Rubinstein-Taybi syndrome 1 (Homo sapiens)
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Description
Rubinstein-Taybi syndrome is a rare disease caused by a pathogenic version of the CREBBP and/or EP300 genes.
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Ontology Terms
Saving...Bibliography
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- Chen H, Lin RJ, Xie W, Wilpitz D, Evans RM; ''Regulation of hormone-induced histone hyperacetylation and gene activation via acetylation of an acetylase.''; Cell, 1999 PubMed Europe PMC Scholia
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- Curtis AM, Seo SB, Westgate EJ, Rudic RD, Smyth EM, Chakravarti D, FitzGerald GA, McNamara P; ''Histone acetyltransferase-dependent chromatin remodeling and the vascular clock.''; J Biol Chem, 2004 PubMed Europe PMC Scholia
- Hung HL, Kim AY, Hong W, Rakowski C, Blobel GA; ''Stimulation of NF-E2 DNA binding by CREB-binding protein (CBP)-mediated acetylation.''; J Biol Chem, 2001 PubMed Europe PMC Scholia
- Masumi A, Yamakawa Y, Fukazawa H, Ozato K, Komuro K; ''Interferon regulatory factor-2 regulates cell growth through its acetylation.''; J Biol Chem, 2003 PubMed Europe PMC Scholia
- Chen S, Seiler J, Santiago-Reichelt M, Felbel K, Grummt I, Voit R; ''Repression of RNA polymerase I upon stress is caused by inhibition of RNA-dependent deacetylation of PAF53 by SIRT7.''; Mol Cell, 2013 PubMed Europe PMC Scholia
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- Das C, Roy S, Namjoshi S, Malarkey CS, Jones DN, Kutateladze TG, Churchill ME, Tyler JK; ''Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation.''; Proc Natl Acad Sci U S A, 2014 PubMed Europe PMC Scholia
- ''''; , PubMed Europe PMC Scholia
- ''''; , PubMed Europe PMC Scholia
- Cazzalini O, Sommatis S, Tillhon M, Dutto I, Bachi A, Rapp A, Nardo T, Scovassi AI, Necchi D, Cardoso MC, Stivala LA, Prosperi E; ''CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis.''; Nucleic Acids Res, 2014 PubMed Europe PMC Scholia
History
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External references
DataNodes
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| Name | Type | Database reference | Comment |
|---|---|---|---|
| GeneProduct | |||
| ALX1 | GeneProduct | ENSG00000180318 (Ensembl)  | |
| BMAL1 | GeneProduct | ENSG00000133794 (Ensembl) | |
| CLOCK | GeneProduct | ENSG00000134852 (Ensembl) | |
| CREB1 | GeneProduct | ENSG00000118260 (Ensembl) | |
| CREBBP | GeneProduct | ENSG00000005339 (Ensembl) | |
| DDX21 | GeneProduct | ENSG00000165732 (Ensembl) | |
| FBL | GeneProduct | ENSG00000105202 (Ensembl) | |
| FOXO1 | GeneProduct | ENSG00000150907 (Ensembl) | |
| IRF2 | GeneProduct | ENSG00000168310 (Ensembl) | |
| MAFG | GeneProduct | ENSG00000197063 (Ensembl) | |
| NCOA3 | GeneProduct | ENSG00000124151 (Ensembl) | |
| NPAS2 | Protein | H7BZY5 (Uniprot-TrEMBL) | |
| PCNA | GeneProduct | ENSG00000132646 (Ensembl) | |
| POLR1E | GeneProduct | ENSG00000137054 (Ensembl) | |
| SMAD4 | GeneProduct | ENSG00000141646 (Ensembl) | |
| TGF-beta signaling pathway | Pathway | map04350 (KEGG Pathway) |
Annotated Interactions
No annotated interactions
