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DUOX1 dual oxidase 1 [ Homo sapiens (human) ]

Gene ID: 53905, updated on 11-Sep-2019

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
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

Genomic context

See DUOX1 in Genome Data Viewer
Location:
15q21.1
Exon count:
35
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (45129994..45165578)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45422192..45457776)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene dual oxidase 2 Neighboring gene dual oxidase maturation factor 2 Neighboring gene dual oxidase maturation factor 1 Neighboring gene Src homology 2 domain containing F Neighboring gene tRNA-His (anticodon GTG) 1-7 Neighboring gene tRNA-His (anticodon GTG) 1-8

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Amine-derived hormones, organism-specific biosystem (from REACTOME)
    Amine-derived hormones, organism-specific biosystemCatecholamines and thyroxine are synthesized from tyrosine, and serotonin and melatonin from tryptophan.
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Thyroxine biosynthesis, organism-specific biosystem (from REACTOME)
    Thyroxine biosynthesis, organism-specific biosystemThyroxine (3,5,3',5'-tetraiodothyronine, T4) promotes normal growth and development. It also regulates heat and energy production. T4 is released from the thyroid gland, the largest endocrine organ i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138840, MGC138841

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD(P)H oxidase activity NAS
Non-traceable Author Statement
more info
PubMed 
NADP binding NAS
Non-traceable Author Statement
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
heme binding IEA
Inferred from Electronic Annotation
more info
 
peroxidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
superoxide-generating NADPH oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
cuticle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokine-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
defense response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hormone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
hydrogen peroxide biosynthetic process IGI
Inferred from Genetic Interaction
more info
PubMed 
hydrogen peroxide biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
hydrogen peroxide catabolic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cell motility IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of wound healing IGI
Inferred from Genetic Interaction
more info
PubMed 
response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
response to cAMP ISS
Inferred from Sequence or Structural Similarity
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
superoxide anion generation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
superoxide anion generation NAS
Non-traceable Author Statement
more info
PubMed 
thyroid hormone generation IEA
Inferred from Electronic Annotation
more info
 
thyroid hormone generation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
NADPH oxidase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
cell leading edge IGI
Inferred from Genetic Interaction
more info
PubMed 
cell surface IGI
Inferred from Genetic Interaction
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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
NP_787954.1
XP_011519983.1
XP_011519984.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_017434.5NP_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
    Q9NRD9
    Related
    ENSP00000317997.4, ENST00000321429.8
    Conserved Domains (6) summary
    cd06186
    Location:12771551
    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:32591
    dual_peroxidase_like; Dual oxidase and related animal heme peroxidases
    cd00051
    Location:820881
    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:10911226
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03098
    Location:30544
    An_peroxidase; Animal haem peroxidase
    pfam13499
    Location:820880
    EF-hand_7; EF-hand domain pair
  2. NM_175940.3NP_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
    Q9NRD9
    Related
    ENSP00000373689.3, ENST00000389037.7
    Conserved Domains (6) summary
    cd06186
    Location:12771551
    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:32591
    dual_peroxidase_like; Dual oxidase and related animal heme peroxidases
    cd00051
    Location:820881
    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:10911226
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03098
    Location:30544
    An_peroxidase; Animal haem peroxidase
    pfam13499
    Location:820880
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    45129994..45165578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521681.2XP_011519983.1  dual oxidase 1 isoform X1

    Conserved Domains (6) summary
    cd06186
    Location:12381512
    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:3552
    dual_peroxidase_like; Dual oxidase and related animal heme peroxidases
    cd00051
    Location:781842
    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:10521187
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03098
    Location:3505
    An_peroxidase; Animal haem peroxidase
    pfam13499
    Location:781841
    EF-hand_7; EF-hand domain pair
  2. XM_011521682.1XP_011519984.1  dual oxidase 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NRD9
    Related
    ENSP00000454065.1, ENST00000561166.1
    Conserved Domains (5) summary
    cd06186
    Location:9231197
    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:466527
    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:52237
    An_peroxidase_like; Animal heme peroxidases and related proteins
    pfam01794
    Location:737872
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam13499
    Location:466526
    EF-hand_7; EF-hand domain pair
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