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

DUOX1 Gene

protein-coding   GIFtS: 54
GCID: GC15P045422

Dual Oxidase 1

  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

Aliases
Dual Oxidase 11 2     Thyroid Oxidase 12 3
NADPH Thyroid Oxidase 11 2 3     LNOX12 3
THOX12 3 5     NOXEF12
Flavoprotein NADPH Oxidase1 2     DUOX3
Nicotinamide Adenine Dinucleotide Phosphate Oxidase1 2     EC 1.11.1.-3
Large NOX 12 3     EC 1.6.3.13
Long NOX 12 3     

External Ids:    HGNC: 30621   Entrez Gene: 539052   Ensembl: ENSG000001378577   OMIM: 6067585   UniProtKB: Q9NRD93   

Export aliases for DUOX1 gene to outside databases

Previous GC identifers: GC15P040980 GC15P038469 GC15P043001 GC15P043138 GC15P043209 GC15P022246


(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 DUOX1 Gene:
The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of
thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells.
This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes
proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has
both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby
plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated
antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same
protein have been described for this gene. (provided by RefSeq, Jul 2012)

GeneCards Summary for DUOX1 Gene: 
DUOX1 (dual oxidase 1) is a protein-coding gene. Diseases associated with DUOX1 include thyroiditis, and follicular thyroid carcinoma. GO annotations related to this gene include NADP binding and calcium ion binding. An important paralog of this gene is CYBB.

UniProtKB/Swiss-Prot: DUOX1_HUMAN, Q9NRD9
Function: Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and
lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial
defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like
domain

Gene Wiki entry for DUOX1 (Dual oxidase 1) 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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DUOX1 gene promoter:
         GR   ER-alpha   p53   AP-1   GR-beta   IRF-1   C/EBPalpha   HEN1   PPAR-gamma1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDUOX1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DUOX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUOX1


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

Entrez Gene cytogenetic band: 15q15.3   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21

DUOX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUOX1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P045422:  view genomic region     (about GC identifiers)

Start:
45,422,131 bp from pter      End:
45,457,774 bp from pter
Size:
35,644 bases      Orientation:
plus 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: DUOX1_HUMAN, Q9NRD9 (See protein sequence)
Recommended Name: Dual oxidase 1 precursor  
Size: 1551 amino acids; 177235 Da
Subunit: Interacts with TXNDC11, TPO and CYBA
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Note=Localizes to the apical membrane of
epithelial cells
Developmental stage: Widely expressed in fetal tissues
Sequence caution: Sequence=AK128591; Type=Erroneous termination; Positions=967; Note=Translated as Arg;
Sequence=BAD18816.1; Type=Erroneous initiation;
Secondary accessions: A6NH28 Q14C94 Q6ZMB3 Q6ZR09 Q9NZC1
Alternative splicing: 2 isoforms:  Q9NRD9-1   Q9NRD9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DUOX1: NX_Q9NRD9

Explore proteomics data for DUOX1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NRD9

  • DUOX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DUOX1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_059130.2  NP_787954.1  

    ENSEMBL proteins: 
     ENSP00000317997   ENSP00000373689   ENSP00000454121   ENSP00000452623   ENSP00000454065  

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    Cloud-Clone Corp. Proteins for DUOX1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ----
    GO:0016021integral to membrane IEA--
    GO:0016324apical plasma membrane NAS10806195

    DUOX1 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
    HGNC Gene Families: 
    EFHAND: EF-hand domain containing

    5/11 InterPro protein domains (see all 11):
     IPR017927 Fd_Rdtase_FAD-bd
     IPR002007 Haem_peroxidase_animal
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry Q9NRD9

    ProtoNet protein and cluster: Q9NRD9

    2 Blocks protein domains:
    IPB010255 Haem peroxidase
    IPB013130 Ferric reductase-like transmembrane component


    UniProtKB/Swiss-Prot: DUOX1_HUMAN, Q9NRD9
    Similarity: In the N-terminal section; belongs to the peroxidase family
    Similarity: Contains 3 EF-hand domains
    Similarity: Contains 1 FAD-binding FR-type domain
    Similarity: Contains 1 ferric oxidoreductase domain


    DUOX1 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: DUOX1_HUMAN, Q9NRD9
    Function: Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and
    lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial
    defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like
    domain
    Catalytic activity: NAD(P)H + O(2) = NAD(P)(+) + H(2)O(2)
    Enzyme regulation: The NADPH oxidase activity is calcium-dependent. Peroxidase activity is inhibited by
    aminobenzohydrazide
    Induction: By forskolin (at protein level). By thyrotropin and the Th2-specific cytokines IL-4 and IL-13

         Enzyme Numbers (IUBMB): EC 1.11.1.-1 EC 1.6.3.11

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004601peroxidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0016174NAD(P)H oxidase activity NAS10806195
    GO:0016491oxidoreductase activity ----
         
    DUOX1 for ontologies           About GeneDecksing


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    Inhib. RNA
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    (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



    UniProtKB/Swiss-Prot: DUOX1_HUMAN, Q9NRD9
    Pathway: Hormone biosynthesis; thyroid hormone biosynthesis

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DUOX1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for DUOX1 (Q9NRD93 ENSP000003179974) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TXNDC11Q6PKC33, ENSP000002830334I2D: score=1 STRING: ENSP00000283033
    TPOP072023, ENSP000003298694I2D: score=1 STRING: ENSP00000329869
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006590thyroid hormone generation IEA--
    GO:0006979response to oxidative stress ----
    GO:0019221cytokine-mediated signaling pathway IDA16111680
    GO:0042335cuticle development IMP11514595
    GO:0042446hormone biosynthetic process IEA--

    DUOX1 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

    DUOX1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for DUOX1

    5 HMDB Compounds for DUOX1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    6 Novoseek inferred chemical compound relationships for DUOX1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadph 78 25 19339556 (2), 16111680 (2), 15972824 (1), 17142770 (1) (see all 16)
    iodide 72 4 14557483 (1), 16987011 (1), 14960641 (1)
    h2o2 63.9 14 15972824 (2), 18230830 (2), 12824283 (2), 16134168 (1) (see all 10)
    diphenyleneiodonium 52.3 1 17337509 (1)
    superoxide 44.7 4 19460756 (1), 18802092 (1)
    oxygen 43.5 10 17142770 (2), 19074510 (1), 17220369 (1), 17218812 (1)

    Search CenterWatch for drugs/clinical trials and news about DUOX1

    (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 DUOX1 gene (2 alternative transcripts): 
    NM_017434.4  NM_175940.2  

    Unigene Cluster for DUOX1:

    Dual oxidase 1
    Hs.272813  [show with all ESTs]
    Unigene Representative Sequence: NM_017434
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321429(uc001zus.1 uc001zut.1 uc010bee.1) ENST00000389037
    ENST00000558322 ENST00000561220 ENST00000558991 ENST00000561166 ENST00000559219
    ENST00000557893(uc001zuu.3) ENST00000558446 ENST00000559716 ENST00000559221
    ENST00000558744
    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate DUOX1:
    hsa-miR-3194-5p hsa-miR-612 hsa-miR-767-3p hsa-miR-1285 hsa-miR-338-3p
    SwitchGear 3'UTR luciferase reporter plasmidDUOX1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF213465.1 AF230495.1 AK075268.1 AK128591.1 AK129611.1 AK172859.1 AK290372.1 AL137592.1 
    BC114628.1 BC114938.1 

    11 DOTS entries:

    DT.86858071  DT.91652102  DT.86995815  DT.97769689  DT.95202677  DT.91764193  DT.91849682  DT.97825157 
    DT.91764196  DT.91994859  DT.95102249 

    24/59 AceView cDNA sequences (see all 59):

    AL137592 AF213465 BF844465 AL708623 AA331154 NM_175940 NM_017434 AW188742 
    CB850552 CD628232 BE140896 BF877751 AK075268 BV197737 BI768821 AW150028 
    AK128591 BG290606 AF230495 CD628225 AK172859 AA641653 CD628230 CD628228 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for DUOX1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                    -     -                                                                                                                                 

    ExUns: 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30
    SP1:                                                                              
    SP2:                                                                              
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for DUOX1

    (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

    DUOX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGGTAATCC
    DUOX1 Expression
    About this image


    See DUOX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DUOX1

    SOURCE GeneReport for Unigene cluster: Hs.272813

    UniProtKB/Swiss-Prot: DUOX1_HUMAN, Q9NRD9
    Tissue specificity: Expressed in thyrocytes and tracheal surface epithelial cells (at protein level). Expressed in
    thyroid, trachea, bronchium, and to a lower extent, in placenta, testis, prostate, pancreas and heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including DUOX1: 
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              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    (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 DUOX1 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Duox11 , 5 dual oxidase 11, 5 87.28(n)1
    91.04(a)1
      2 (60.63 cM)5
    994391  NM_001099297.11  NP_001092767.11 
     1223156725 
    chicken
    (Gallus gallus)
    Aves --
    --
    65(a)
    1 → many
    10(548659-565615)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    54(a)
    1 → many
    GL343490.1(251761-310969)
    zebrafish
    (Danio rerio)
    Actinopterygii duox6
    dual oxidase
    56(a)
    1 → many
    25(32936631-32997395)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG31313 superoxide-generating NADPH oxidase 39(a)   23B2   --
    worm
    (Caenorhabditis elegans)
    Secernentea F56C11.13   -- 34(a)
    (best of 2)
      I(146623-154819)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RBOHB1 Respiratory burst oxidase-B 43.1(n)
    32.87(a)
      837430  NM_202070.1  NP_973799.1 


    ENSEMBL Gene Tree for DUOX1 (if available)
    TreeFam Gene Tree for DUOX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DUOX1 gene
    CYBB2  NOX12  NOX32  NOX42  DUOX22  NOX52  
    6 SIMAP similar genes for DUOX1 using alignment to 5 protein entries:     DUOX1_HUMAN (see all proteins):
    DKFZp434L0610    DUOX2    CALM2    CALM1    CALM3    NOX3

    DUOX1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DUOX1
    PGOHUM00000262060


    (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

    10/923 SNPs in DUOX1 are shown (see all 923)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1396780031,2
    C--45424087(+) AGCTGA/GGGCTC 2 -- int10--------
    rs1116966061,2
    C,F--45424212(+) GCATGG/CACCCC 4 /C /W mis12Minor allele frequency- C:0.00CSA NA 4554
    rs17068101,2
    C,F,O,A,H--45424286(+) GCTCCC/GCCAAG 2 -- int113Minor allele frequency- G:0.49MN NS EA NA WA 968
    rs1173668571,2
    F--45424740(+) CCGGAT/GCTCTG 2 -- int11Minor allele frequency- G:0.01EA 120
    rs1862983461,2
    --45424845(+) AACCTA/GTAGAA 2 -- int10--------
    rs9381311,2
    C,F,A,H--45424918(+) GAGCTG/ACTCAC 2 -- int119Minor allele frequency- A:0.06NA EA NS WA CSA 924
    rs9381321,2
    C,F,O,A,H--45425055(+) GCCACA/GGGTTC 2 -- int130Minor allele frequency- G:0.44MN EA NA NS WA 3168
    rs58122861,2
    C--45425106(+) TTGAAC/-CCTTA 2 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs1474904121,2
    --45425177(+) GTGAGC/TGTGAA 2 -- int10--------
    rs1161909891,2
    C,F--45425389(+) GGACCC/ATCATT 2 -- int11Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for DUOX1 (45422131 - 45457774 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for DUOX1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1002924CNV Deletion20482838
    dgv2378n71CNV Loss21882294
    nsv520580CNV Loss19592680
    nsv904187CNV Loss21882294
    nsv457125CNV Loss19166990
    nsv518213CNV Gain19592680
    dgv744e1CNV Complex17122850

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    (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: 606758    OMIM disorders: --

    17 diseases for DUOX1:    About MalaCards
    thyroiditis    follicular thyroid carcinoma    alcoholic hepatitis    congenital hypothyroidism
    hypothyroidism    hepatopulmonary syndrome    chronic granulomatous disease    chronic obstructive pulmonary disease
    vascular disease    alcoholism    liver disease    adenoma
    hepatocellular carcinoma    neuroblastoma    lung cancer    hepatitis
    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for DUOX1:
    Chronic granulomatous disease     Vascular disease

    DUOX1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for DUOX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital hypothyroidism 71.9 2 19339556 (1), 16651268 (1)
    carcinoma papillary 46.5 1 18230830 (1)
    thyroid carcinoma 31 1 11762710 (1)
    adenoma 29.9 1 18230830 (1)
    carcinoma 13 2 11762710 (1), 18230830 (1)
    tumors 0 4 11762710 (3), 18230830 (1)

    Genetic Association Database (GAD): DUOX1
    Human Genome Epidemiology (HuGE) Navigator: DUOX1 (5 documents)

    Export disorders for DUOX1 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 DUOX1 gene, integrated from 9 sources (see all 72):
    (articles sorted by number of sources associating them with DUOX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. (PubMed id 10806195)1, 2, 3, 9 De Deken X.... Miot F. (2000)
    2. Identification of a novel partner of duox: EFP1, a thioredoxin- related protein. (PubMed id 15561711)1, 2, 9 Wang D....Miot F. (2005)
    3. Differential regulation of dual NADPH oxidases/peroxidases, Duox1 and Duox2, by Th1 and Th2 cytokines in respiratory tract epithelium. (PubMed id 16111680)1, 2, 9 Harper R.W.... Wu R. (2005)
    4. Dual oxidases represent novel hydrogen peroxide sources supporting mucosal surface host defense. (PubMed id 12824283)1, 2, 9 Geiszt M.... Leto T.L. (2003)
    5. Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system. (PubMed id 11822874)1, 2, 9 De Deken X.... Miot F. (2002)
    6. Dual oxidase-2 has an intrinsic Ca2+-dependent H2O2-generating activity. (PubMed id 15972824)1, 2, 9 Ameziane-El-Hassani R.... Dupuy C. (2005)
    7. Genetic polymorphisms and susceptibility to lung disease. (PubMed id 16608528)1, 4, 9 Lee P.L....Wang L. (2006)
    8. Genetic Risk Factors for Hepatopulmonary Syndrome in Patients With Advanced Liver Disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (2010)
    9. Polymorphisms in innate immunity genes and patients r esponse to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (2010)
    10. The variant rs1867277 in FOXE1 gene confers thyroid c ancer susceptibility through the recruitment of USF1/USF2 transcription factors . (PubMed id 19730683)1, 4 Landa I....Robledo M. (2009)

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

      Query String
    PubMed
    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: 53905 HGNC: 3062 AceView: DUOX1 Ensembl:ENSG00000137857 euGenes: HUgn53905
    ECgene: DUOX1 H-InvDB: DUOX1

    (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 DUOX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DUOX1 gene:
    Search GeneIP for patents involving DUOX1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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