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Q6RFH8

- DUX4C_HUMAN

UniProt

Q6RFH8 - DUX4C_HUMAN

Protein

Double homeobox protein 4C

Gene

DUX4L9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 70 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    May be involved in transcriptional regulation By similarity. Down-regulates MYOD1 expression and may up-regulate MYF5 expression. May regulate microRNA (miRNA) transcription, upregulating the expression of some myogenic miRNAs, including MIR1-1, MIR133A2, MIR133B and MIR206. Impairs the differentiation of myoblasts and may be involved in muscle regeneration.By similarity3 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. protein binding Source: UniProtKB
    2. sequence-specific DNA binding transcription factor activity Source: InterPro
    3. transcription regulatory region sequence-specific DNA binding Source: UniProtKB

    GO - Biological processi

    1. cell proliferation Source: UniProtKB
    2. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    3. regulation of gene expression Source: UniProtKB
    4. 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 4C
    Alternative name(s):
    Double homeobox protein 4, centromeric
    Short name:
    DUX4c
    Double homeobox protein 4-like protein 9
    Gene namesi
    Name:DUX4L9
    Synonyms:DUX4C
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:33855. DUX4L9.

    Subcellular locationi

    Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Up-regulated in myoblasts of facioscapulohumeral muscular dystrophy (FSHD) patients (at protein level).1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 374374Double homeobox protein 4CPRO_0000405256Add
    BLAST

    Proteomic databases

    PaxDbiQ6RFH8.
    PRIDEiQ6RFH8.

    PTM databases

    PhosphoSiteiQ6RFH8.

    Expressioni

    Tissue specificityi

    Expressed in muscles, as well as in primary myoblasts and myotubes (at protein level).1 Publication

    Developmental stagei

    Up-regulated during myoblasts differentiation (at protein level).1 Publication

    Interactioni

    Subunit structurei

    May interact with MYF5; regulates MYF5 expression.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000410437.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6RFH8.
    SMRiQ6RFH8. Positions 20-77, 95-148.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi156 – 24590Ala-richAdd
    BLAST
    Compositional biasi191 – 338148Pro-richAdd
    BLAST

    Sequence similaritiesi

    Contains 2 homeobox DNA-binding domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox, Repeat

    Phylogenomic databases

    eggNOGiNOG323819.
    HOVERGENiHBG063255.
    PhylomeDBiQ6RFH8.

    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.

    Q6RFH8-1 [UniParc]FASTAAdd to Basket

    « Hide

    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 SAASTDASHP 350
    GASQPLQEPG RSSTVTSSLL YELL 374
    Length:374
    Mass (Da):39,442
    Last modified:July 5, 2004 - v1
    Checksum:iB7F4ED12BED46821
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY500824 Genomic DNA. Translation: AAS15569.1.
    AF146191 Genomic DNA. No translation available.

    Polymorphism databases

    DMDMi74710112.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY500824 Genomic DNA. Translation: AAS15569.1 .
    AF146191 Genomic DNA. No translation available.

    3D structure databases

    ProteinModelPortali Q6RFH8.
    SMRi Q6RFH8. Positions 20-77, 95-148.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000410437.

    PTM databases

    PhosphoSitei Q6RFH8.

    Polymorphism databases

    DMDMi 74710112.

    Proteomic databases

    PaxDbi Q6RFH8.
    PRIDEi Q6RFH8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Organism-specific databases

    GeneCardsi GC04M190943.
    H-InvDB HIX0020902.
    HGNCi HGNC:33855. DUX4L9.
    MIMi 615581. gene.
    neXtProti NX_Q6RFH8.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG323819.
    HOVERGENi HBG063255.
    PhylomeDBi Q6RFH8.

    Miscellaneous databases

    PROi Q6RFH8.
    SOURCEi Search...

    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. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, INTERACTION WITH MYF5, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation."
      Bosnakovski D., Lamb S., Simsek T., Xu Z., Belayew A., Perlingeiro R., Kyba M.
      Exp. Neurol. 214:87-96(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    4. Cited for: FUNCTION.

    Entry informationi

    Entry nameiDUX4C_HUMAN
    AccessioniPrimary (citable) accession number: Q6RFH8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 8, 2011
    Last sequence update: July 5, 2004
    Last modified: October 1, 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 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