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Q9UBX2

- DUX4_HUMAN

UniProt

Q9UBX2 - DUX4_HUMAN

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Protein
Double homeobox protein 4
Gene
DUX4, DUX10
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi19 – 7860Homeobox 1
Add
BLAST
DNA bindingi94 – 15360Homeobox 2
Add
BLAST

GO - Molecular functioni

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

GO - Biological processi

  1. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

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
Note: Actively transported through the nuclear pore complex (NPC).1 Publication

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

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.
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 (1 Publication). 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.2 Publications

Organism-specific databases

MIMi158900. phenotype.
Orphaneti269. Facioscapulohumeral dystrophy.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 424424Double homeobox protein 4
PRO_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.

Family & Domainsi

Compositional bias

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

Domaini

Both homeobox domains confer nuclear targeting.

Sequence similaritiesi

Belongs to the paired homeobox family.

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

« 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 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

EnsembliENST00000565211; ENSP00000458065; ENSG00000260596.
ENST00000569241; ENSP00000456539; ENSG00000260596.
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

Ensembli ENST00000565211 ; ENSP00000458065 ; ENSG00000260596 .
ENST00000569241 ; ENSP00000456539 ; ENSG00000260596 .
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: September 3, 2014
This is version 102 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

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