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

DUOXA1 Gene

protein-coding   GIFtS: 45
GCID: GC15M045409

Dual Oxidase Maturation Factor 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 Maturation Factor 11 2     Dual Oxidase Maturation Factor 1 Delta2
Dual Oxidase Activator 12 3     Dual Oxidase Maturation Factor 1 Gamma2
NIP2 3     Homolog Of Drosophila Numb-Interacting Protein2
NUMBIP2 3     mol2
Dual Oxidase Maturation Factor 1 Alpha2     Numb-Interacting Protein3
Dual Oxidase Maturation Factor 1 Beta2     

External Ids:    HGNC: 265071   Entrez Gene: 905272   Ensembl: ENSG000001402547   OMIM: 6127715   UniProtKB: Q1HG433   

Export aliases for DUOXA1 gene to outside databases

Previous GC identifers: GC15M043198 GC15M022233


(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 DUOXA1 Gene:
Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for
thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively,
which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1
activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the
transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed
with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of
this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid
hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This
protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple
alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jan 2013)

GeneCards Summary for DUOXA1 Gene: 
DUOXA1 (dual oxidase maturation factor 1) is a protein-coding gene. Diseases associated with DUOXA1 include dyshormonogenic goiter, and aortic valve insufficiency. An important paralog of this gene is DUOXA2.

UniProtKB/Swiss-Prot: DOXA1_HUMAN, Q1HG43
Function: May be required for the maturation and the transport from the endoplasmic reticulum to the plasma
membrane of functional DUOX1 (Probable)




(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 DUOXA1 gene promoter:
         GR   c-Fos   p53   AP-1   ATF-2   IRF-1   C/EBPalpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDUOXA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DUOXA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUOXA1


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

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

DUOXA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUOXA1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M045409:  view genomic region     (about GC identifiers)

Start:
45,409,569 bp from pter      End:
45,422,136 bp from pter
Size:
12,568 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: DOXA1_HUMAN, Q1HG43 (See protein sequence)
Recommended Name: Dual oxidase maturation factor 1  
Size: 343 amino acids; 37815 Da
Subunit: May interact with NUMB
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q8N6K9 Q96MI4
Alternative splicing: 3 isoforms:  Q1HG43-1   Q1HG43-2   Q1HG43-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DUOXA1: NX_Q1HG43

Explore proteomics data for DUOXA1 at MOPED 

DUOXA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

DUOXA1 Protein Expression

REFSEQ proteins (6 alternative transcripts): 
NP_001263193.1  NP_001263194.1  NP_001263195.1  NP_001263196.1  NP_001263197.1  NP_653166.2  

ENSEMBL proteins: 
 ENSP00000267803   ENSP00000453569   ENSP00000454019   ENSP00000415512   ENSP00000453614  
 ENSP00000453836   ENSP00000454084   ENSP00000454117   ENSP00000453809   ENSP00000452782  
 ENSP00000453295   ENSP00000452795   ENSP00000453217  

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Cloud-Clone Corp. Proteins for DUOXA1 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005789endoplasmic reticulum membrane IEA--
GO:0005886plasma membrane IEA--
GO:0016021integral to membrane IEA--

DUOXA1 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for DUOXA1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR018469 Dual_oxidase_maturation_fac

Graphical View of Domain Structure for InterPro Entry Q1HG43

ProtoNet protein and cluster: Q1HG43

UniProtKB/Swiss-Prot: DOXA1_HUMAN, Q1HG43
Similarity: Belongs to the DUOXA family


DUOXA1 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: DOXA1_HUMAN, Q1HG43
Function: May be required for the maturation and the transport from the endoplasmic reticulum to the plasma
membrane of functional DUOX1 (Probable)

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
DUOXA1 for ontologies           About GeneDecksing


Phenotypes:
     1 MGI phenotypic allele for Duoxa1 (no phenotypes)

DUOXA1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Duoxa1tm1Lex for DUOXA1

   inGenious Targeting Laboratory - Custom generated mouse model solutions for DUOXA1 
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miRNA
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In Situ Assay
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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



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DUOXA1

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

GO IDQualified GO termEvidencePubMed IDs
GO:0015031protein transport IEA--
GO:0045666positive regulation of neuron differentiation IEA--
GO:2000379positive regulation of reactive oxygen species metabolic process IEA--

DUOXA1 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
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DUOXA1 (DOXA1)

Search CenterWatch for drugs/clinical trials and news about DUOXA1 / DOXA1

(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 DUOXA1 gene (6 alternative transcripts): 
NM_001276264.1  NM_001276265.1  NM_001276266.1  NM_001276267.1  NM_001276268.1  NM_144565.3  

Unigene Cluster for DUOXA1:

Dual oxidase maturation factor 1
Hs.356664  [show with all ESTs]
Unigene Representative Sequence: NM_001276267
15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000267803(uc001zup.3) ENST00000559014(uc010uem.2 uc010bec.3)
ENST00000558996(uc010bed.1) ENST00000430224 ENST00000559013(uc001zuq.1)
ENST00000558422(uc001zur.1) ENST00000560572 ENST00000558326 ENST00000559988
ENST00000559226 ENST00000558377 ENST00000559644 ENST00000558851 ENST00000559407
ENST00000558976
miRNA
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Additional mRNA sequence: 

AK056896.1 AK292771.1 BC020841.1 BC029819.1 DQ489735.1 EU927394.1 EU927395.1 EU927396.1 
EU927397.1 

7 DOTS entries:

DT.99939778  DT.75102990  DT.91660041  DT.97836325  DT.121016596  DT.97803223  DT.423397 

24/27 AceView cDNA sequences (see all 27):

CB305399 CB850544 CA444325 AK056896 NM_144565 BC029819 BC020841 BG536379 
BQ017315 AL709691 AI924216 BM977010 CD511927 AA630445 AI653921 BM977797 
AL709690 AI572329 W80832 BM973444 CA429351 BF843140 BI821671 AK027187 

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for DUOXA1 (see all 9)    About this scheme

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8 ^ 9
SP1:                                                                                                                              
SP2:                    -     -     -           -     -     -                                                                     
SP3:                          -                 -     -     -                                                                     
SP4:                                -           -           -                                                                     
SP5:                                -           -     -     -                                                                     


ECgene alternative splicing isoforms for DUOXA1

(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

DUOXA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAACACGGCA
DUOXA1 Expression
About this image


See DUOXA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DUOXA1

SOURCE GeneReport for Unigene cluster: Hs.356664

UniProtKB/Swiss-Prot: DOXA1_HUMAN, Q1HG43
Tissue specificity: Specifically expressed in thyroid gland. Also detected in esophagus

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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 animals.

Orthologs for DUOXA1 gene from 6/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Duoxa11 , 5 dual oxidase maturation factor 11, 5 84.8(n)1
84.5(a)1
  2 (60.62 cM)5
2136961  NM_145395.21  NP_663370.21 
 1223021915 
chicken
(Gallus gallus)
Aves DUOXA11 dual oxidase maturation factor 1 64.26(n)
54.51(a)
  427484  XM_425055.2  XP_425055.2 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
43(a)
1 → many
GL343490.1(227341-238894)
zebrafish
(Danio rerio)
Actinopterygii DUOXA26
dual oxidase maturation factor 2
40(a)
1 → many
25(32922750-32933968)
fruit fly
(Drosophila melanogaster)
Insecta mol1 moladietz 44.12(n)
34.11(a)
  34872  NM_001042898.1  NP_001036363.1 
worm
(Caenorhabditis elegans)
Secernentea C06E1.31 Protein C06E1.3 45.88(n)
36.53(a)
  182313  NM_066485.4  NP_498886.2 


ENSEMBL Gene Tree for DUOXA1 (if available)
TreeFam Gene Tree for DUOXA1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DUOXA1 gene
DUOXA22  
2 SIMAP similar genes for DUOXA1 using alignment to 11 protein entries:     DOXA1_HUMAN (see all proteins):
NIP    DUOXA2

DUOXA1 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

10/265 SNPs in DUOXA1 are shown (see all 265)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2002566391,2
--25478028(+) ATGTCA/CTGGGA 12 Q H mis10--------
rs1998559831,2
C--25478039(+) CTTGGG/TACTGT 12 T P mis10--------
rs169776861,2,4
C,F,H--25478042(+) GGGACT/CGTCAG 12 /S /G mis1 ese317Minor allele frequency- C:0.01NA NS EA WA EU 7441
rs1995592251,2
C--25478062(+) GGTAGC/TGGGGG 12 H R mis10--------
rs1437922831,2
C--25478109(+) ATGGGG/TTCTTC 12 E D mis10--------
rs1488494571,2
C--25478138(+) GAAAGC/ACTTCA 12 /A /S mis11Minor allele frequency- A:0.00NA 4536
rs798978091,2
C--25478170(+) GGGCCA/CCCGCC 12 G V mis10--------
rs1860636571,2
C--25478253(+) ACACCC/TGCCGA 6 -- int10--------
rs169776871,2
C,F,H--25478257(+) CTGCCG/AAGGAT 6 -- int19Minor allele frequency- A:0.10NA NS EA CSA WA 680
rs129108071,2
C,F,H--25478276(+) CTGGGA/TGTGTC 6 -- int18Minor allele frequency- T:0.02NS EA NA 544

HapMap Linkage Disequilibrium report for DUOXA1 (45409569 - 45422136 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for DUOXA1:    About this table     
Variant IDTypeSubtypePubMed ID
esv1002924CNV Deletion20482838
dgv2378n71CNV Loss21882294
nsv457125CNV Loss19166990
nsv518213CNV Gain19592680
dgv744e1CNV Complex17122850
nsv7264OTHER Inversion18451855

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 612771    OMIM disorders: --

8 diseases for DUOXA1:    About MalaCards
dyshormonogenic goiter    aortic valve insufficiency    congenital hypothyroidism    hypothyroidism
thyroiditis    goiter    neuronitis    breast cancer

2 diseases from the University of Copenhagen DISEASES database for DUOXA1:
Dyshormonogenic goiter     Congenital hypothyroidism

DUOXA1 for disorders           About GeneDecksing

Genetic Association Database (GAD): DUOXA1
Human Genome Epidemiology (HuGE) Navigator: DUOXA1 (2 documents)

Export disorders for DUOXA1 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 DUOXA1 gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with DUOXA1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. (PubMed id 16651268)1, 2, 3 Grasberger H. and Refetoff S. (2006)
  2. A novel transmembrane protein recruits numb to the plasma membrane during asymmetric cell division. (PubMed id 14670962)1, 2, 9 Qin H.... Li S.S.-C. (2004)
  3. 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)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (2013)
  6. Sexual dimorphism of thyroid reactive oxygen species p roduction due to higher NADPH oxidase 4 expression in female thyroid glands. (PubMed id 23033809)1 Fortunato R.S....Carvalho D.P. (2013)
  7. Thyroid hydrogen peroxide production is enhanced by th e Th2 cytokines, IL-4 and IL-13, through increased expression of the dual oxidas e 2and its maturation factorDUOXA2. (PubMed id 23010498)1 Raad H....De Deken X. (2013)
  8. Regulation of dual oxidase expression and H2O2 product ion by thyroglobulin. (PubMed id 22874065)1 Yoshihara A....Suzuki K. (2012)
  9. Regulation of dual oxidase (DUOX) expression and H2O2 production by thyroglobulin. (PubMed id 22612456)1 Yoshihara A....Suzuki K. (2012)
  10. The type of DUOX-dependent ROS production is dictated by defined sequences in DUOXA. (PubMed id 22814254)1 Hoste C....De Deken X. (2012)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 90527 HGNC: 26507 AceView: NIP Ensembl:ENSG00000140254 euGenes: HUgn90527
ECgene: DUOXA1 H-InvDB: DUOXA1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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NameDescription
PharmGKB entry for DUOXA1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
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