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Q1HG43

- DOXA1_HUMAN

UniProt

Q1HG43 - DOXA1_HUMAN

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
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    • History
      Entry version 69 (01 Oct 2014)
      Sequence version 1 (13 Jun 2006)
      Previous versions | rss
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    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. positive regulation of neuron differentiation Source: Ensembl
    2. positive regulation of reactive oxygen species metabolic process Source: Ensembl
    3. protein transport Source: UniProtKB-KW

    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

    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

    ArrayExpressiQ1HG43.
    BgeeiQ1HG43.
    CleanExiHS_DUOXA1.
    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.
    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

    MATLGHTFPF YAGPKPTFPM DTTLASIIMI FLTALATFIV ILPGIRGKTR    50
    LFWLLRVVTS LFIGAAILAV NFSSEWSVGQ VSTNTSYKAF SSEWISADIG 100
    LQVGLGGVNI TLTGTPVQQL NETINYNEEF TWRLGENYAE EYAKALEKGL 150
    PDPVLYLAEK FTPRSPCGLY RQYRLAGHYT SAMLWVAFLC WLLANVMLSM 200
    PVLVYGGYML LATGIFQLLA LLFFSMATSL TSPCPLHLGA SVLHTHHGPA 250
    FWITLTTGLL CVLLGLAMAV AHRMQPHRLK AFFNQSVDED PMLEWSPEEG 300
    GLLSPRYRSM ADSPKSQDIP LSEASSTKAY CKEAHPKDPD CAL 343
    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.
    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

    ArrayExpressi Q1HG43.
    Bgeei Q1HG43.
    CleanExi HS_DUOXA1.
    Genevestigatori Q1HG43.

    Family and domain databases

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

    Publicationsi

    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 1, 2014
    This is version 69 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