Gene Gene information from NCBI Gene database.
Entrez ID 53905
Gene name Dual oxidase 1
Gene symbol DUOX1
Synonyms (NCBI Gene)
LNOX1NOXEF1THOX1
Chromosome 15
Chromosome location 15q21.1
Summary 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 tra
miRNA miRNA information provided by mirtarbase database.
45
miRTarBase ID miRNA Experiments Reference
MIRT947272 hsa-miR-151-3p CLIP-seq
MIRT947273 hsa-miR-3152-3p CLIP-seq
MIRT947274 hsa-miR-342-5p CLIP-seq
MIRT947275 hsa-miR-4463 CLIP-seq
MIRT947276 hsa-miR-4499 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0004601 Function Peroxidase activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 19339556, 33420071
GO:0005783 Component Endoplasmic reticulum IDA 19339556
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606758 3062 ENSG00000137857
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRD9
Protein name Dual oxidase 1 (EC 1.11.1.-) (EC 1.6.3.1) (Large NOX 1) (Long NOX 1) (NADPH thyroid oxidase 1) (Thyroid oxidase 1)
Protein 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 it
PDB 7D3E , 7D3F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03098 An_peroxidase 29 557 Animal haem peroxidase Domain
PF00036 EF-hand_1 819 847 EF hand Domain
PF00036 EF-hand_1 856 883 EF hand Domain
PF01794 Ferric_reduct 1087 1236 Ferric reductase like transmembrane component Family
PF08022 FAD_binding_8 1272 1374 FAD-binding domain Domain
PF08030 NAD_binding_6 1380 1534 Ferric reductase NAD binding domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:10806195, ECO:000
Sequence
MGFCLALAWTLLVGAWTPLGAQNPISWEVQRFDGWYNNLMEHRWGSKGSRLQRLVPASYA
DGVYQPLGEPHLPNPRDLSNTISRGPAGLASLRNRTVLGVFFGYHVLSDLVSVETPGCPA
EFLNIRIPPGDPMFDPDQRGDVVLPFQRSRWDPETGRSPSNPRDPANQVTGWLDGSAIYG
SSHSWSDALRSFSRGQLASGPDPAFPRDSQNPLLMWAAPDPATGQNGPRGLYAFGAERGN
REPFLQALGLLWFRYHNLWAQRLARQHPDWEDEELFQHARKRVIATYQNIAVYEWLPSFL
QKTLPEYTGYRPFLDPSISSEFVAASEQFLSTMVPPGVYMRNASCHFQGVINRNSSVSRA
LRVCNSYWSREHPSLQSAEDVDALLLGMASQIAEREDHVLVEDVRDFWPGPLKFSRTDHL
ASCLQRGRDLGLPSYTKARAALGLSPITRWQDINPALSRSNDTVLEATAALYNQDLSWLE
LLPGGLLESHRDPGPLFSTIVLEQFVRLRDGDRYWFENTRNGLFSKKEIEEIRNTTLQDV
LVAVINIDPSALQPNVF
VWHKGDPCPQPRQLSTEGLPACAPSVVRDYFEGSGFGFGVTIG
TLCCFPLVSLLSAWIVARLRMRNFKRLQGQDRQSIVSEKLVGGMEALEWQGHKEPCRPVL
VYLQPGQIRVVDGRLTVLRTIQLQPPQKVNFVLSSNRGRRTLLLKIPKEYDLVLLFNLEE
ERQALVENLRGALKESGLSIQEWELREQELMRAAVTREQRRHLLETFFRHLFSQVLDINQ
ADAGTLPLDSSQKVREALTCELSRAEFAESLGLKPQDMFVESMFSLADKDGNGYLSFREF
LDILVVF
MKGSPEEKSRLMFRMYDFDGNGLISKDEFIRMLRSFIEISNNCLSKAQLAEVV
ESMFRESGFQDKEELTWEDFHFMLRDHNSELRFTQLCVKGVEVPEVIKDLCRRASYISQD
MICPSPRVSARCSRSDIETELTPQRLQCPMDTDPPQEIRRRFGKKVTSFQPLLFTEAHRE
KFQRSCLHQTVQQFKRFIENYRRHIGCVAVFYAIAGGLFLERAYYYAFAAHHTGITDTTR
VGIILSRGTAASISFMFSYILLTMCRNLITFLRETFLNRYVPFDAAVDFHRLIASTAIVL
TVLHSVGHVVNVYLFSISPLSVLSCLFPGLFHDDGSELPQKYYWWFFQTVPGLTGVVLLL
ILAIMYVFASHHFRRRSFRGFWLTHHLYILLYVLLI
IHGSFALIQLPRFHIFFLVPAIIY
GGDKLVSLSRKKVEISVVKAELLPSGVTHLRFQRPQGFEYKSGQWVRIACLALGTTEYHP
FTLTSAPHEDTLSLHIRAAGPWTTRLREIYSAPTGDRCARYPKLYLDGPFGEGH
QEWHKF
EVSVLVGGGIGVTPFASILKDLVFKSSVSCQVFCKKIYFIWVTRTQRQFEWLADIIREVE
ENDHQDLVSVHIYITQLAEKFDLRTTMLYICERHFQKVLNRSLFTGLRSITHFGRPPFEP
FFNSLQEVHPQVRKIGVFSCGPPGMTKNVEKACQ
LINRQDRTHFSHHYENF
Sequence length 1551
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thyroid hormone synthesis   Thyroxine biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUOX1-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 18281478
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29781053
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 30172425
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 27815990
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30615595
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 26988591, 27634835
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 27815990, 29861101
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29849884
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29849884 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 21915726 Associate
★☆☆☆☆
Found in Text Mining only