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HUMAN:DUX4

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) DUX4 (ECO:0000312 with HGNC:HGNC:50800) (synonyms: DUX10)
Protein Name(s) Double homeobox protein 4 (ECO:0000312 with HGNC:HGNC:50800)

Double homeobox protein 10 (ECO:0000312 with EMBL:AAK91509.1)

External Links
UniProt Q9UBX2
EMBL AF117653
AF117653
AY044051
AC215524
RefSeq NP_001280727.1
UniGene Hs.728749
ProteinModelPortal Q9UBX2
SMR Q9UBX2
STRING 9606.ENSP00000414381
PhosphoSite Q9UBX2
DMDM 74720085
PaxDb Q9UBX2
PRIDE Q9UBX2
Ensembl ENST00000565211
ENST00000569241
ENST00000616166
GeneID 100288687
CTD 100288687
GeneCards GC04P191005
GeneReviews DUX4
HGNC HGNC:50800
MIM 158900
606009
neXtProt NX_Q9UBX2
Orphanet 269
eggNOG NOG323819
GeneTree ENSGT00610000085975
HOVERGEN HBG063255
InParanoid Q9UBX2
PhylomeDB Q9UBX2
PRO PR:Q9UBX2
Proteomes UP000005640
CleanEx HS_DUX4
ExpressionAtlas Q9UBX2
Genevestigator Q9UBX2
GO GO:0031965
GO:0005654
GO:0005634
GO:0000976
GO:0006915
GO:0008285
GO:0070317
GO:0045944
GO:0006351
Gene3D 1.10.10.60
InterPro IPR001356
IPR009057
IPR000047
Pfam PF00046
PRINTS PR00031
SMART SM00389
SUPFAM SSF46689
PROSITE PS50071

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:30315230[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

PMID:30315230[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:1990837

sequence-specific double-stranded DNA binding

PMID:30322619[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

PMID:17984056[3]

ECO:0000314

direct assay evidence used in manual assertion

F

  • has_regulation_target:(NCBI_Gene:18740)
  • occurs_at:(SO:0001952)

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:17984056[3]

ECO:0000314

direct assay evidence used in manual assertion

P

has_regulation_target:(NCBI_Gene:18740)

Seeded From UniProt

complete

enables

GO:0000978

RNA polymerase II proximal promoter sequence-specific DNA binding

PMID:17984056[3]

ECO:0000314

direct assay evidence used in manual assertion

F

has_regulation_target:(NCBI_Gene:18740)

Seeded From UniProt

complete

enables

GO:0000976

transcription regulatory region sequence-specific DNA binding

PMID:17984056[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:17984056[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:17984056[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:24589735[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0070317

negative regulation of G0 to G1 transition

PMID:24589735[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0008285

negative regulation of cell population proliferation

PMID:24589735[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006915

apoptotic process

PMID:17588759[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0031965

nuclear membrane

PMID:17588759[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

PMID:17588759[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005794

Golgi apparatus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR000047
InterPro:IPR001356
InterPro:IPR009057

F

Seeded From UniProt

complete

involved_in

GO:0007275

multicellular organism development

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0217

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037
GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238
UniProtKB-KW:KW-0371

F

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Dong, X et al. (2018) DUX4-DNA structure reveals new insight into DUX4-Responsive-Element. Leukemia PubMed GONUTS page
  2. Li, Y et al. (2018) Structural basis for multiple gene regulation by human DUX4. Biochem. Biophys. Res. Commun. 505 1161-1167 PubMed GONUTS page
  3. 3.0 3.1 3.2 3.3 3.4 3.5 Dixit, M et al. (2007) DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc. Natl. Acad. Sci. U.S.A. 104 18157-62 PubMed GONUTS page
  4. 4.0 4.1 4.2 Xu, H et al. (2014) Dux4 induces cell cycle arrest at G1 phase through upregulation of p21 expression. Biochem. Biophys. Res. Commun. 446 235-40 PubMed GONUTS page
  5. 5.0 5.1 5.2 Kowaljow, V et al. (2007) The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Neuromuscul. Disord. 17 611-23 PubMed GONUTS page