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Q9UBX2

- DUX4_HUMAN

UniProt

Q9UBX2 - DUX4_HUMAN

Protein

Double homeobox protein 4

Gene

DUX4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 2 (01 Oct 2001)
      Previous versions | rss
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    Functioni

    Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.2 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi19 – 7860Homeobox 1PROSITE-ProRule annotationAdd
    BLAST
    DNA bindingi94 – 15360Homeobox 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: UniProtKB

    GO - Biological processi

    1. apoptotic process Source: UniProtKB
    2. negative regulation of cell proliferation Source: UniProtKB
    3. negative regulation of G0 to G1 transition Source: UniProtKB
    4. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    5. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Double homeobox protein 4
    Alternative name(s):
    Double homeobox protein 10
    Double homeobox protein 4/10
    Gene namesi
    Name:DUX4
    Synonyms:DUX10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:3082. DUX4.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation
    Note: Actively transported through the nuclear pore complex (NPC).

    GO - Cellular componenti

    1. nuclear membrane Source: UniProtKB
    2. nucleoplasm Source: UniProtKB
    3. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.2 Publications
    Note: The gene represented in this entry is involved in disease pathogenesis. The disease is caused by deletion of an integral number of units of a 3.3-kb tandem repeats, termed D4Z4 macrosatellite, located on chromosome 4q35. In unaffected subjects, the D4Z4 array consists of 11-150 repeats, while in FSHD1 patients, the array is reduced to 1-10 repeats (PubMed:19320656). DUX4 is located in D4Z4 macrosatellite which is epigenetically repressed in somatic tissues. D4Z4 chromatin relaxation in FSHD1 results in inefficient epigenetic repression of DUX4 and a variegated pattern of DUX4 protein expression in a subset of skeletal muscle nuclei. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.1 Publication

    Organism-specific databases

    MIMi158900. phenotype.
    Orphaneti269. Facioscapulohumeral dystrophy.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 424424Double homeobox protein 4PRO_0000252413Add
    BLAST

    Proteomic databases

    PaxDbiQ9UBX2.
    PRIDEiQ9UBX2.

    PTM databases

    PhosphoSiteiQ9UBX2.

    Expressioni

    Tissue specificityi

    Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells.1 Publication

    Gene expression databases

    CleanExiHS_DUX4.
    GenevestigatoriQ9UBX2.

    Interactioni

    Subunit structurei

    May exist as a monomer or a dimer.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000414381.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBX2.
    SMRiQ9UBX2. Positions 20-77, 95-148.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi16 – 9883Arg-richAdd
    BLAST
    Compositional biasi156 – 24590Ala-richAdd
    BLAST

    Domaini

    Both homeobox domains confer nuclear targeting.

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox, Repeat

    Phylogenomic databases

    eggNOGiNOG323819.
    HOVERGENiHBG063255.
    InParanoidiQ9UBX2.
    PhylomeDBiQ9UBX2.

    Family and domain databases

    Gene3Di1.10.10.60. 2 hits.
    InterProiIPR001356. 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.
    PROSITEiPS50071. HOMEOBOX_2. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9UBX2-1 [UniParc]FASTAAdd to Basket

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    MALPTPSDST LPAEARGRGR RRRLVWTPSQ SEALRACFER NPYPGIATRE    50
    RLAQAIGIPE PRVQIWFQNE RSRQLRQHRR ESRPWPGRRG PPEGRRKRTA 100
    VTGSQTALLL RAFEKDRFPG IAAREELARE TGLPESRIQI WFQNRRARHP 150
    GQGGRAPAQA GGLCSAAPGG GHPAPSWVAF AHTGAWGTGL PAPHVPCAPG 200
    ALPQGAFVSQ AARAAPALQP SQAAPAEGIS QPAPARGDFA YAAPAPPDGA 250
    LSHPQAPRWP PHPGKSREDR DPQRDGLPGP CAVAQPGPAQ AGPQGQGVLA 300
    PPTSQGSPWW GWGRGPQVAG AAWEPQAGAA PPPQPAPPDA SASARQGQMQ 350
    GIPAPSQALQ EPAPWSALPC GLLLDELLAS PEFLQQAQPL LETEAPGELE 400
    ASEEAASLEA PLSEEEYRAL LEEL 424
    Length:424
    Mass (Da):44,940
    Last modified:October 1, 2001 - v2
    Checksum:iC51E9EE25C6661B8
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF117653 Genomic DNA. Translation: AAD54067.2.
    AF117653 Genomic DNA. Translation: AAD54068.2.
    AY044051 Genomic DNA. Translation: AAK91509.1.

    Genome annotation databases

    KEGGihsa:100653046.

    Polymorphism databases

    DMDMi74720085.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF117653 Genomic DNA. Translation: AAD54067.2 .
    AF117653 Genomic DNA. Translation: AAD54068.2 .
    AY044051 Genomic DNA. Translation: AAK91509.1 .

    3D structure databases

    ProteinModelPortali Q9UBX2.
    SMRi Q9UBX2. Positions 20-77, 95-148.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000414381.

    PTM databases

    PhosphoSitei Q9UBX2.

    Polymorphism databases

    DMDMi 74720085.

    Proteomic databases

    PaxDbi Q9UBX2.
    PRIDEi Q9UBX2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    KEGGi hsa:100653046.

    Organism-specific databases

    GeneCardsi GC04P191005.
    GeneReviewsi DUX4.
    HGNCi HGNC:3082. DUX4.
    MIMi 158900. phenotype.
    606009. gene.
    neXtProti NX_Q9UBX2.
    Orphaneti 269. Facioscapulohumeral dystrophy.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG323819.
    HOVERGENi HBG063255.
    InParanoidi Q9UBX2.
    PhylomeDBi Q9UBX2.

    Miscellaneous databases

    PROi Q9UBX2.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_DUX4.
    Genevestigatori Q9UBX2.

    Family and domain databases

    Gene3Di 1.10.10.60. 2 hits.
    InterProi 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 PS50071. HOMEOBOX_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element."
      Gabrieels J., Beckers M.-C., Ding H., De Vriese A., Plaisance S., van der Maarel S.M., Padberg G.W., Frants R.R., Hewitt J.E., Collen D., Belayew A.
      Gene 236:25-32(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN FSHD1.
    2. "A subtelomeric exchange between chromosomes 4q35 and 10q26 observed in a patient with FSHD maintains a double homeobox (DUX) gene within the 3.3 kb repeats of the D4Z4 locus."
      Leclercq I., Matteotti C., Deneubourg G., Leo O., Van der Maarel S.M., Frants R.R., Padberg G.W., Coppee F., Belayew A.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Intracellular trafficking and dynamics of double homeodomain proteins."
      Oestlund C., Garcia-Carrasquillo R.M., Belayew A., Worman H.J.
      Biochemistry 44:2378-2384(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    4. "Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample."
      Mostacciuolo M.L., Pastorello E., Vazza G., Miorin M., Angelini C., Tomelleri G., Galluzzi G., Trevisan C.P.
      Clin. Genet. 75:550-555(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN FSHD1.
    5. Cited for: FUNCTION.

    Entry informationi

    Entry nameiDUX4_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBX2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 17, 2006
    Last sequence update: October 1, 2001
    Last modified: October 1, 2014
    This is version 103 of the entry and version 2 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.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3