Rubinstein-Taybi syndrome 1 (WP5367)

Homo sapiens

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Rubinstein-Taybi syndrome is a rare disease caused by a pathogenic version of the CREBBP and/or EP300 genes.

Authors

Ewoud , Kristina Hanspers , Eric Weitz , and Martina Summer-Kutmon

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

genetic disease Rubinstein-Taybi syndrome

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
FOXO1 GeneProduct ensembl:ENSG00000150907
PCNA GeneProduct ensembl:ENSG00000132646
DDX21 GeneProduct ensembl:ENSG00000165732
SMAD4 GeneProduct ensembl:ENSG00000141646
BMAL1 GeneProduct ensembl:ENSG00000133794
IRF2 GeneProduct ensembl:ENSG00000168310
CREBBP GeneProduct ensembl:ENSG00000005339
NCOA3 GeneProduct ensembl:ENSG00000124151
FBL GeneProduct ensembl:ENSG00000105202
CREB1 GeneProduct ensembl:ENSG00000118260
CLOCK GeneProduct ensembl:ENSG00000134852
POLR1E GeneProduct ensembl:ENSG00000137054
MAFG GeneProduct ensembl:ENSG00000197063
ALX1 GeneProduct ensembl:ENSG00000180318
PCNA GeneProduct ensembl:ENSG00000132646
FOXO1 GeneProduct ensembl:ENSG00000150907
POLR1E GeneProduct ensembl:ENSG00000137054
NCOA3 GeneProduct ensembl:ENSG00000124151
MAFG GeneProduct ensembl:ENSG00000197063
IRF2 GeneProduct ensembl:ENSG00000168310
FBL GeneProduct ensembl:ENSG00000105202
DDX21 GeneProduct ensembl:ENSG00000165732
BMAL1 GeneProduct ensembl:ENSG00000133794
NPAS2 Protein uniprot:H7BZY5

References

  1. Acetylation and modulation of erythroid Krüppel-like factor (EKLF) activity by interaction with histone acetyltransferases. Zhang W, Bieker JJ. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9855–60. PubMed Europe PMC Scholia
  2. Regulation of hormone-induced histone hyperacetylation and gene activation via acetylation of an acetylase. Chen H, Lin RJ, Xie W, Wilpitz D, Evans RM. Cell. 1999 Sep 3;98(5):675–86. PubMed Europe PMC Scholia
  3. Stimulation of NF-E2 DNA binding by CREB-binding protein (CBP)-mediated acetylation. Hung HL, Kim AY, Hong W, Rakowski C, Blobel GA. J Biol Chem. 2001 Apr 6;276(14):10715–21. PubMed Europe PMC Scholia
  4. Interferon regulatory factor-2 regulates cell growth through its acetylation. Masumi A, Yamakawa Y, Fukazawa H, Ozato K, Komuro K. J Biol Chem. 2003 Jul 11;278(28):25401–7. PubMed Europe PMC Scholia
  5. P300/CBP acts as a coactivator to cartilage homeoprotein-1 (Cart1), paired-like homeoprotein, through acetylation of the conserved lysine residue adjacent to the homeodomain. Iioka T, Furukawa K, Yamaguchi A, Shindo H, Yamashita S, Tsukazaki T. J Bone Miner Res. 2003 Aug;18(8):1419–29. PubMed Europe PMC Scholia
  6. Histone acetyltransferase-dependent chromatin remodeling and the vascular clock. Curtis AM, Seo S beom, Westgate EJ, Rudic RD, Smyth EM, Chakravarti D, et al. J Biol Chem. 2004 Feb 20;279(8):7091–7. PubMed Europe PMC Scholia
  7. Repression of RNA polymerase I upon stress is caused by inhibition of RNA-dependent deacetylation of PAF53 by SIRT7. Chen S, Seiler J, Santiago-Reichelt M, Felbel K, Grummt I, Voit R. Mol Cell. 2013 Nov 7;52(3):303–13. PubMed Europe PMC Scholia
  8. Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation. Das C, Roy S, Namjoshi S, Malarkey CS, Jones DNM, Kutateladze TG, et al. Proc Natl Acad Sci U S A. 2014 Mar 25;111(12):E1072-81. PubMed Europe PMC Scholia
  9. CBP and p300 acetylate PCNA to link its degradation with nucleotide excision repair synthesis. Cazzalini O, Sommatis S, Tillhon M, Dutto I, Bachi A, Rapp A, et al. Nucleic Acids Res. 2014 Jul;42(13):8433–48. PubMed Europe PMC Scholia
  10. SIRT7 and the DEAD-box helicase DDX21 cooperate to resolve genomic R loops and safeguard genome stability. Song C, Hotz-Wagenblatt A, Voit R, Grummt I. Genes Dev. 2017 Jul 1;31(13):1370–81. PubMed Europe PMC Scholia
  11. SIRT7-Dependent Deacetylation of Fibrillarin Controls Histone H2A Methylation and rRNA Synthesis during the Cell Cycle. Iyer-Bierhoff A, Krogh N, Tessarz P, Ruppert T, Nielsen H, Grummt I. Cell Rep. 2018 Dec 11;25(11):2946-2954.e5. PubMed Europe PMC Scholia
  12. Deubiquitinase OTUD3 regulates metabolism homeostasis in response to nutritional stresses. Zhou N, Qi H, Liu J, Zhang G, Liu J, Liu N, et al. Cell Metab. 2022 Jul 5;34(7):1023-1041.e8. PubMed Europe PMC Scholia