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Aliases for DUOXA1 Gene

Aliases for DUOXA1 Gene

  • Dual Oxidase Maturation Factor 1 2 3 5
  • Dual Oxidase Activator 1 3 4
  • NUMBIP 3 4
  • NIP 3 4
  • Homolog Of Drosophila Numb-Interacting Protein 3
  • Dual Oxidase Maturation Factor 1 Alpha 3
  • Dual Oxidase Maturation Factor 1 Delta 3
  • Dual Oxidase Maturation Factor 1 Gamma 3
  • Dual Oxidase Maturation Factor 1 Beta 3
  • Numb-Interacting Protein 4
  • Mol 3

External Ids for DUOXA1 Gene

Previous GeneCards Identifiers for DUOXA1 Gene

  • GC15M043198
  • GC15M045409
  • GC15M022233

Summaries for DUOXA1 Gene

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. An important paralog of this gene is DUOXA2.

UniProtKB/Swiss-Prot for DUOXA1 Gene

  • May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUOXA1 Gene

Genomics for DUOXA1 Gene

Regulatory Elements for DUOXA1 Gene

Enhancers for DUOXA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G045161 1.4 Ensembl ENCODE dbSUPER 23.7 -33.0 -32956 1.8 HDGF RB1 ARNT ARID4B RAD21 RFX5 SCRT2 ZNF143 ZNF207 FOS DUOXA1 ENSG00000259539 SHF DUOX1 SLC28A2 DUOX2 GC15P045136 GC15P045137 GC15P045138 GC15P045139
GH15G045156 1.3 Ensembl ENCODE dbSUPER 21 -27.8 -27816 2.0 KLF1 ZBTB21 JUN KLF17 CEBPG KAT2B FOSL1 ZNF324 ZNF600 KLF8 DUOXA1 ENSG00000259539 DUOX1 SHF SPATA5L1 SLC28A2 C15orf48 GC15P045136 GC15P045137 GC15P045138
GH15G045165 1.3 ENCODE dbSUPER 21 -37.9 -37914 4.7 HDGF PKNOX1 ARNT WRNIP1 SIN3A FEZF1 YBX1 YY1 ZNF766 ZNF207 DUOXA1 ENSG00000259539 SHF DUOX1 SLC28A2 DUOX2 ENSG00000259519
GH15G045391 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10 -262.4 -262365 1.8 MXI1 BACH1 MAX ZBTB40 ZBTB7B RELA GATA3 CTBP1 ARID3A EED LOC100533853 SPATA5L1 C15orf48 DUOX1 DUOXA1 BLOC1S6 PIR55932
GH15G045385 1.2 ENCODE dbSUPER 9.5 -257.2 -257186 2.6 FOXA2 ATF1 MLX ARID4B FEZF1 YY1 TSHZ1 MIER2 PPARG KAT8 SPATA5L1 LOC100533853 SLC28A2 DUOX1 DUOXA1 PIR55932
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DUOXA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DUOXA1 Gene

45,117,366 bp from pter
45,129,938 bp from pter
12,573 bases
Minus strand

Genomic View for DUOXA1 Gene

Genes around DUOXA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DUOXA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DUOXA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUOXA1 Gene

Proteins for DUOXA1 Gene

  • Protein details for DUOXA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dual oxidase maturation factor 1
    Protein Accession:
    Secondary Accessions:
    • Q8N6K9
    • Q96MI4

    Protein attributes for DUOXA1 Gene

    343 amino acids
    Molecular mass:
    37815 Da
    Quaternary structure:
    • May interact with NUMB.

    Alternative splice isoforms for DUOXA1 Gene


neXtProt entry for DUOXA1 Gene

Post-translational modifications for DUOXA1 Gene

  • Glycosylation at Asn84, Asn109, and isoforms=2, 3121
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DUOXA1 Gene

Domains & Families for DUOXA1 Gene

Protein Domains for DUOXA1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DUOXA family.
  • Belongs to the DUOXA family.
genes like me logo Genes that share domains with DUOXA1: view

No data available for Gene Families for DUOXA1 Gene

Function for DUOXA1 Gene

Molecular function for DUOXA1 Gene

UniProtKB/Swiss-Prot Function:
May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1.

Phenotypes for DUOXA1 Gene

genes like me logo Genes that share phenotypes with DUOXA1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DUOXA1

CRISPR Products

miRNA for DUOXA1 Gene

miRTarBase miRNAs that target DUOXA1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DUOXA1 Gene

Localization for DUOXA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUOXA1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DUOXA1 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DUOXA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IBA,IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DUOXA1: view

Pathways & Interactions for DUOXA1 Gene

SuperPathways for DUOXA1 Gene

No Data Available

Interacting Proteins for DUOXA1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000267803 Q1HG43-DOXA1_HUMAN for DUOXA1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DUOXA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0042743 hydrogen peroxide metabolic process IEA --
GO:0045666 positive regulation of neuron differentiation IEA --
GO:0050727 regulation of inflammatory response IEA --
genes like me logo Genes that share ontologies with DUOXA1: view

No data available for Pathways by source and SIGNOR curated interactions for DUOXA1 Gene

Drugs & Compounds for DUOXA1 Gene

No Compound Related Data Available

Transcripts for DUOXA1 Gene

Unigene Clusters for DUOXA1 Gene

Dual oxidase maturation factor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DUOXA1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8 ^ 9
SP2: - - - - - -
SP3: - - - -
SP4: - - -
SP5: - - - -
SP6: -
SP7: - - -
SP9: - -

Relevant External Links for DUOXA1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DUOXA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DUOXA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DUOXA1 Gene

This gene is overexpressed in Esophagus - Mucosa (x12.4), Thyroid (x7.6), Lung (x5.4), Vagina (x4.6), Skin - Not Sun Exposed (Suprapubic) (x4.4), and Skin - Sun Exposed (Lower leg) (x4.1).

Protein differential expression in normal tissues from HIPED for DUOXA1 Gene

This gene is overexpressed in Cervix (30.6), Liver, secretome (25.7), and Islet of Langerhans (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DUOXA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DUOXA1 Gene:


SOURCE GeneReport for Unigene cluster for DUOXA1 Gene:


mRNA Expression by UniProt/SwissProt for DUOXA1 Gene:

Tissue specificity: Specifically expressed in thyroid gland. Also detected in esophagus.

Evidence on tissue expression from TISSUES for DUOXA1 Gene

  • Thyroid gland(4.6)
  • Lung(4.3)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with DUOXA1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DUOXA1 Gene

Orthologs for DUOXA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DUOXA1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DUOXA1 34 35
  • 99.61 (n)
(Canis familiaris)
Mammalia DUOXA1 34 35
  • 88.01 (n)
(Bos Taurus)
Mammalia DUOXA1 34 35
  • 86.45 (n)
(Mus musculus)
Mammalia Duoxa1 34 16 35
  • 84.46 (n)
(Rattus norvegicus)
Mammalia Duoxa1 34
  • 83.92 (n)
(Monodelphis domestica)
Mammalia DUOXA1 35
  • 70 (a)
(Gallus gallus)
Aves -- 35
  • 48 (a)
-- 35
  • 43 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia duoxa1 34
  • 58.1 (n)
(Danio rerio)
Actinopterygii DUOXA1 35
  • 40 (a)
fruit fly
(Drosophila melanogaster)
Insecta mol 34 35
  • 45.36 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009976 34
(Caenorhabditis elegans)
Secernentea C06E1.3 34
  • 46.25 (n)
doxa-1 35
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
CSA.1230 35
  • 22 (a)
Species where no ortholog for DUOXA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DUOXA1 Gene

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

Paralogs for DUOXA1 Gene

Paralogs for DUOXA1 Gene

genes like me logo Genes that share paralogs with DUOXA1: view

Variants for DUOXA1 Gene

Sequence variations from dbSNP and Humsavar for DUOXA1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs4774518 Pathogenic 45,117,274(+) CAGTA(C/G/T)GGCGC downstream-variant-500B, reference, synonymous-codon
rs955152 Benign 45,117,073(+) CGGGT(C/T)CCCCC intron-variant, downstream-variant-500B
rs1000210494 -- 45,128,723(+) CAGAA(C/T)CATGC intron-variant, upstream-variant-2KB
rs1000366818 -- 45,125,620(+) TTCTT(A/G)ACCTC intron-variant
rs1000483424 -- 45,131,866(+) TCTTT(C/T)ACCTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DUOXA1 Gene

Variant ID Type Subtype PubMed ID
esv1002924 CNV deletion 20482838
esv2760029 CNV gain+loss 17122850
nsv457125 CNV loss 19166990
nsv518213 CNV gain 19592680
nsv569312 CNV loss 21841781
nsv569313 CNV gain 21841781
nsv569314 CNV loss 21841781
nsv7264 OTHER inversion 18451855

Variation tolerance for DUOXA1 Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DUOXA1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DUOXA1 Gene

Disorders for DUOXA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DUOXA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyshormonogenic goiter
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DUOXA1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DUOXA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DUOXA1 Gene

Publications for DUOXA1 Gene

  1. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. (PMID: 16651268) Grasberger H. … Refetoff S. (J. Biol. Chem. 2006) 2 3 4 64
  2. A novel transmembrane protein recruits numb to the plasma membrane during asymmetric cell division. (PMID: 14670962) Qin H. … Li S.S.-C. (J. Biol. Chem. 2004) 3 4 22 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Thyroid hydrogen peroxide production is enhanced by the Th2 cytokines, IL-4 and IL-13, through increased expression of the dual oxidase 2 and its maturation factor DUOXA2. (PMID: 23010498) Raad H. … De Deken X. (Free Radic. Biol. Med. 2013) 3 64

Products for DUOXA1 Gene

Sources for DUOXA1 Gene

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