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Q96PT3

- DUX5_HUMAN

UniProt

Q96PT3 - DUX5_HUMAN

Protein

Double homeobox protein 5

Gene

DUX5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 72 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi46 – 10560Homeobox 1PROSITE-ProRule annotationAdd
    BLAST
    DNA bindingi121 – 18060Homeobox 2PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding transcription factor activity Source: InterPro
    2. transcription regulatory region sequence-specific DNA binding Source: InterPro

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Double homeobox protein 5
    Gene namesi
    Name:DUX5
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:3083. DUX5.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27535.
    PA27539.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 197197Double homeobox protein 5PRO_0000252414Add
    BLAST

    Proteomic databases

    PRIDEiQ96PT3.

    Expressioni

    Tissue specificityi

    Expressed in hepatoma Hep3B cells.1 Publication

    Developmental stagei

    Expressed in fetal tissue.1 Publication

    Gene expression databases

    GenevestigatoriQ96PT3.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96PT3.
    SMRiQ96PT3. Positions 47-99, 120-177.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the paired homeobox family.Curated
    Contains 2 homeobox DNA-binding domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox, Repeat

    Phylogenomic databases

    HOVERGENiHBG081466.
    PhylomeDBiQ96PT3.

    Family and domain databases

    Gene3Di1.10.10.60. 2 hits.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 2 hits.
    [Graphical view]
    PRINTSiPR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 2 hits.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 2 hits.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96PT3-1) [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

    MPAEVHGSPP ASLCPCQSVK FRPGLPEMAL LTALDDTLPE EAQGPGRRMI    50
    LLSTPSQSDA LRACFERNLY PGIATKEELA QGIDIPEPRV QIWFQNERSC 100
    QLRQHRRQSR PWPGRRDPQK GRRKRTAITG SQTALLLRAF EKDRFPGIAA 150
    REELARETGL PESRIQIWFQ NRRARHRGQS GRAPTQASIR CNAAPIG 197
    Length:197
    Mass (Da):22,164
    Last modified:December 1, 2001 - v1
    Checksum:i9F20E036413853F4
    GO
    Isoform 2 (identifier: Q96PT3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-27: Missing.

    Show »
    Length:170
    Mass (Da):19,347
    Checksum:i7E3B34169B081F08
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti60 – 601A → V.
    Corresponds to variant rs10865697 [ dbSNP | Ensembl ].
    VAR_059347
    Natural varianti118 – 1181P → L.
    Corresponds to variant rs9755233 [ dbSNP | Ensembl ].
    VAR_059348
    Natural varianti119 – 1191Q → P.
    Corresponds to variant rs12374009 [ dbSNP | Ensembl ].
    VAR_059349
    Natural varianti180 – 1801S → A.
    Corresponds to variant rs12632317 [ dbSNP | Ensembl ].
    VAR_059350
    Natural varianti180 – 1801S → T.
    Corresponds to variant rs12632317 [ dbSNP | Ensembl ].
    VAR_059351

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2727Missing in isoform 2. CuratedVSP_020959Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF133131 Genomic DNA. Translation: AAD33598.1.
    AF133131 Genomic DNA. Translation: AAL02243.1.
    RefSeqiNP_036278.1. NM_012146.1. [Q96PT3-2]
    NP_036281.2. NM_012149.2. [Q96PT3-1]
    UniGeneiHs.274469.

    Genome annotation databases

    GeneIDi26581.
    26584.
    KEGGihsa:26581.
    hsa:26584.

    Polymorphism databases

    DMDMi74717113.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF133131 Genomic DNA. Translation: AAD33598.1 .
    AF133131 Genomic DNA. Translation: AAL02243.1 .
    RefSeqi NP_036278.1. NM_012146.1. [Q96PT3-2 ]
    NP_036281.2. NM_012149.2. [Q96PT3-1 ]
    UniGenei Hs.274469.

    3D structure databases

    ProteinModelPortali Q96PT3.
    SMRi Q96PT3. Positions 47-99, 120-177.
    ModBasei Search...
    MobiDBi Search...

    Polymorphism databases

    DMDMi 74717113.

    Proteomic databases

    PRIDEi Q96PT3.

    Protocols and materials databases

    DNASUi 26581.
    26584.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 26581.
    26584.
    KEGGi hsa:26581.
    hsa:26584.

    Organism-specific databases

    CTDi 26581.
    26584.
    HGNCi HGNC:3083. DUX5.
    MIMi 611444. gene.
    neXtProti NX_Q96PT3.
    PharmGKBi PA27535.
    PA27539.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG081466.
    PhylomeDBi Q96PT3.

    Miscellaneous databases

    NextBioi 48938.
    PROi Q96PT3.
    SOURCEi Search...

    Gene expression databases

    Genevestigatori Q96PT3.

    Family and domain databases

    Gene3Di 1.10.10.60. 2 hits.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 2 hits.
    [Graphical view ]
    PRINTSi PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 2 hits.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 2 hits.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements."
      Beckers M.-C., Gabrieels J., van der Maarel S., De Vriese A., Frants R.R., Collen D., Belayew A.
      Gene 264:51-57(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

    Entry informationi

    Entry nameiDUX5_HUMAN
    AccessioniPrimary (citable) accession number: Q96PT3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 17, 2006
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 72 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

    Miscellaneous

    DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes. May be functional despite lack of introns and a poly(A) addition signal.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3