Transcription activation (RNA-polymerase I and KAT2A/B) and inhibition (NuRD complex) (WP5565)

Homo sapiens

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This pathway describes the transcription activation (RNA-polymerase I and KAT2A/B) and inhibition (NuRD complex)in general. These processes are involved in the Tessadori-Bicknell-van Haaften syndrome 3 (TEBINVAD) - for an overview of this syndrome see WP5575.

For a description of pathway objects, see the WikiPathways Legend.

Authors

Jorinde Lohmann , Friederike Ehrhart , and Egon Willighagen

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

transcription pathway disease pathway

Disease Ontology

epilepsy

Participants
Query Drugst.One

Label Type Compact URI Comment
DNA Metabolite chebi:4705
Cycloheximide Metabolite pubchem.compound:6197
SIRT7 GeneProduct ensembl:ENSG00000187531
EP400 GeneProduct ensembl:ENSG00000183495
PWWP2B GeneProduct ensembl:ENSG00000171813
HDAC2 GeneProduct ensembl:ENSG00000196591
MTA2 GeneProduct ensembl:ENSG00000149480
POLR1A GeneProduct ensembl:ENSG00000068654
CDK2AP1 GeneProduct ensembl:ENSG00000111328
CHD3 GeneProduct ensembl:ENSG00000170004
MBD3 GeneProduct ensembl:ENSG00000071655
HDAC1 GeneProduct ensembl:ENSG00000116478
RRN3 GeneProduct ensembl:ENSG00000085721
PWWP2A GeneProduct ensembl:ENSG00000170234
MTA1 GeneProduct ensembl:ENSG00000182979
RBBP4 GeneProduct ensembl:ENSG00000162521
CHD4 GeneProduct ensembl:ENSG00000111642
H2BC5 GeneProduct ensembl:ENSG00000158373
H4C1 GeneProduct ensembl:ENSG00000278637
H2BC1 GeneProduct ensembl:ENSG00000146047
TAF12 GeneProduct ensembl:ENSG00000120656
H2AC14 GeneProduct ensembl:ENSG00000276368
EP300 GeneProduct ensembl:ENSG00000100393
HAT1 GeneProduct ensembl:ENSG00000128708
H2BC11 GeneProduct ensembl:ENSG00000124635
H4C13 GeneProduct ensembl:ENSG00000275126
H4C4 GeneProduct ensembl:ENSG00000277157
CREBBP GeneProduct ensembl:ENSG00000005339
H2AJ GeneProduct ensembl:ENSG00000246705
H2AC18 GeneProduct ensembl:ENSG00000288825
TLK2 GeneProduct ensembl:ENSG00000146872
H4C12 GeneProduct ensembl:ENSG00000273542
H2BC4 GeneProduct ensembl:ENSG00000180596
H4C3 GeneProduct ensembl:ENSG00000197061
H4C9 GeneProduct ensembl:ENSG00000276180
KAT2A GeneProduct ensembl:ENSG00000108773
MAPK3 GeneProduct ensembl:ENSG00000102882
H4C16 GeneProduct ensembl:ENSG00000197837
H4C15 GeneProduct ensembl:ENSG00000270276
H2AZ2 GeneProduct ensembl:ENSG00000105968
H2AC20 GeneProduct ensembl:ENSG00000184260
UBTF GeneProduct ensembl:ENSG00000108312
H2AB1 GeneProduct ensembl:ENSG00000274183
TAF1A GeneProduct ensembl:ENSG00000143498
H2AZ1 GeneProduct ensembl:ENSG00000164032
H2BC3 GeneProduct ensembl:ENSG00000276410
H3C12 GeneProduct ensembl:ENSG00000197153
TAF1B GeneProduct hgnc.symbol:TAF1B
H3C13 GeneProduct ensembl:ENSG00000183598
H2BC17 GeneProduct ensembl:ENSG00000274641
TBP GeneProduct ensembl:ENSG00000112592
KAT2B GeneProduct ensembl:ENSG00000114166
H4C5 GeneProduct ensembl:ENSG00000276966
H2BC12L GeneProduct ensembl:ENSG00000234289
H2BC9 GeneProduct ensembl:ENSG00000275713
H3-3B GeneProduct ensembl:ENSG00000132475
TAF1C GeneProduct ensembl:ENSG00000103168
H2AC6 GeneProduct ensembl:ENSG00000180573
H2AC7 GeneProduct ensembl:ENSG00000196866
H4C14 GeneProduct ensembl:ENSG00000270882
H2BC26 GeneProduct ensembl:ENSG00000196890
H2BC12 GeneProduct ensembl:ENSG00000197903
H2BC15 GeneProduct ensembl:ENSG00000233822
TAF1D GeneProduct ensembl:ENSG00000166012
H2BC21 GeneProduct ensembl:ENSG00000184678
H4C11 GeneProduct ensembl:ENSG00000197238
SRCAP GeneProduct ensembl:ENSG00000080603
H2AX GeneProduct ensembl:ENSG00000188486
H4C2 GeneProduct ensembl:ENSG00000278705
H2BC14 GeneProduct ensembl:ENSG00000273703
H4C6 GeneProduct ensembl:ENSG00000274618
Histone H4 GeneProduct uniprot:P62805
H2AC8 GeneProduct ensembl:ENSG00000277075
ASF1A GeneProduct ensembl:ENSG00000111875
ASF1B GeneProduct ensembl:ENSG00000105011
H2BC13 GeneProduct ensembl:ENSG00000185130
H4C8 GeneProduct ensembl:ENSG00000158406
GATAD2B GeneProduct ensembl:ENSG00000143614
GATAD2A GeneProduct ensembl:ENSG00000167491
MBD2 GeneProduct ensembl:ENSG00000134046
POLR1B GeneProduct ensembl:ENSG00000125630
POLR1C GeneProduct ensembl:ENSG00000171453
POLR1D GeneProduct ensembl:ENSG00000186184
H2A Protein uniprot:B2R5B3
H2B Protein uniprot:B4DR52
H3 Protein uniprot:B4E380
H4 Protein uniprot:P62805
H4 lysine 91 Protein None

References

  1. The transcriptional coactivators p300 and CBP are histone acetyltransferases. Ogryzko VV, Schiltz RL, Russanova V, Howard BH, Nakatani Y. Cell. 1996 Nov 29;87(5):953–9. PubMed Europe PMC Scholia
  2. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, et al. Hum Mol Genet. 1999 Oct;8(11):2047–53. PubMed Europe PMC Scholia
  3. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, et al. Hum Mol Genet. 2001 Jul 1;10(14):1441–8. PubMed Europe PMC Scholia
  4. Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases. Silljé HH, Nigg EA. Curr Biol. 2001 Jul 10;11(13):1068–73. PubMed Europe PMC Scholia
  5. An immediate response of ribosomal transcription to growth factor stimulation in mammals is mediated by ERK phosphorylation of UBF. Stefanovsky VY, Pelletier G, Hannan R, Gagnon-Kugler T, Rothblum LI, Moss T. Mol Cell. 2001 Nov;8(5):1063–73. PubMed Europe PMC Scholia
  6. Rrn3 phosphorylation is a regulatory checkpoint for ribosome biogenesis. Cavanaugh AH, Hirschler-Laszkiewicz I, Hu Q, Dundr M, Smink T, Misteli T, et al. J Biol Chem. 2002 Jul 26;277(30):27423–32. PubMed Europe PMC Scholia
  7. Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3. Brackertz M, Boeke J, Zhang R, Renkawitz R. J Biol Chem. 2002 Oct 25;277(43):40958–66. PubMed Europe PMC Scholia
  8. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, et al. Am J Hum Genet. 2005 Apr;76(4):572–80. PubMed Europe PMC Scholia
  9. TBP-TAF complex SL1 directs RNA polymerase I pre-initiation complex formation and stabilizes upstream binding factor at the rDNA promoter. Friedrich JK, Panov KI, Cabart P, Russell J, Zomerdijk JCBM. J Biol Chem. 2005 Aug 19;280(33):29551–8. PubMed Europe PMC Scholia
  10. p66alpha and p66beta of the Mi-2/NuRD complex mediate MBD2 and histone interaction. Brackertz M, Gong Z, Leers J, Renkawitz R. Nucleic Acids Res. 2006 Jan 13;34(2):397–406. PubMed Europe PMC Scholia
  11. MBD2/NuRD and MBD3/NuRD, two distinct complexes with different biochemical and functional properties. Le Guezennec X, Vermeulen M, Brinkman AB, Hoeijmakers WAM, Cohen A, Lasonder E, et al. Mol Cell Biol. 2006 Feb;26(3):843–51. PubMed Europe PMC Scholia
  12. Extracellular signal-regulated protein kinase in human intractable epilepsy. Xi ZQ, Wang XF, He RQ, Li MW, Liu XZ, Wang LY, et al. Eur J Neurol. 2007 Aug;14(8):865–72. PubMed Europe PMC Scholia
  13. Structural basis of site-specific histone recognition by the bromodomains of human coactivators PCAF and CBP/p300. Zeng L, Zhang Q, Gerona-Navarro G, Moshkina N, Zhou MM. Structure. 2008 Apr;16(4):643–52. PubMed Europe PMC Scholia
  14. Functional characterization of human nucleosome assembly protein 1-like proteins as histone chaperones. Okuwaki M, Kato K, Nagata K. Genes Cells. 2010 Jan;15(1):13–27. PubMed Europe PMC Scholia
  15. Phosphorylation-mediated control of histone chaperone ASF1 levels by Tousled-like kinases. Pilyugin M, Demmers J, Verrijzer CP, Karch F, Moshkin YM. PLoS One. 2009 Dec 16;4(12):e8328. PubMed Europe PMC Scholia
  16. Structural insights into acetylated-histone H4 recognition by the bromodomain-PHD finger module of human transcriptional coactivator CBP. Plotnikov AN, Yang S, Zhou TJ, Rusinova E, Frasca A, Zhou MM. Structure. 2014 Feb 4;22(2):353–60. PubMed Europe PMC Scholia
  17. 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
  18. Reactome pathway analysis: a high-performance in-memory approach. Fabregat A, Sidiropoulos K, Viteri G, Forner O, Marin-Garcia P, Arnau V, et al. BMC Bioinformatics. 2017 Mar 2;18(1):142. PubMed Europe PMC Scholia
  19. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, et al. Am J Hum Genet. 2017 Aug 3;101(2):267–73. PubMed Europe PMC Scholia
  20. KAT2A coupled with the α-KGDH complex acts as a histone H3 succinyltransferase. Wang Y, Guo YR, Liu K, Yin Z, Liu R, Xia Y, et al. Nature. 2017 Dec 14;552(7684):273–7. PubMed Europe PMC Scholia
  21. A recurrent de novo missense mutation in UBTF causes developmental neuroregression. Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, et al. Hum Mol Genet. 2018 Feb 15;27(4):691–705. PubMed Europe PMC Scholia
  22. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, et al. Am J Hum Genet. 2018 Jun 7;102(6):1195–203. PubMed Europe PMC Scholia
  23. A variant NuRD complex containing PWWP2A/B excludes MBD2/3 to regulate transcription at active genes. Zhang T, Wei G, Millard CJ, Fischer R, Konietzny R, Kessler BM, et al. Nat Commun. 2018 Sep 18;9(1):3798. PubMed Europe PMC Scholia
  24. Glutarylation of Histone H4 Lysine 91 Regulates Chromatin Dynamics. Bao X, Liu Z, Zhang W, Gladysz K, Fung YME, Tian G, et al. Mol Cell. 2019 Nov 21;76(4):660-675.e9. PubMed Europe PMC Scholia
  25. Structural basis of nucleosome dynamics modulation by histone variants H2A.B and H2A.Z.2.2. Zhou M, Dai L, Li C, Shi L, Huang Y, Guo Z, et al. EMBO J. 2021 Jan 4;40(1):e105907. PubMed Europe PMC Scholia
  26. Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions. Nahas LD, Datta A, Alsamman AM, Adly MH, Al-Dewik N, Sekaran K, et al. Metab Brain Dis. 2024 Jan;39(1):29–42. PubMed Europe PMC Scholia
  27. Reducing Filamin A Restores Cortical Synaptic Connectivity and Early Social Communication Following Cellular Mosaicism in Autism Spectrum Disorder Pathways. Binder MS, Escobar I, Xu Y, Sokolov AM, Zhang L, Bordey A. J Neurosci. 2024 Sep 25;44(39):e1245232024. PubMed Europe PMC Scholia