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DUOX1 dual oxidase 1 [ Homo sapiens (human) ]

Gene ID: 53905, updated on 7-Dec-2014
Official Symbol
DUOX1provided by HGNC
Official Full Name
dual oxidase 1provided by HGNC
Primary source
HGNC:HGNC:3062
See related
Ensembl:ENSG00000137857; HPRD:08421; MIM:606758; Vega:OTTHUMG00000171987
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]
See DUOX1 in Epigenomics, MapViewer
Location:
15q15.3
Exon count:
35
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 transfer RNA-His (GTG) 1-5 Neighboring gene transfer RNA-His (GTG) 1-6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

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
 
Process Evidence Code Pubs
cuticle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokine-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
hormone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
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 TAS
Traceable Author Statement
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
 
superoxide anion generation NAS
Non-traceable Author Statement
more info
PubMed 
thyroid hormone generation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
dual oxidase 1
Names
dual oxidase 1
long NOX 1
large NOX 1
thyroid oxidase 1
NADPH thyroid oxidase 1
flavoprotein NADPH oxidase
nicotinamide adenine dinucleotide phosphate oxidase
NP_059130.2
NP_787954.1

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_017434.4NP_059130.2  dual oxidase 1 precursor

    See proteins identical to 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, OTTHUMP00000247361, ENST00000321429, OTTHUMT00000416251
    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:10871226
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03098
    Location:30557
    An_peroxidase; Animal haem peroxidase
    pfam13499
    Location:825880
    EF-hand_7; EF-hand domain pair
  2. NM_175940.2NP_787954.1  dual oxidase 1 precursor

    See proteins identical to 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, OTTHUMP00000247362, ENST00000389037, OTTHUMT00000416252
    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:10871226
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam03098
    Location:30557
    An_peroxidase; Animal haem peroxidase
    pfam13499
    Location:825880
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000015.10 

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

mRNA and Protein(s)

  1. XM_005254463.1XP_005254520.1  

    Related
    ENSP00000454065, OTTHUMP00000247365, ENST00000561166, OTTHUMT00000416256
    Conserved Domains (5) summary
    cd06186
    Location:9611235
    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:504565
    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:771910
    Ferric_reduct; Ferric reductase like transmembrane component
    pfam13499
    Location:509564
    EF-hand_7; EF-hand domain pair
    cl14561
    Location:90275
    An_peroxidase_like; Animal heme peroxidases and related proteins

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 

    Range
    45540525..45576454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000147.1 

    Range
    22246405..22281985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)