Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DUOXA1 Gene

Aliases for DUOXA1 Gene

  • Dual Oxidase Maturation Factor 1 2 3 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.

Additional gene information for DUOXA1 Gene

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

GeneHancer (GH) Regulatory Elements for DUOXA1 Gene

Promoters and enhancers for DUOXA1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J045130 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 650.7 -0.6 -570 1.3 ATF2 ZFX EZH2 DUOX1 DUOXA1 PIR49799 DUOX2 ENSG00000259539
GH15J045129 Promoter/Enhancer 0.9 EPDnew dbSUPER 650.7 +0.3 268 0.1 SUZ12 EZH2 DUOX1 DUOXA1 PIR49799 PIR50334
GH15J045131 Promoter/Enhancer 0.9 EPDnew dbSUPER 650.7 +0.5 487 0.1 SUZ12 EZH2 DUOX1 DUOXA1 PIR49799 PIR50334
GH15J045165 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 21 -37.9 -37914 4.7 HDGF PKNOX1 ATF1 SIN3A FEZF1 YY1 TCF12 POLR2B ZNF766 ZNF207 ENSG00000259539 DUOXA1 CTDSPL2 SPG11 SHF ENSG00000259563 DUOX1 SPATA5L1 SLC28A2 DUOX2
GH15J045161 Enhancer 1.3 Ensembl ENCODE dbSUPER 23.7 -33.0 -32956 1.8 HDGF RB1 ARNT ARID4B SIN3A IRF4 RAD21 RFX5 ZNF335 ZNF614 DUOXA1 ENSG00000259539 SHF DUOX1 SLC28A2 DUOX2 GC15P045136 GC15P045137 GC15P045138 GC15P045139
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DUOXA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DUOXA1 gene promoter:
  • AP-1
  • c-Jun
  • c-Fos
  • C/EBPalpha
  • p53
  • IRF-1
  • ATF-2
  • GR

Genomic Locations for DUOXA1 Gene

Genomic Locations for DUOXA1 Gene
12,573 bases
Minus strand
12,568 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 Asn121, Asn109, and posLast=8484
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DUOXA1 Gene

Domains & Families for DUOXA1 Gene

Gene Families for DUOXA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

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

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

Animal Model Products

  • Taconic Biosciences Mouse Models for DUOXA1

miRNA for DUOXA1 Gene

miRTarBase miRNAs that target DUOXA1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
cytosol 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 IEA,IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DUOXA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DUOXA1 Gene

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: Q1HG43-DOXA1_HUMAN ENSP00000267803 for DUOXA1 Gene via IID STRING

Gene Ontology (GO) - Biological Process for DUOXA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:2000379 positive regulation of reactive oxygen species metabolic process 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:

Clone 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

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 33
  • 99.61 (n)
(Canis familiaris)
Mammalia DUOXA1 34 33
  • 88.01 (n)
(Bos Taurus)
Mammalia DUOXA1 34 33
  • 86.45 (n)
(Mus musculus)
Mammalia Duoxa1 16 34 33
  • 84.46 (n)
(Rattus norvegicus)
Mammalia Duoxa1 33
  • 83.92 (n)
(Monodelphis domestica)
Mammalia DUOXA1 34
  • 70 (a)
(Gallus gallus)
Aves -- 34
  • 48 (a)
-- 34
  • 43 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia duoxa1 33
  • 58.1 (n)
(Danio rerio)
Actinopterygii DUOXA1 34
  • 40 (a)
fruit fly
(Drosophila melanogaster)
Insecta mol 34 33
  • 45.36 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009976 33
(Caenorhabditis elegans)
Secernentea C06E1.3 33
  • 46.25 (n)
doxa-1 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
CSA.1230 34
  • 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)
Evolutionary constrained regions (ECRs) for DUOXA1: view image

Paralogs for DUOXA1 Gene

Paralogs for DUOXA1 Gene

(1) SIMAP similar genes for DUOXA1 Gene using alignment to 12 proteins:

  • A8K9Q6_HUMAN
  • B5M0B7_HUMAN
  • B5M0B8_HUMAN
  • B5M0C0_HUMAN
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 Variation AA Info Type
rs4774518 pathogenic, Thyroglobulin synthesis defect 45,117,274(-) C/G/T downstream_transcript_variant
rs751628515 uncertain-significance, not specified 45,117,722(-) TGTG/TG 3_prime_UTR_variant, coding_sequence_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
rs955152 benign, not specified 45,117,073(-) C/T downstream_transcript_variant
rs1000210494 -- 45,128,723(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000366818 -- 45,125,620(-) G/A genic_upstream_transcript_variant, intron_variant

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)

Additional Variant Information 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: HGMD and DISEASES

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

Additional Disease Information for DUOXA1

Genetic Association Database
Human Genome Epidemiology 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 (The Journal of biological chemistry 2006) 2 3 4 58
  2. A novel transmembrane protein recruits numb to the plasma membrane during asymmetric cell division. (PMID: 14670962) Qin H … Li SS (The Journal of biological chemistry 2004) 3 4 22 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Epidermal growth factor-induced hydrogen peroxide production is mediated by dual oxidase 1. (PMID: 27262981) Sirokmány G … Geiszt M (Free radical biology & medicine 2016) 3 58

Products for DUOXA1 Gene

Sources for DUOXA1 Gene

Loading form....