DUOX1: Dual Oxidase 1 - Thyroid and Respiratory H2O2 Generator
Comprehensive gene card for DUOX1, including genomic context, expression, disease associations, and functional classification.
Gene Information Card
| Symbol | DUOX1 |
|---|---|
| Full Name | Dual Oxidase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 53905 ncbi.nlm.nih.gov/gene/53905 |
| Ensembl ID | ENSG00000137857 |
| UniProt ID | Q9NRD9 |
| OMIM ID | 606758 |
| HGNC ID | 3062 |
| Aliases | LNOX1, THOX1, NOXEF1 |
Description
DUOX1 (Dual Oxidase 1) encodes a member of the NADPH oxidase family that generates hydrogen peroxide (H2O2). This enzyme is essential for thyroid hormone synthesis, where it provides H2O2 to thyroid peroxidase (TPO). It is also expressed in the respiratory epithelium and salivary glands, contributing to host defense and mucosal immunity. DUOX1 requires maturation by DUOXA1 for functional activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital hypothyroidism (non-goitrous, type 6) | Loss-of-function mutations in DUOX1 impair H2O2 generation, reducing thyroid peroxidase activity and thyroid hormone synthesis. | OMIM #607200; ClinVar pathogenic variants |
| Thyroid dyshormonogenesis | Deficient H2O2 supply due to DUOX1 mutations leads to defective organification of iodide. | OMIM #274900; NCBI GeneReviews |
| Respiratory tract infections (susceptibility) | Reduced DUOX1 expression in airway epithelium compromises lactoperoxidase-mediated antimicrobial defense. | PubMed studies; expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.5 | High |
| Salivary gland | 8.2 | Medium |
| Trachea | 6.1 | Medium |
| Lung | 4.3 | Low |
| Esophagus | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H292 (lung epithelial) | 15.0 | High expression |
| HT-29 (colon) | 2.1 | Low expression |
| HeLa (cervical) | 1.5 | Very low |
| HEK293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1588C>T (p.Arg530*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.2065G>A (p.Gly689Arg) | Missense | <0.01% | Loss of function; impaired H2O2 production |
| c.3329G>A (p.Arg1110Gln) | Missense | <0.01% | Likely loss of function; reduced stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg530*, p.Gly689Arg) that abolish or severely reduce H2O2 generation, leading to congenital hypothyroidism.
Gain of Function (GOF)
Not reported in DUOX1.
Dominant Negative (DN)
Not reported; DUOX1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • NAD(P)H oxidase activity (GO:0016174) | • oxidoreductase activity (GO:0016491) |
| • response to hydrogen peroxide (GO:0042542) | • cytoplasm (GO:0005737) |
| • integral component of membrane (GO:0016021) | • thyroid hormone generation (GO:0006590) |
Pathways
• Thyroid hormone synthesis (Reactome R-HSA-209968)
• NADPH oxidase complex (Reactome R-HSA-5668599)
• Lactoperoxidase antimicrobial system (Reactome R-HSA-6798695)
Protein Summary
DUOX1 is a 1551-amino acid transmembrane glycoprotein localized to the plasma membrane. It contains an N-terminal peroxidase-like domain, six transmembrane helices, and a C-terminal NADPH oxidase domain. The protein functions as a heterodimer with DUOXA1, which is required for its maturation and trafficking. DUOX1 generates H2O2 at the apical membrane of thyroid follicular cells, supplying the substrate for TPO-catalyzed iodination of thyroglobulin. In the respiratory tract, DUOX1 supports the lactoperoxidase system to produce hypothiocyanite, an antimicrobial agent.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUOX1 Knockout HEK293 Cell Line | EDJ-KQ11365 | Human | 53905 | Details Get a Quote |
| DUOX1 Knockout HCT 116 Cell Line | EDJ-KQ39550 | Human | 53905 | Details Get a Quote |
| DUOX1 Knockout HeLa Cell Line | EDJ-KQ39551 | Human | 53905 | Details Get a Quote |
| DUOX1 Knockout A-549 Cell Line | EDJ-KQ64880 | Human | 53905 | Details Get a Quote |
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