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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 (Dual Oxidase 1) is a Protein Coding gene. Diseases associated with DUOX1 include Congenital Hypothyroidism and Granulomatous Disease, Chronic, Autosomal Dominant Type. Among its related pathways are Aldosterone synthesis and secretion and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include calcium ion binding and heme binding. An important paralog of this gene is DUOX2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004601 | peroxidase activity | IEA | -- |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 19339556 |
GO:0016174 | NAD(P)H oxidase activity | NAS | 10806195 |
GO:0016175 | superoxide-generating NADPH oxidase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IDA | 19339556 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0009986 | cell surface | IGI | 22814254 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amine-derived hormones | ||
2 | Aldosterone synthesis and secretion | ||
3 | Metabolism |
.40
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4 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006590 | thyroid hormone generation | TAS | -- |
GO:0006952 | defense response | IBA | 21873635 |
GO:0006979 | response to oxidative stress | IEA | -- |
GO:0019221 | cytokine-mediated signaling pathway | IDA | 16111680 |
GO:0042335 | cuticle development | IMP | 11514595 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DUOX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DUOX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DUOX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Duox1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Duox1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | DUOX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DUOX2 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | duox1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | duox 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Duox 31 |
|
OneToMany | |
CG3131 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | bli-3 31 |
|
ManyToMany | |
duox-2 31 |
|
ManyToMany | |||
F56C11.1 32 |
|
|
|||
F53G12.3 32 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RBOHA 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0360200 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711618 | Benign: not provided | 45,139,607(+) | G/A | INTRON_VARIANT | |
711619 | Benign: not provided | 45,142,087(+) | C/T | SYNONYMOUS_VARIANT | |
711620 | Benign: not provided | 45,142,111(+) | G/A | SYNONYMOUS_VARIANT | |
718755 | Benign: not provided | 45,162,371(+) | T/C | SYNONYMOUS_VARIANT | |
737484 | Likely Benign: not provided | 45,153,477(+) | T/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1002924 | CNV | deletion | 20482838 |
esv2760029 | CNV | gain+loss | 17122850 |
esv3406380 | CNV | insertion | 20981092 |
esv3414549 | CNV | insertion | 20981092 |
nsv457125 | CNV | loss | 19166990 |
nsv518213 | CNV | gain | 19592680 |
nsv520580 | CNV | loss | 19592680 |
nsv569312 | CNV | loss | 21841781 |
nsv569313 | CNV | gain | 21841781 |
nsv569314 | CNV | loss | 21841781 |
nsv569315 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital hypothyroidism |
|
|
granulomatous disease, chronic, autosomal dominant type |
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative |
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|
cardiomyopathy, familial hypertrophic, 2 |
|
|
granulomatous disease, chronic, x-linked |
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|