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Gene id 90527
Gene Summary    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol DUOXA1   Gene   UCSC   Ensembl
Aliases NIP, NUMBIP, mol
Gene name dual oxidase maturation factor 1
Alternate names dual oxidase maturation factor 1, dual oxidase activator 1, dual oxidase maturation factor 1 alpha, dual oxidase maturation factor 1 beta, dual oxidase maturation factor 1 delta, dual oxidase maturation factor 1 gamma, homolog of Drosophila Numb-interacting pro,
Gene location 15q21.1 (45129937: 45117365)     Exons: 12     NC_000015.10
Gene summary(Entrez) Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the

Protein Summary

Protein general information Q1HG43  

Name: Dual oxidase maturation factor 1 (Dual oxidase activator 1) (Numb interacting protein)

Length: 343  Mass: 37815

Tissue specificity: Specifically expressed in thyroid gland. Also detected in esophagus. {ECO

Sequence MATLGHTFPFYAGPKPTFPMDTTLASIIMIFLTALATFIVILPGIRGKTRLFWLLRVVTSLFIGAAILAVNFSSE
WSVGQVSTNTSYKAFSSEWISADIGLQVGLGGVNITLTGTPVQQLNETINYNEEFTWRLGENYAEEYAKALEKGL
PDPVLYLAEKFTPRSPCGLYRQYRLAGHYTSAMLWVAFLCWLLANVMLSMPVLVYGGYMLLATGIFQLLALLFFS
MATSLTSPCPLHLGASVLHTHHGPAFWITLTTGLLCVLLGLAMAVAHRMQPHRLKAFFNQSVDEDPMLEWSPEEG
GLLSPRYRSMADSPKSQDIPLSEASSTKAYCKEAHPKDPDCAL
Structural information
Interpro:  IPR018469  
STRING:   ENSP00000267803
Other Databases GeneCards:  DUOXA1  Malacards:  DUOXA1

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0016020 membrane
IBA cellular component
GO:0005789 endoplasmic reticulum mem
brane
IEA cellular component
GO:0015031 protein transport
IEA biological process
GO:0016021 integral component of mem
brane
IEA cellular component
GO:0016021 integral component of mem
brane
IEA cellular component
GO:0015031 protein transport
IEA biological process
GO:0016020 membrane
IEA cellular component
GO:0050727 regulation of inflammator
y response
IEA biological process
GO:0045666 positive regulation of ne
uron differentiation
IEA biological process
GO:0042743 hydrogen peroxide metabol
ic process
IEA biological process
GO:2000609 regulation of thyroid hor
mone generation
IEA biological process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IEA biological process
GO:0005886 plasma membrane
IEA cellular component
GO:0016020 membrane
IEA cellular component
GO:0034613 cellular protein localiza
tion
IGI biological process
GO:0010729 positive regulation of hy
drogen peroxide biosynthe
tic process
IMP biological process
GO:0008104 protein localization
IGI biological process
GO:0008104 protein localization
IGI biological process
Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract