DUOX1 dual oxidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DUOX1provided by HGNC
Official Full Name: dual oxidase 1provided by HGNC
Primary source: HGNC:HGNC:3062
See related: Ensembl:ENSG00000137857 MIM:606758; AllianceGenome:HGNC:3062
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LNOX1; THOX1; NOXEF1
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 transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]
Expression: Biased expression in skin (RPKM 27.3), thyroid (RPKM 26.8) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q21.1

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (45129994..45165574)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (42938016..42973584)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (45422192..45457772)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZC3H13 reduced DUOX1-mediated ferroptosis in laryngeal squamous cell carcinoma cells through m6A-dependent modification.
Title: ZC3H13 reduced DUOX1-mediated ferroptosis in laryngeal squamous cell carcinoma cells through m6A-dependent modification.
DUOX1 Gene Missense Mutation Confers Susceptibility on Type 2 Amiodarone-Induced Thyrotoxicosis.
Title: DUOX1 Gene Missense Mutation Confers Susceptibility on Type 2 Amiodarone-Induced Thyrotoxicosis.
Diet-induced obesity worsens allergen-induced type 2/type 17 inflammation in airways by enhancing DUOX1 activation.
Title: Diet-induced obesity worsens allergen-induced type 2/type 17 inflammation in airways by enhancing DUOX1 activation.
Dual NADPH oxidases DUOX1 and DUOX2 synthesize NAADP and are necessary for Ca(2+) signaling during T cell activation.
Title: Dual NADPH oxidases DUOX1 and DUOX2 synthesize NAADP and are necessary for Ca(2+) signaling during T cell activation.
Knockdown of dual oxidase 1 suppresses activin A-induced fibrosis in cardiomyocytes via the reactive oxygen species-dependent pyroptotic pathway.
Title: Knockdown of dual oxidase 1 suppresses activin A-induced fibrosis in cardiomyocytes via the reactive oxygen species-dependent pyroptotic pathway.
NADPH oxidase DUOX1 sustains TGF-beta1 signalling and promotes lung fibrosis.
Title: NADPH oxidase DUOX1 sustains TGF-β1 signalling and promotes lung fibrosis.
Downregulation of epithelial DUOX1 in chronic obstructive pulmonary disease.
Title: Downregulation of epithelial DUOX1 in chronic obstructive pulmonary disease.
Knockdown of Dual Oxidase 1 (DUOX1) Promotes Wound Healing by Regulating Reactive Oxygen Species (ROS) by Activation of Nuclear Kactor kappa B (NF-kappaB) Signaling.
Title: Knockdown of Dual Oxidase 1 (DUOX1) Promotes Wound Healing by Regulating Reactive Oxygen Species (ROS) by Activation of Nuclear Kactor kappa B (NF-κB) Signaling.
Structures of human dual oxidase 1 complex in low-calcium and high-calcium states.
Title: Structures of human dual oxidase 1 complex in low-calcium and high-calcium states.
DUOX1 and NOX2 expression are associated with mucosal immunity activated in cervical squamous cell carcinoma and predicts a favorable prognosis in cervical cancer patients.
Title: Dual oxidase 1 and NADPH oxidase 2 exert favorable effects in cervical cancer patients by activating immune response.

Submit: New GeneRIF Correction See all GeneRIFs (57)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFM189xg5 (e-PCR)
- UniSTS:25133

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

D1S1425 (e-PCR)
- UniSTS:149621

D16S325 (e-PCR)
- UniSTS:147089

IB532 (e-PCR)
- UniSTS:26363

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD(P)H oxidase H2O2-forming activity	NAS Non-traceable Author Statement more info	PubMed
enables NAD(P)H oxidase H2O2-forming activity	TAS Traceable Author Statement more info
enables NADH oxidase H202-forming activity	IEA Inferred from Electronic Annotation more info
enables NADP binding	NAS Non-traceable Author Statement more info	PubMed
enables NADPH oxidase H202-forming activity	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables peroxidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables superoxide-generating NAD(P)H oxidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in cuticle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response	IBA Inferred from Biological aspect of Ancestor more info
involved_in hormone biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in hydrogen peroxide biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in hydrogen peroxide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell motility	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of wound healing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cAMP	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info
involved_in superoxide anion generation	NAS Non-traceable Author Statement more info	PubMed
involved_in thyroid hormone generation	IEA Inferred from Electronic Annotation more info
involved_in thyroid hormone generation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in apical plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in cell leading edge	IGI Inferred from Genetic Interaction more info	PubMed
located_in cell surface	IGI Inferred from Genetic Interaction more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dual oxidase 1

Names: NADPH thyroid oxidase 1; flavoprotein NADPH oxidase; large NOX 1; long NOX 1; nicotinamide adenine dinucleotide phosphate oxidase; thyroid oxidase 1

NP_059130.2

EC 1.6.3.1

NP_787954.1

EC 1.6.3.1

XP_011519983.1

EC 1.6.3.1

XP_011519984.1

EC 1.6.3.1

XP_047288646.1

EC 1.6.3.1

XP_047288647.1

EC 1.6.3.1

XP_047288648.1

EC 1.6.3.1

XP_047288649.1

EC 1.6.3.1

XP_054234191.1

EC 1.6.3.1

XP_054234192.1

EC 1.6.3.1

XP_054234193.1

EC 1.6.3.1

XP_054234194.1

EC 1.6.3.1

XP_054234195.1

EC 1.6.3.1

XP_054234196.1

EC 1.6.3.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_017434.5 → NP_059130.2 dual oxidase 1 precursor

See identical proteins and their annotated locations for NP_059130.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC051619, AF213465, AF230495, CB852814

Consensus CDS

CCDS32221.1

UniProtKB/Swiss-Prot

A6NH28, Q14C94, Q6ZMB3, Q6ZR09, Q9NRD9, Q9NZC1

UniProtKB/TrEMBL

A8K2V7, Q14C85

Related

ENSP00000317997.4, ENST00000321429.8

Conserved Domains (6) summary

cd06186
Location:1277 → 1551

NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...

cd09820
Location:32 → 591

dual_peroxidase_like; Dual oxidase and related animal heme peroxidases

cd00051
Location:820 → 881

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam01794
Location:1091 → 1226

Ferric_reduct; Ferric reductase like transmembrane component

pfam03098
Location:30 → 544

An_peroxidase; Animal haem peroxidase

pfam13499
Location:820 → 880

EF-hand_7; EF-hand domain pair
NM_175940.3 → NP_787954.1 dual oxidase 1 precursor

See identical proteins and their annotated locations for NP_787954.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.

Source sequence(s)

AC051619, AF213465, AF230495, CB852814

Consensus CDS

CCDS32221.1

UniProtKB/Swiss-Prot

A6NH28, Q14C94, Q6ZMB3, Q6ZR09, Q9NRD9, Q9NZC1

UniProtKB/TrEMBL

A8K2V7, Q14C85

Related

ENSP00000373689.3, ENST00000389037.7

Conserved Domains (6) summary

cd06186
Location:1277 → 1551

NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...

cd09820
Location:32 → 591

dual_peroxidase_like; Dual oxidase and related animal heme peroxidases

cd00051
Location:820 → 881

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam01794
Location:1091 → 1226

Ferric_reduct; Ferric reductase like transmembrane component

pfam03098
Location:30 → 544

An_peroxidase; Animal haem peroxidase

pfam13499
Location:820 → 880

EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

45129994..45165574

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432690.1 → XP_047288646.1 dual oxidase 1 isoform X1

UniProtKB/Swiss-Prot

A6NH28, Q14C94, Q6ZMB3, Q6ZR09, Q9NRD9, Q9NZC1
XM_047432691.1 → XP_047288647.1 dual oxidase 1 isoform X1

UniProtKB/Swiss-Prot

A6NH28, Q14C94, Q6ZMB3, Q6ZR09, Q9NRD9, Q9NZC1
XM_011521681.3 → XP_011519983.1 dual oxidase 1 isoform X2

UniProtKB/TrEMBL

A8K2V7, Q14C85

Conserved Domains (6) summary

cd06186
Location:1238 → 1512

NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...

cd09820
Location:3 → 552

dual_peroxidase_like; Dual oxidase and related animal heme peroxidases

cd00051
Location:781 → 842

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

pfam01794
Location:1052 → 1187

Ferric_reduct; Ferric reductase like transmembrane component

pfam03098
Location:3 → 505

An_peroxidase; Animal haem peroxidase

pfam13499
Location:781 → 841

EF-hand_7; EF-hand domain pair
XM_047432693.1 → XP_047288649.1 dual oxidase 1 isoform X1

UniProtKB/Swiss-Prot

A6NH28, Q14C94, Q6ZMB3, Q6ZR09, Q9NRD9, Q9NZC1
XM_047432692.1 → XP_047288648.1 dual oxidase 1 isoform X1

UniProtKB/Swiss-Prot

A6NH28, Q14C94, Q6ZMB3, Q6ZR09, Q9NRD9, Q9NZC1
XM_011521682.2 → XP_011519984.1 dual oxidase 1 isoform X3

Related

ENSP00000454065.1, ENST00000561166.1

Conserved Domains (5) summary

cd06186
Location:923 → 1197

NOX_Duox_like_FAD_NADP; NADPH oxidase (NOX) catalyzes the generation of reactive oxygen species (ROS) such as superoxide and hydrogen peroxide. ROS were originally identified as bactericidal agents in phagocytes, but are now also implicated in cell signaling and metabolism. NOX ...

cd00051
Location:466 → 527

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl14561
Location:52 → 237

An_peroxidase_like; Animal heme peroxidases and related proteins

pfam01794
Location:737 → 872

Ferric_reduct; Ferric reductase like transmembrane component

pfam13499
Location:466 → 526

EF-hand_7; EF-hand domain pair