• Gene id: 53905

Gene Summary

• Gene Symbol: DUOX1   Gene   UCSC   Ensembl
• Aliases: LNOX1, NOXEF1, THOX1
• Gene name: dual oxidase 1
• Alternate names: dual oxidase 1, NADPH thyroid oxidase 1, flavoprotein NADPH oxidase, large NOX 1, long NOX 1, nicotinamide adenine dinucleotide phosphate oxidase, thyroid oxidase 1,
• Gene location: 15q21.1 (45129993: 45165577)     Exons: 35     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 300308

Protein Summary

• Protein general information: Q9NRD9  
  • 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)
  • Length: 1551  
  • Mass: 177235
  • 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
• Sequence:

  MGFCLALAWTLLVGAWTPLGAQNPISWEVQRFDGWYNNLMEHRWGSKGSRLQRLVPASYADGVYQPLGEPHLPNP
  RDLSNTISRGPAGLASLRNRTVLGVFFGYHVLSDLVSVETPGCPAEFLNIRIPPGDPMFDPDQRGDVVLPFQRSR
  WDPETGRSPSNPRDPANQVTGWLDGSAIYGSSHSWSDALRSFSRGQLASGPDPAFPRDSQNPLLMWAAPDPATGQ
  NGPRGLYAFGAERGNREPFLQALGLLWFRYHNLWAQRLARQHPDWEDEELFQHARKRVIATYQNIAVYEWLPSFL
  QKTLPEYTGYRPFLDPSISSEFVAASEQFLSTMVPPGVYMRNASCHFQGVINRNSSVSRALRVCNSYWSREHPSL
  QSAEDVDALLLGMASQIAEREDHVLVEDVRDFWPGPLKFSRTDHLASCLQRGRDLGLPSYTKARAALGLSPITRW
  QDINPALSRSNDTVLEATAALYNQDLSWLELLPGGLLESHRDPGPLFSTIVLEQFVRLRDGDRYWFENTRNGLFS
  KKEIEEIRNTTLQDVLVAVINIDPSALQPNVFVWHKGDPCPQPRQLSTEGLPACAPSVVRDYFEGSGFGFGVTIG
  TLCCFPLVSLLSAWIVARLRMRNFKRLQGQDRQSIVSEKLVGGMEALEWQGHKEPCRPVLVYLQPGQIRVVDGRL
  TVLRTIQLQPPQKVNFVLSSNRGRRTLLLKIPKEYDLVLLFNLEEERQALVENLRGALKESGLSIQEWELREQEL
  MRAAVTREQRRHLLETFFRHLFSQVLDINQADAGTLPLDSSQKVREALTCELSRAEFAESLGLKPQDMFVESMFS
  LADKDGNGYLSFREFLDILVVFMKGSPEEKSRLMFRMYDFDGNGLISKDEFIRMLRSFIEISNNCLSKAQLAEVV
  ESMFRESGFQDKEELTWEDFHFMLRDHNSELRFTQLCVKGVEVPEVIKDLCRRASYISQDMICPSPRVSARCSRS
  DIETELTPQRLQCPMDTDPPQEIRRRFGKKVTSFQPLLFTEAHREKFQRSCLHQTVQQFKRFIENYRRHIGCVAV
  FYAIAGGLFLERAYYYAFAAHHTGITDTTRVGIILSRGTAASISFMFSYILLTMCRNLITFLRETFLNRYVPFDA
  AVDFHRLIASTAIVLTVLHSVGHVVNVYLFSISPLSVLSCLFPGLFHDDGSELPQKYYWWFFQTVPGLTGVVLLL
  ILAIMYVFASHHFRRRSFRGFWLTHHLYILLYVLLIIHGSFALIQLPRFHIFFLVPAIIYGGDKLVSLSRKKVEI
  SVVKAELLPSGVTHLRFQRPQGFEYKSGQWVRIACLALGTTEYHPFTLTSAPHEDTLSLHIRAAGPWTTRLREIY
  SAPTGDRCARYPKLYLDGPFGEGHQEWHKFEVSVLVGGGIGVTPFASILKDLVFKSSVSCQVFCKKIYFIWVTRT
  QRQFEWLADIIREVEENDHQDLVSVHIYITQLAEKFDLRTTMLYICERHFQKVLNRSLFTGLRSITHFGRPPFEP
  FFNSLQEVHPQVRKIGVFSCGPPGMTKNVEKACQLINRQDRTHFSHHYENF

• Structural information:
  • Protein Domains: (815..85-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (851..88-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (895..93-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR029595  IPR034821  IPR011992  IPR018247  IPR002048   IPR013112  IPR017927  IPR013130  IPR013121  IPR039261  IPR019791  IPR010255  IPR037120  IPR017938  
  • Prosite: PS00018 PS50222 PS51384 PS50292
  • CDD: cd09820 cd00051
  • STRING: ENSP00000317997
• Other Databases: GeneCards:  DUOX1  Malacards:  DUOX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055114	oxidation-reduction process	IBA	biological process
GO:0042554	superoxide anion generation	IBA	biological process
GO:0006952	defense response	IBA	biological process
GO:0043020	NADPH oxidase complex	IBA	cellular component
GO:0016175	superoxide-generating NADPH oxidase activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016174	NAD(P)H oxidase (H(2)O(2)-forming activity	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0050665	hydrogen peroxide biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004601	peroxidase activity	IEA	molecular function
GO:0006979	response to oxidative stress	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0042446	hormone biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004601	peroxidase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0042744	hydrogen peroxide catabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016174	NAD(P)H oxidase (H(2)O(2)-forming activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006590	thyroid hormone generation	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0072593	reactive oxygen species metabolic process	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0006590	thyroid hormone generation	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0019221	cytokine-mediated signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0051591	response to cAMP	IDA	biological process
GO:0031252	cell leading edge	IGI	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042335	cuticle development	IMP	biological process
GO:0016324	apical plasma membrane	NAS	cellular component
GO:0055114	oxidation-reduction process	TAS	biological process
GO:0050665	hydrogen peroxide biosynthetic process	NAS	biological process
GO:0050661	NADP binding	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051591	response to cAMP	ISS	biological process
GO:2000147	positive regulation of cell motility	IGI	biological process
GO:0050665	hydrogen peroxide biosynthetic process	IGI	biological process
GO:0042554	superoxide anion generation	NAS	biological process
GO:0016174	NAD(P)H oxidase (H(2)O(2)-forming activity	NAS	molecular function
GO:0090303	positive regulation of wound healing	IGI	biological process
GO:0009986	cell surface	IGI	cellular component
GO:0050665	hydrogen peroxide biosynthetic process	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0009986	cell surface	IGI	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04918	Thyroid hormone synthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq