DUOX1 - dual oxidase 1 Gene

Also Known as LNOX1; THOX1; NOXEF1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 53905

About DUOX1

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,129,994-45,165,574 (from NCBI)

This gene has 13 transcripts (splice variants), 94 orthologues and 6 paralogues. Biased expression in skin (RPKM 27.3), thyroid (RPKM 26.8) and 8 other tissues.

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]

DUOX1 Products (2)

mRNA	Protein	Name
NM_017434.5	NP_059130.2	dual oxidase 1 precursor
NM_175940.3	NP_787954.1	dual oxidase 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19339556	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cuticle development	IMP IMP: Inferred from mutant phenotype	11514595	GOA
involved in cytokine-mediated signaling pathway	IDA IDA: Inferred from direct assay	16111680	GOA
involved in hydrogen peroxide biosynthetic process	IGI IGI: Inferred from genetic interaction	19339556	GOA
involved in positive regulation of cell motility	IGI IGI: Inferred from genetic interaction	19339556	GOA
involved in positive regulation of wound healing	IGI IGI: Inferred from genetic interaction	19339556	GOA
involved in response to cAMP	IDA IDA: Inferred from direct assay	15062544	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell leading edge	IGI IGI: Inferred from genetic interaction	19339556	GOA
located in cell surface	IGI IGI: Inferred from genetic interaction	22814254	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19339556	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	19339556	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DUOX1 Protein Structure

An_peroxidase

EF-hand_7

Ferric_reduct

FAD_binding_8

NAD_binding_6

0
300
600
900
1200
1551 a.a.

Protein Preferred Names	Protein Names
dual oxidase 1	NADPH thyroid oxidase 1

DUOX1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DUOX1	Q9NRD9	DUOXA1	Homo sapiens	Q1HG43	GMS	33420071
Intra	DUOX1	Q9NRD9	DUOXA1	Homo sapiens	Q1HG43	UV-VIS	33420071
Intra	DUOX1	Q9NRD9	DUOXA1	Homo sapiens	Q1HG43	3D-EM	33420071

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Cyba Deficiency CGD4 Cgd Due To Deficiency Of The Alpha Subunit Of Cytochrome B Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative Cgd, Autosomal Recessive Cytochrome B-Negative Chronic Granulomatous Disease 4, Autosomal Recessive Autosomal Recessive Chronic Granulomatous Disease 4 Autosomal Recessive Cytochrome B-Negative Cgd Chronic Granulomatous Disease Due To Deficiency Of Cyba Cgd Due To Deficiency Of Alpha Subunit Of Cytochrome B Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive
Phagocyte Bactericidal Dysfunction	Phagocytic Dysfunction
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Granulomatous Disease, Chronic, X-Linked	CGDX Chronic Granulomatous Disease, X-Linked X-Linked Chronic Granulomatous Disease Cgd Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked Cdgx X-Linked Chronic Cytochrome B-Negative Granulomatous Disease Chronic Granulomatous Disease Cytochrome B-Negative X-Linked Chronic Granulomatous Disease Cytochrome B-Positive X-Linked Granulomatous Disease, Chronic, X-Linked, Variant
Chronic Granulomatous Disease	Cgd Granulomatous Disease, Chronic Autosomal Recessive Chronic Granulomatous Disease X-Linked Chronic Granulomatous Disease Bridges-Good Syndrome Congenital Dysphagocytosis Quie Syndrome Chronic Septic Granulomatosis Chronic Granulomatous Disorder Granulomatous Disease Chronic Granulomatous Disease, Chronic, X-Linked
Lung Disease	Lung Diseases Disorder Of Lung Abnormality Of The Lung
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-174817	NOX5-IN-1	Inhibitor	/	Unkown
HY-174818	NOX5-IN-2	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DUOX1	VGNC	VGNC:28241
Canis familiaris	DUOX1	VGNC	VGNC:40120
Rattus norvegicus	DUOX1	RGD	RGD:628760
Macaca mulatta	DUOX1	VGNC	VGNC:72009
Mus musculus	DUOX1	MGD	MGI:2139422
Felis catus	DUOX1	VGNC	VGNC:61653
Others	DUOX1	NCBI