Rubinstein-Taybi syndrome 1 (Homo sapiens)

From WikiPathways

Jump to: navigation, search
ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none CoactivatorAssociation of RNA polymerase Iwith the rDNA promotor regionRemoval of chromatin-bound PCNAand degradation during NERMethylation of Gln-105 on H2AEnhances transcriptional activity towardscAMP responsive genesAcetylates histonesDDX21 helicase activitySMAD4CREBBPTGF-beta signaling pathwayALX1PCREB1NPAS2BMAL1CLOCKBMAL1FOXO1PCNADDX21IRF2NCOA3FBLPOLR1EMAFGTranscriptional coactivaterAPCNAAFOXO1APOLR1EANCOA3AMAFGAIRF2AFBLADDX21Transcriptional coactivaterCatalysisBindingAcetylatedLEGENDInhibitionPhosphorylatedConversionStimulationAPName: Rubinstein-Taybi syndrome 1Organism: Homo sapiens


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

Image:Curated.pngApproved version

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
129307
Approved
view13:48, 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...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
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

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5367"
Personal tools