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Q1HG43

- DOXA1_HUMAN

UniProt

Q1HG43 - DOXA1_HUMAN

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Protein

Dual oxidase maturation factor 1

Gene

DUOXA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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

  1. hydrogen peroxide metabolic process Source: Ensembl
  2. positive regulation of neuron differentiation Source: Ensembl
  3. positive regulation of reactive oxygen species metabolic process Source: Ensembl
  4. protein transport Source: UniProtKB-KW
  5. regulation of inflammatory response Source: Ensembl
  6. regulation of thyroid hormone generation Source: Ensembl
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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:26507. DUOXA1.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: InterPro
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145008497.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 343343Dual oxidase maturation factor 1PRO_0000264241Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi84 – 841N-linked (GlcNAc...)Sequence Analysis
Glycosylationi109 – 1091N-linked (GlcNAc...)Sequence Analysis
Glycosylationi121 – 1211N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ1HG43.
PRIDEiQ1HG43.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ1HG43.
CleanExiHS_DUOXA1.
ExpressionAtlasiQ1HG43. baseline and differential.
GenevestigatoriQ1HG43.

Organism-specific databases

HPAiHPA041578.

Interactioni

Subunit structurei

May interact with NUMB.

Protein-protein interaction databases

BioGridi124731. 1 interaction.
STRINGi9606.ENSP00000267803.

Structurei

3D structure databases

ProteinModelPortaliQ1HG43.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2424ExtracellularSequence AnalysisAdd
BLAST
Topological domaini46 – 516CytoplasmicSequence Analysis
Topological domaini73 – 183111ExtracellularSequence AnalysisAdd
BLAST
Topological domaini205 – 2062CytoplasmicSequence Analysis
Topological domaini228 – 24922ExtracellularSequence AnalysisAdd
BLAST
Topological domaini271 – 34373CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei25 – 4521HelicalSequence AnalysisAdd
BLAST
Transmembranei52 – 7221HelicalSequence AnalysisAdd
BLAST
Transmembranei184 – 20421HelicalSequence AnalysisAdd
BLAST
Transmembranei207 – 22721HelicalSequence AnalysisAdd
BLAST
Transmembranei250 – 27021HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the DUOXA family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG282651.
GeneTreeiENSGT00390000008240.
HOGENOMiHOG000231775.
HOVERGENiHBG080429.
InParanoidiQ1HG43.
KOiK17233.
OMAiKPTFPMD.
OrthoDBiEOG73NG3Q.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti19 – 191P → L.
Corresponds to variant rs34734975 [ dbSNP | Ensembl ].
VAR_057753
Natural varianti313 – 3131S → G.
Corresponds to variant rs16977686 [ dbSNP | Ensembl ].
VAR_029630

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei69 – 11345Missing in isoform 3. 2 PublicationsVSP_021890Add
BLAST
Alternative sequencei331 – 34313CKEAH…PDCAL → YRPRRLSLVPADVRGLAPAA LSALPGALLAQAWRALLPGL RCPKAGKESRLGPPHSPWRF GPEGCEERWAEHTGDSPRPL RGRGTGRLWRWGSKERRACG VRAMLPRLVSNSGLKRPSCL DLPKCWDYRRDARAFFHLLE PTPCVTSRHTPLI in isoform 2. 1 PublicationVSP_021891Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005254830.1. XM_005254773.2. [Q1HG43-1]
XP_006720806.1. XM_006720743.1. [Q1HG43-1]
XP_006720807.1. XM_006720744.1. [Q1HG43-1]
XP_006720808.1. XM_006720745.1. [Q1HG43-1]
XP_006720809.1. XM_006720746.1. [Q1HG43-1]
XP_006720810.1. XM_006720747.1. [Q1HG43-1]
XP_006720811.1. XM_006720748.1. [Q1HG43-1]
XP_006720812.1. XM_006720749.1. [Q1HG43-1]
XP_006720813.1. XM_006720750.1. [Q1HG43-1]
XP_006720814.1. XM_006720751.1. [Q1HG43-1]
XP_006720815.1. XM_006720752.1. [Q1HG43-1]
XP_006720816.1. XM_006720753.1. [Q1HG43-3]
XP_006720817.1. XM_006720754.1. [Q1HG43-3]
XP_006720818.1. XM_006720755.1. [Q1HG43-3]
XP_006720819.1. XM_006720756.1. [Q1HG43-1]
XP_006720820.1. XM_006720757.1. [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.
UCSCiuc001zuq.2. human. [Q1HG43-1]

Polymorphism databases

DMDMi119368662.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
DQ489735 mRNA. Translation: ABF48257.1 .
AK056896 mRNA. Translation: BAB71304.1 .
BC020841 mRNA. Translation: AAH20841.1 .
BC029819 mRNA. Translation: AAH29819.1 .
CCDSi CCDS10119.1. [Q1HG43-2 ]
CCDS61619.1. [Q1HG43-3 ]
CCDS61621.1. [Q1HG43-1 ]
RefSeqi NP_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_005254830.1. XM_005254773.2. [Q1HG43-1 ]
XP_006720806.1. XM_006720743.1. [Q1HG43-1 ]
XP_006720807.1. XM_006720744.1. [Q1HG43-1 ]
XP_006720808.1. XM_006720745.1. [Q1HG43-1 ]
XP_006720809.1. XM_006720746.1. [Q1HG43-1 ]
XP_006720810.1. XM_006720747.1. [Q1HG43-1 ]
XP_006720811.1. XM_006720748.1. [Q1HG43-1 ]
XP_006720812.1. XM_006720749.1. [Q1HG43-1 ]
XP_006720813.1. XM_006720750.1. [Q1HG43-1 ]
XP_006720814.1. XM_006720751.1. [Q1HG43-1 ]
XP_006720815.1. XM_006720752.1. [Q1HG43-1 ]
XP_006720816.1. XM_006720753.1. [Q1HG43-3 ]
XP_006720817.1. XM_006720754.1. [Q1HG43-3 ]
XP_006720818.1. XM_006720755.1. [Q1HG43-3 ]
XP_006720819.1. XM_006720756.1. [Q1HG43-1 ]
XP_006720820.1. XM_006720757.1. [Q1HG43-1 ]
UniGenei Hs.356664.

3D structure databases

ProteinModelPortali Q1HG43.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124731. 1 interaction.
STRINGi 9606.ENSP00000267803.

Polymorphism databases

DMDMi 119368662.

Proteomic databases

PaxDbi Q1HG43.
PRIDEi Q1HG43.

Protocols and materials databases

DNASUi 90527.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000267803 ; ENSP00000267803 ; ENSG00000140254 . [Q1HG43-2 ]
ENST00000558422 ; ENSP00000453836 ; ENSG00000140254 . [Q1HG43-3 ]
ENST00000558996 ; ENSP00000454019 ; ENSG00000140254 . [Q1HG43-3 ]
ENST00000559014 ; ENSP00000453569 ; ENSG00000140254 . [Q1HG43-2 ]
ENST00000560572 ; ENSP00000454084 ; ENSG00000140254 . [Q1HG43-1 ]
GeneIDi 90527.
KEGGi hsa:90527.
UCSCi uc001zuq.2. human. [Q1HG43-1 ]

Organism-specific databases

CTDi 90527.
GeneCardsi GC15M045409.
HGNCi HGNC:26507. DUOXA1.
HPAi HPA041578.
MIMi 612771. gene.
neXtProti NX_Q1HG43.
PharmGKBi PA145008497.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG282651.
GeneTreei ENSGT00390000008240.
HOGENOMi HOG000231775.
HOVERGENi HBG080429.
InParanoidi Q1HG43.
KOi K17233.
OMAi KPTFPMD.
OrthoDBi EOG73NG3Q.
PhylomeDBi Q1HG43.
TreeFami TF312996.

Miscellaneous databases

ChiTaRSi DUOXA1. human.
GenomeRNAii 90527.
NextBioi 76821.
PROi Q1HG43.
SOURCEi Search...

Gene expression databases

Bgeei Q1HG43.
CleanExi HS_DUOXA1.
ExpressionAtlasi Q1HG43. baseline and differential.
Genevestigatori Q1HG43.

Family and domain databases

InterProi IPR018469. Dual_oxidase_maturation_fac.
[Graphical view ]
Pfami PF10204. DuoxA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent."
    Grasberger H., Refetoff S.
    J. Biol. Chem. 281:18269-18272(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
    Tissue: Thyroid.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Prostate.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    Tissue: Brain and Lung.
  4. "A novel transmembrane protein recruits numb to the plasma membrane during asymmetric cell division."
    Qin H., Percival-Smith A., Li C., Jia C.Y.H., Gloor G., Li S.S.-C.
    J. Biol. Chem. 279:11304-11312(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NUMB.

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: October 29, 2014
This is version 70 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

External Data

Dasty 3