DUX4

Protein identityUniProt · HPA

UniProt accession

Q9UBX2

Gene

DUX4

Ensembl

ENSG00000260596

Chromosome

4

Canonical length

424 aa

Protein class

Disease related genes, Potential drug targets, Predicted intracellular proteins, Transcription factors, Transporters

Subcellular location

Nucleoplasm,Nucleoli,Golgi apparatus,Cytosol

OverviewNCBI Gene

This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Canonical amino-acid sequenceUniProt

424 residues, UniProt reviewed canonical sequence.

>Q9UBX2|DUX4
     1  MALPTPSDST LPAEARGRGR RRRLVWTPSQ SEALRACFER NPYPGIATRE RLAQAIGIPE
    61  PRVQIWFQNE RSRQLRQHRR ESRPWPGRRG PPEGRRKRTA VTGSQTALLL RAFEKDRFPG
   121  IAAREELARE TGLPESRIQI WFQNRRARHP GQGGRAPAQA GGLCSAAPGG GHPAPSWVAF
   181  AHTGAWGTGL PAPHVPCAPG ALPQGAFVSQ AARAAPALQP SQAAPAEGIS QPAPARGDFA
   241  YAAPAPPDGA LSHPQAPRWP PHPGKSREDR DPQRDGLPGP CAVAQPGPAQ AGPQGQGVLA
   301  PPTSQGSPWW GWGRGPQVAG AAWEPQAGAA PPPQPAPPDA SASARQGQMQ GIPAPSQALQ
   361  EPAPWSALPC GLLLDELLAS PEFLQQAQPL LETEAPGELE ASEEAASLEA PLSEEEYRAL
   421  LEEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DUX4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.62

Highest tissue expression

0.8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DUX4.

Disease | AllUniProt

Conditions DUX4 is implicated in, by any mechanism.

• Facioscapulohumeral muscular dystrophy 1 (FSHD1) MIM:158900

OntologyGO

Biological processes

• apoptotic process
• negative regulation of cell population proliferation
• negative regulation of G0 to G1 transition
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding

Cellular components

• cytoplasm
• cytosol
• Golgi apparatus
• nuclear membrane
• nucleolus
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Helix-turn-helix motif
• Homeodomain
• Homedomain-like superfamily
• Homeobox domain-containing regulator
• Homeodomain

KeywordsUniProt

• Activator
• Cytoplasm
• Developmental protein
• DNA-binding
• Homeobox
• Nucleus
• Repeat
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of DUX4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CREBBP
• EP300
• C1QBP
• DES
• IPO13