Rubinstein-Taybi syndrome 1 (Homo sapiens)

From WikiPathways

Jump to: navigation, search
1-3, 5-8, 10...4312897Association of RNA polymerase Iwith the rDNA promotor regionMethylation of Gln-105 on H2AAcetylates histonesDDX21 helicase activityCoactivatorEnhances transcriptional activity towardscAMP responsive genesRemoval of chromatin-bound PCNAand degradation during NERNCOA3SMAD4FOXO1TGF-beta signaling pathwayNPAS2BMAL1PCNAIRF2CREBBPMAFGALX1CREB1POLR1ECLOCKFBLDDX21PTranscriptional coactivaterPCNAAFOXO1APOLR1EANCOA3AMAFGAIRF2AFBLADDX21ABMAL1Transcriptional coactivaterCatalysisBindingAcetylatedLEGENDInhibitionPhosphorylatedConversionStimulationAP


Description

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

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. 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
  2. ''''; , PubMed Europe PMC Scholia
  3. ''''; , PubMed Europe PMC Scholia
  4. 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
  5. 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
  6. 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
  7. 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
  8. ''''; , PubMed Europe PMC Scholia
  9. 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
  10. ''''; , PubMed Europe PMC Scholia
  11. ''''; , PubMed Europe PMC Scholia
  12. 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

View all...
CompareRevisionActionTimeUserComment
129307view13:48, 26 March 2024MkutmonOntology Term : 'disease pathway' added !
128786view00:11, 22 February 2024EweitzModified description
128785view00:07, 22 February 2024EweitzEconomize layout
128784view00:05, 22 February 2024EweitzEconomize layout
128783view00:02, 22 February 2024EweitzRobustify state labels
128782view23:59, 21 February 2024EweitzRefine legend, standardize case, economize layout
127453view18:35, 3 October 2023KhanspersUpdated legend from interactions to graphical lines
126905view19:36, 30 June 2023KhanspersOntology Term : 'genetic disease' added !
126904view19:34, 30 June 2023KhanspersOntology Term : 'Rubinstein-Taybi syndrome' added !
126851view09:45, 27 June 2023Ewoud
126575view14:35, 4 June 2023EwoudFiller
126574view14:32, 4 June 2023EwoudNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
GeneProduct
ALX1GeneProductENSG00000180318 (Ensembl)
BMAL1GeneProductENSG00000133794 (Ensembl)
CLOCKGeneProductENSG00000134852 (Ensembl)
CREB1GeneProductENSG00000118260 (Ensembl)
CREBBPGeneProductENSG00000005339 (Ensembl)
DDX21GeneProductENSG00000165732 (Ensembl)
FBLGeneProductENSG00000105202 (Ensembl)
FOXO1GeneProductENSG00000150907 (Ensembl)
IRF2GeneProductENSG00000168310 (Ensembl)
MAFGGeneProductENSG00000197063 (Ensembl)
NCOA3GeneProductENSG00000124151 (Ensembl)
NPAS2ProteinH7BZY5 (Uniprot-TrEMBL)
PCNAGeneProductENSG00000132646 (Ensembl)
POLR1EGeneProductENSG00000137054 (Ensembl)
SMAD4GeneProductENSG00000141646 (Ensembl)
TGF-beta signaling pathwayPathwaymap04350 (KEGG Pathway)

Annotated Interactions

No annotated interactions

Personal tools