unigene cluster: Hs.7486

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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ETHE1 gene from 10/20 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 65.66(n)
    69.7(a)
      426450  XM_424095.3  XP_424095.3 
    lizard
    (Anolis carolinensis)
    Reptilia ETHE16
    ethylmalonic encephalopathy 1
    67(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 63.72(n)
    67.26(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 Protein ETHE-1 54.17(n)
    54.46(a)
      177783  NM_069283.4  NP_501684.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GLO26
    GLO46
    Cytoplasmic glyoxalase II, catalyzes the hydrolysi...
    Mitochondrial glyoxalase II, catalyzes the hydroly...
    16(a)
    16(a)
    many ↔ many
    many ↔ many
    IV(1009010-1009834)
    XV(407064-407921)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GLY31 glyoxalase II 3 53.74(n)
    60(a)
      841793  NM_104236.4  NP_564636.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g06672001 hypothetical protein 58.86(n)
    61.09(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)
    About This Section
    Paralogs for ETHE1 gene
    PNKD2  HAGHL2  HAGH2  

    ETHE1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/553 SNPs in ETHE1 are shown (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
    ----------
    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--------
    rs289402891,2,4
    CEthylmalonic encephalopathy (EE)4 pathogenic144205442(-) GTGGGC/TGGACA 2 R W mis1 ese31Minor allele frequency- T:0.00NA 4552
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 5 diseases for ETHE1:    About MalaCards
    ethylmalonic encephalopathy    diarrhea    brain disease    tuberculosis
    pneumonia


    ETHE1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ETHE1 gene, integrated from 9 sources (see all 30):
    (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. (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. (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. (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. (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. (2012)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2004)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (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. (2007)
    10. ETHE1 mutations are specific to ethylmalonic encephalopathy. (PubMed id 16183799)1, 9 Tiranti V....Zeviani M. (2006)

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

      Query String
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    OMIM
    NCBI Bookshelf
      (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)
    About This Section
    Entrez Gene: 23474 HGNC: 23287 AceView: ETHE1 Ensembl:ENSG00000105755 euGenes: HUgn23474
    ECgene: ETHE1 H-InvDB: ETHE1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ETHE1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ETHE1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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