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Protein

Double homeobox protein 4

Gene

DUX4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi19 – 78Homeobox 1PROSITE-ProRule annotationAdd BLAST60
DNA bindingi94 – 153Homeobox 2PROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ9UBX2

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Double homeobox protein 4Imported
Alternative name(s):
Double homeobox protein 10Imported
Gene namesi
Name:DUX4Imported
Synonyms:DUX10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000260596.5
HGNCiHGNC:50800 DUX4
MIMi606009 gene
neXtProtiNX_Q9UBX2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Facioscapulohumeral muscular dystrophy 1 (FSHD1)2 Publications
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
Disease descriptionA 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.
See also OMIM:158900

Organism-specific databases

DisGeNETi100288687
107987484
107987485
107987486
107987487
107987488
107987489
107987490
107987491
GeneReviewsiDUX4
MalaCardsiDUX4
MIMi158900 phenotype
OpenTargetsiENSG00000260596
Orphaneti269 Facioscapulohumeral dystrophy

Polymorphism and mutation databases

DMDMi74720085

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002524131 – 424Double homeobox protein 4Add BLAST424

Proteomic databases

PRIDEiQ9UBX2
ProteomicsDBi84090

PTM databases

iPTMnetiQ9UBX2
PhosphoSitePlusiQ9UBX2

Expressioni

Tissue specificityi

Does not seem to be expressed in normal muscle, but is detected in muscle of individuals with FSHD, and also in testis (at protein level) (PubMed:21060811). Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells.2 Publications

Gene expression databases

BgeeiENSG00000260596 Expressed in 44 organ(s), highest expression level in adenohypophysis
CleanExiHS_DUX4
ExpressionAtlasiQ9UBX2 baseline and differential
GenevisibleiQ9UBX2 HS

Organism-specific databases

HPAiHPA058451

Interactioni

Subunit structurei

May exist as a monomer or a dimer.

Binary interactionsi

Protein-protein interaction databases

BioGridi940343, 2 interactors
IntActiQ9UBX2, 284 interactors

Structurei

Secondary structure

1424
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UBX2
SMRiQ9UBX2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi16 – 98Arg-richAdd BLAST83
Compositional biasi156 – 245Ala-richAdd BLAST90

Domaini

Both homeobox domains confer nuclear targeting.

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox, Repeat

Phylogenomic databases

eggNOGiKOG0849 Eukaryota
ENOG410XS01 LUCA
GeneTreeiENSGT00610000085975
HOVERGENiHBG063255
InParanoidiQ9UBX2
OMAiARQGQMQ
OrthoDBiEOG091G0ISS
PhylomeDBiQ9UBX2

Family and domain databases

CDDicd00086 homeodomain, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 2 hits
PRINTSiPR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 2 hits
SUPFAMiSSF46689 SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9UBX2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MALPTPSDST LPAEARGRGR RRRLVWTPSQ SEALRACFER NPYPGIATRE
60 70 80 90 100
RLAQAIGIPE PRVQIWFQNE RSRQLRQHRR ESRPWPGRRG PPEGRRKRTA
110 120 130 140 150
VTGSQTALLL RAFEKDRFPG IAAREELARE TGLPESRIQI WFQNRRARHP
160 170 180 190 200
GQGGRAPAQA GGLCSAAPGG GHPAPSWVAF AHTGAWGTGL PAPHVPCAPG
210 220 230 240 250
ALPQGAFVSQ AARAAPALQP SQAAPAEGIS QPAPARGDFA YAAPAPPDGA
260 270 280 290 300
LSHPQAPRWP PHPGKSREDR DPQRDGLPGP CAVAQPGPAQ AGPQGQGVLA
310 320 330 340 350
PPTSQGSPWW GWGRGPQVAG AAWEPQAGAA PPPQPAPPDA SASARQGQMQ
360 370 380 390 400
GIPAPSQALQ EPAPWSALPC GLLLDELLAS PEFLQQAQPL LETEAPGELE
410 420
ASEEAASLEA PLSEEEYRAL LEEL
Length:424
Mass (Da):44,940
Last modified:October 1, 2001 - v2
Checksum:iC51E9EE25C6661B8
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E2JJS1E2JJS1_HUMAN
Double homeobox protein 4
DUX4
160Annotation score:

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117653 Genomic DNA Translation: AAD54067.2
AF117653 Genomic DNA Translation: AAD54068.2
AY044051 Genomic DNA Translation: AAK91509.1
AC215524 Genomic DNA No translation available.
CCDSiCCDS77990.1
RefSeqiNP_001280727.1, NM_001293798.2
NP_001292997.1, NM_001306068.2
XP_016885822.1, XM_017030333.1
XP_016885823.1, XM_017030334.1
XP_016885824.1, XM_017030335.1
XP_016885825.1, XM_017030336.1
XP_016885826.1, XM_017030337.1
XP_016885827.1, XM_017030338.1
XP_016885828.1, XM_017030339.1
XP_016885829.1, XM_017030340.1
UniGeneiHs.728749

Genome annotation databases

EnsembliENST00000565211; ENSP00000458065; ENSG00000260596
ENST00000569241; ENSP00000456539; ENSG00000260596
ENST00000616166; ENSP00000483555; ENSG00000260596
GeneIDi100288687
107987484
107987485
107987486
107987487
KEGGihsa:100288687
hsa:107987484
hsa:107987485
hsa:107987486
hsa:107987487
hsa:107987488
hsa:107987489
hsa:107987490
hsa:107987491
UCSCiuc031tgs.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117653 Genomic DNA Translation: AAD54067.2
AF117653 Genomic DNA Translation: AAD54068.2
AY044051 Genomic DNA Translation: AAK91509.1
AC215524 Genomic DNA No translation available.
CCDSiCCDS77990.1
RefSeqiNP_001280727.1, NM_001293798.2
NP_001292997.1, NM_001306068.2
XP_016885822.1, XM_017030333.1
XP_016885823.1, XM_017030334.1
XP_016885824.1, XM_017030335.1
XP_016885825.1, XM_017030336.1
XP_016885826.1, XM_017030337.1
XP_016885827.1, XM_017030338.1
XP_016885828.1, XM_017030339.1
XP_016885829.1, XM_017030340.1
UniGeneiHs.728749

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5Z2SX-ray1.50A100-150[»]
5Z2TX-ray2.62C/D94-153[»]
6DFYX-ray2.62C/D94-153[»]
ProteinModelPortaliQ9UBX2
SMRiQ9UBX2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi940343, 2 interactors
IntActiQ9UBX2, 284 interactors

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

PTM databases

iPTMnetiQ9UBX2
PhosphoSitePlusiQ9UBX2

Polymorphism and mutation databases

DMDMi74720085

Proteomic databases

PRIDEiQ9UBX2
ProteomicsDBi84090

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000565211; ENSP00000458065; ENSG00000260596
ENST00000569241; ENSP00000456539; ENSG00000260596
ENST00000616166; ENSP00000483555; ENSG00000260596
GeneIDi100288687
107987484
107987485
107987486
107987487
KEGGihsa:100288687
hsa:107987484
hsa:107987485
hsa:107987486
hsa:107987487
hsa:107987488
hsa:107987489
hsa:107987490
hsa:107987491
UCSCiuc031tgs.2 human

Organism-specific databases

CTDi100288687
DisGeNETi100288687
107987484
107987485
107987486
107987487
107987488
107987489
107987490
107987491
EuPathDBiHostDB:ENSG00000260596.5
GeneCardsiDUX4
GeneReviewsiDUX4
HGNCiHGNC:50800 DUX4
HPAiHPA058451
MalaCardsiDUX4
MIMi158900 phenotype
606009 gene
neXtProtiNX_Q9UBX2
OpenTargetsiENSG00000260596
Orphaneti269 Facioscapulohumeral dystrophy
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0849 Eukaryota
ENOG410XS01 LUCA
GeneTreeiENSGT00610000085975
HOVERGENiHBG063255
InParanoidiQ9UBX2
OMAiARQGQMQ
OrthoDBiEOG091G0ISS
PhylomeDBiQ9UBX2

Enzyme and pathway databases

SIGNORiQ9UBX2

Miscellaneous databases

GenomeRNAii100288687
PROiPR:Q9UBX2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000260596 Expressed in 44 organ(s), highest expression level in adenohypophysis
CleanExiHS_DUX4
ExpressionAtlasiQ9UBX2 baseline and differential
GenevisibleiQ9UBX2 HS

Family and domain databases

CDDicd00086 homeodomain, 2 hits
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR000047 HTH_motif
PfamiView protein in Pfam
PF00046 Homeobox, 2 hits
PRINTSiPR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 2 hits
SUPFAMiSSF46689 SSF46689, 2 hits
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiDUX4_HUMAN
AccessioniPrimary (citable) accession number: Q9UBX2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 1, 2001
Last modified: November 7, 2018
This is version 139 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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