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HUMAN:DUX4
Contents
| 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 |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
|
enables |
GO:1990837 |
sequence-specific double-stranded DNA binding |
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 |
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 |
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 |
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 |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
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 |
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 |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0008285 |
negative regulation of cell population proliferation |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006915 |
apoptotic process |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0031965 |
nuclear membrane |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005654 |
nucleoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005829 |
cytosol |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005794 |
Golgi apparatus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005730 |
nucleolus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003677 |
DNA binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007275 |
multicellular organism development |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
|
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003677 |
DNA binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Dong, X et al. (2018) DUX4-DNA structure reveals new insight into DUX4-Responsive-Element. Leukemia PubMed GONUTS page
- ↑ Li, Y et al. (2018) Structural basis for multiple gene regulation by human DUX4. Biochem. Biophys. Res. Commun. 505 1161-1167 PubMed GONUTS page
- ↑ 3.0 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
- ↑ 4.0 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
- ↑ 5.0 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
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