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Protein

Dual oxidase maturation factor 1

Gene

DUOXA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May be required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of functional DUOX1.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Dual oxidase maturation factor 1
Alternative name(s):
Dual oxidase activator 1
Numb-interacting protein
Gene namesi
Name:DUOXA1
Synonyms:NIP, NUMBIP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:26507. DUOXA1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 24ExtracellularSequence analysisAdd BLAST24
Transmembranei25 – 45HelicalSequence analysisAdd BLAST21
Topological domaini46 – 51CytoplasmicSequence analysis6
Transmembranei52 – 72HelicalSequence analysisAdd BLAST21
Topological domaini73 – 183ExtracellularSequence analysisAdd BLAST111
Transmembranei184 – 204HelicalSequence analysisAdd BLAST21
Topological domaini205 – 206CytoplasmicSequence analysis2
Transmembranei207 – 227HelicalSequence analysisAdd BLAST21
Topological domaini228 – 249ExtracellularSequence analysisAdd BLAST22
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Topological domaini271 – 343CytoplasmicSequence analysisAdd BLAST73

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi90527.
OpenTargetsiENSG00000140254.
PharmGKBiPA145008497.

Polymorphism and mutation databases

DMDMi119368662.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002642411 – 343Dual oxidase maturation factor 1Add BLAST343

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi84N-linked (GlcNAc...)Sequence analysis1
Glycosylationi109N-linked (GlcNAc...)Sequence analysis1
Glycosylationi121N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ1HG43.
PeptideAtlasiQ1HG43.
PRIDEiQ1HG43.

Expressioni

Tissue specificityi

Specifically expressed in thyroid gland. Also detected in esophagus.1 Publication

Gene expression databases

BgeeiENSG00000140254.
CleanExiHS_DUOXA1.
ExpressionAtlasiQ1HG43. baseline and differential.
GenevisibleiQ1HG43. HS.

Organism-specific databases

HPAiHPA041578.

Interactioni

Subunit structurei

May interact with NUMB.

Protein-protein interaction databases

BioGridi124731. 1 interactor.
STRINGi9606.ENSP00000267803.

Structurei

3D structure databases

ProteinModelPortaliQ1HG43.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DUOXA family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3921. Eukaryota.
ENOG410ZP7G. LUCA.
GeneTreeiENSGT00390000008240.
HOGENOMiHOG000231775.
HOVERGENiHBG080429.
InParanoidiQ1HG43.
KOiK17233.
OMAiKPTFPMD.
PhylomeDBiQ1HG43.
TreeFamiTF312996.

Family and domain databases

InterProiIPR018469. Dual_oxidase_maturation_fac.
[Graphical view]
PfamiPF10204. DuoxA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q1HG43-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MATLGHTFPF YAGPKPTFPM DTTLASIIMI FLTALATFIV ILPGIRGKTR
60 70 80 90 100
LFWLLRVVTS LFIGAAILAV NFSSEWSVGQ VSTNTSYKAF SSEWISADIG
110 120 130 140 150
LQVGLGGVNI TLTGTPVQQL NETINYNEEF TWRLGENYAE EYAKALEKGL
160 170 180 190 200
PDPVLYLAEK FTPRSPCGLY RQYRLAGHYT SAMLWVAFLC WLLANVMLSM
210 220 230 240 250
PVLVYGGYML LATGIFQLLA LLFFSMATSL TSPCPLHLGA SVLHTHHGPA
260 270 280 290 300
FWITLTTGLL CVLLGLAMAV AHRMQPHRLK AFFNQSVDED PMLEWSPEEG
310 320 330 340
GLLSPRYRSM ADSPKSQDIP LSEASSTKAY CKEAHPKDPD CAL
Length:343
Mass (Da):37,815
Last modified:June 13, 2006 - v1
Checksum:i38958512200260BE
GO
Isoform 2 (identifier: Q1HG43-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-343: CKEAHPKDPDCAL → YRPRRLSLVP...CVTSRHTPLI

Note: No experimental confirmation available.
Show »
Length:483
Mass (Da):53,519
Checksum:i54BEF64528B96C18
GO
Isoform 3 (identifier: Q1HG43-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     69-113: Missing.

Show »
Length:298
Mass (Da):33,111
Checksum:iD9B346C25D142E1D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05775319P → L.Corresponds to variant rs34734975dbSNPEnsembl.1
Natural variantiVAR_029630313S → G.Corresponds to variant rs16977686dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_02189069 – 113Missing in isoform 3. 2 PublicationsAdd BLAST45
Alternative sequenceiVSP_021891331 – 343CKEAH…PDCAL → YRPRRLSLVPADVRGLAPAA LSALPGALLAQAWRALLPGL RCPKAGKESRLGPPHSPWRF GPEGCEERWAEHTGDSPRPL RGRGTGRLWRWGSKERRACG VRAMLPRLVSNSGLKRPSCL DLPKCWDYRRDARAFFHLLE PTPCVTSRHTPLI in isoform 2. 1 PublicationAdd BLAST13

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ489735 mRNA. Translation: ABF48257.1.
AK056896 mRNA. Translation: BAB71304.1.
BC020841 mRNA. Translation: AAH20841.1.
BC029819 mRNA. Translation: AAH29819.1.
CCDSiCCDS10119.1. [Q1HG43-2]
CCDS61619.1. [Q1HG43-3]
CCDS61621.1. [Q1HG43-1]
RefSeqiNP_001263193.1. NM_001276264.1. [Q1HG43-2]
NP_001263194.1. NM_001276265.1.
NP_001263195.1. NM_001276266.1. [Q1HG43-1]
NP_001263196.1. NM_001276267.1. [Q1HG43-3]
NP_001263197.1. NM_001276268.1. [Q1HG43-3]
NP_653166.2. NM_144565.3. [Q1HG43-2]
XP_006720806.1. XM_006720743.3. [Q1HG43-1]
XP_006720808.1. XM_006720745.1. [Q1HG43-1]
XP_006720809.1. XM_006720746.1. [Q1HG43-1]
XP_006720810.1. XM_006720747.3. [Q1HG43-1]
XP_006720812.1. XM_006720749.1. [Q1HG43-1]
XP_006720814.1. XM_006720751.3. [Q1HG43-1]
XP_006720817.1. XM_006720754.1. [Q1HG43-3]
XP_006720818.1. XM_006720755.1. [Q1HG43-3]
XP_011520483.1. XM_011522181.2. [Q1HG43-1]
XP_011520484.1. XM_011522182.1. [Q1HG43-1]
XP_011520485.1. XM_011522183.2. [Q1HG43-1]
UniGeneiHs.356664.

Genome annotation databases

EnsembliENST00000267803; ENSP00000267803; ENSG00000140254. [Q1HG43-2]
ENST00000558422; ENSP00000453836; ENSG00000140254. [Q1HG43-3]
ENST00000558996; ENSP00000454019; ENSG00000140254. [Q1HG43-3]
ENST00000559014; ENSP00000453569; ENSG00000140254. [Q1HG43-2]
ENST00000560572; ENSP00000454084; ENSG00000140254. [Q1HG43-1]
GeneIDi90527.
KEGGihsa:90527.
UCSCiuc001zup.5. human. [Q1HG43-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ489735 mRNA. Translation: ABF48257.1.
AK056896 mRNA. Translation: BAB71304.1.
BC020841 mRNA. Translation: AAH20841.1.
BC029819 mRNA. Translation: AAH29819.1.
CCDSiCCDS10119.1. [Q1HG43-2]
CCDS61619.1. [Q1HG43-3]
CCDS61621.1. [Q1HG43-1]
RefSeqiNP_001263193.1. NM_001276264.1. [Q1HG43-2]
NP_001263194.1. NM_001276265.1.
NP_001263195.1. NM_001276266.1. [Q1HG43-1]
NP_001263196.1. NM_001276267.1. [Q1HG43-3]
NP_001263197.1. NM_001276268.1. [Q1HG43-3]
NP_653166.2. NM_144565.3. [Q1HG43-2]
XP_006720806.1. XM_006720743.3. [Q1HG43-1]
XP_006720808.1. XM_006720745.1. [Q1HG43-1]
XP_006720809.1. XM_006720746.1. [Q1HG43-1]
XP_006720810.1. XM_006720747.3. [Q1HG43-1]
XP_006720812.1. XM_006720749.1. [Q1HG43-1]
XP_006720814.1. XM_006720751.3. [Q1HG43-1]
XP_006720817.1. XM_006720754.1. [Q1HG43-3]
XP_006720818.1. XM_006720755.1. [Q1HG43-3]
XP_011520483.1. XM_011522181.2. [Q1HG43-1]
XP_011520484.1. XM_011522182.1. [Q1HG43-1]
XP_011520485.1. XM_011522183.2. [Q1HG43-1]
UniGeneiHs.356664.

3D structure databases

ProteinModelPortaliQ1HG43.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124731. 1 interactor.
STRINGi9606.ENSP00000267803.

Polymorphism and mutation databases

DMDMi119368662.

Proteomic databases

PaxDbiQ1HG43.
PeptideAtlasiQ1HG43.
PRIDEiQ1HG43.

Protocols and materials databases

DNASUi90527.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267803; ENSP00000267803; ENSG00000140254. [Q1HG43-2]
ENST00000558422; ENSP00000453836; ENSG00000140254. [Q1HG43-3]
ENST00000558996; ENSP00000454019; ENSG00000140254. [Q1HG43-3]
ENST00000559014; ENSP00000453569; ENSG00000140254. [Q1HG43-2]
ENST00000560572; ENSP00000454084; ENSG00000140254. [Q1HG43-1]
GeneIDi90527.
KEGGihsa:90527.
UCSCiuc001zup.5. human. [Q1HG43-1]

Organism-specific databases

CTDi90527.
DisGeNETi90527.
GeneCardsiDUOXA1.
HGNCiHGNC:26507. DUOXA1.
HPAiHPA041578.
MIMi612771. gene.
neXtProtiNX_Q1HG43.
OpenTargetsiENSG00000140254.
PharmGKBiPA145008497.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3921. Eukaryota.
ENOG410ZP7G. LUCA.
GeneTreeiENSGT00390000008240.
HOGENOMiHOG000231775.
HOVERGENiHBG080429.
InParanoidiQ1HG43.
KOiK17233.
OMAiKPTFPMD.
PhylomeDBiQ1HG43.
TreeFamiTF312996.

Miscellaneous databases

ChiTaRSiDUOXA1. human.
GenomeRNAii90527.
PROiQ1HG43.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140254.
CleanExiHS_DUOXA1.
ExpressionAtlasiQ1HG43. baseline and differential.
GenevisibleiQ1HG43. HS.

Family and domain databases

InterProiIPR018469. Dual_oxidase_maturation_fac.
[Graphical view]
PfamiPF10204. DuoxA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDOXA1_HUMAN
AccessioniPrimary (citable) accession number: Q1HG43
Secondary accession number(s): Q8N6K9, Q96MI4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 12, 2006
Last sequence update: June 13, 2006
Last modified: November 2, 2016
This is version 86 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.