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DUOX1 Gene

protein-coding   GIFtS: 55
GCID: GC15P045422

Dual Oxidase 1

  See DUOX1-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   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 Chromatin IP Primers for DUOX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • N-glycosylated1
  • Glycosylation2 at Asn94, Asn342, Asn354, Asn461, Asn534
  • Modification sites at PhosphoSitePlus

  • See DUOX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000317997   ENSP00000373689   ENSP00000454121   ENSP00000452623   ENSP00000454065  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 11):
     IPR017927 Fd_Rdtase_FAD-bd
     IPR002007 Haem_peroxidase_animal
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-dom_pair
     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


    Find genes that share domains with DUOX1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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): Selected molecular function terms (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 ----
         
    Find genes that share ontologies with DUOX1           About GenesLikeMe


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidDUOX1 3' UTR sequence
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    (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
    DUOX1_HUMAN, Q9NRD9: Apical cell membrane; Multi-pass membrane protein. Note=Localizes to the apical membrane of
    epithelial cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    endoplasmic reticulum1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with DUOX1           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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    UniProtKB/Swiss-Prot: DUOX1_HUMAN, Q9NRD9
    Pathway: Hormone biosynthesis; thyroid hormone biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DUOX1: 

              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (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--

    Find genes that share ontologies with DUOX1           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
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    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)



    Find genes that share compounds with DUOX1           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 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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    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 

    Selected AceView cDNA sequences (see all 59):

    AL137592 AF213465 BF844465 NM_175940 AW188742 AA331154 NM_017434 AL708623 
    AF230495 CD628225 AK172859 BE164243 BE140896 CD628228 CD628232 AK075268 
    BF877751 BG290606 AK128591 AL708392 BV197737 CD628230 AA641653 BU608767 

    GeneLoc Exon Structure

    Selected 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™, 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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    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


    DUOX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Lung (Respiratory System)
             Basal Cells Trachea
     
     Esophagus (Gastrointestinal Tract)
    DUOX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DUOX1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DUOX1: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DUOX1

    (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 DUOX1 gene from Selected species (see all 16)    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 DUOX21 dual oxidase 2 70.46(n)
    66.84(a)
      427482  XM_425053.4  XP_425053.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    56(a)
    1 → many
    GL343490.1(251761-310969)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia duox11 dual oxidase 1 62.36(n)
    64.28(a)
      100486194  XM_002937890.2  XP_002937936.2 
    zebrafish
    (Danio rerio)
    Actinopterygii duox1 dual oxidase 60.61(n)
    56.76(a)
      565097  XM_001919359.4  XP_001919394.4 
    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 RBOHA1 RBOHA 45.96(n)
    36.57(a)
      830630  NM_120821.2  NP_196356.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g03602001 Os01g0360200 45.13(n)
    32.3(a)
      4326027  NM_001049555.1  NP_001043020.1 


    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)
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    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

    Find genes that share paralogs with DUOX1           About GenesLikeMe


    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), 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 DUOX1 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DUOX1
    DNA2.0 Custom Variant and Variant Library Synthesis for DUOX1

    (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: 606758    OMIM disorders: --

    1 disease for DUOX1:    
    About MalaCards
    follicular thyroid carcinoma

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

    Find genes that share disorders with DUOX1           About GenesLikeMe

    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)
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    PubMed articles for DUOX1 gene, integrated from 10 sources (see all 74):
    (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. (J. Biol. Chem. 2000)
    2. Identification of a novel partner of duox: EFP1, a thioredoxin- related protein. (PubMed id 15561711)1, 2, 9 Wang D....Miot F. (J. Biol. Chem. 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. (FEBS Lett. 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. (FASEB J. 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. (Exp. Cell Res. 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. (J. Biol. Chem. 2005)
    7. Genetic polymorphisms and susceptibility to lung disease. (PubMed id 16608528)1, 4, 9 Lee P.L....Wang L. (J Negat Results Biomed 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. (Gastroenterology 2010)
    9. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (Vaccine 2010)
    10. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 53905 HGNC: 3062 AceView: DUOX1 Ensembl:ENSG00000137857 euGenes: HUgn53905
    ECgene: DUOX1 H-InvDB: DUOX1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    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

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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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