RNA-polymerase II transcription: the preinitiation complex (Homo sapiens)

From WikiPathways

Revision as of 10:48, 11 August 2025 by Fehrhart (Talk | contribs)
Jump to: navigation, search


Description

This pathway shows the molecular details about the RNA Polymerase II transcription: the preinitiation complex. These processes are involved in the Tessadori-Bicknell-van Haaften syndrome 3 (TEBINVAD) - for an overview of this syndrome see WP5575.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Osman S, Mohammad E, Lidschreiber M, Stuetzer A, Bazsó FL, Maier KC, Urlaub H, Cramer P; ''The Cdk8 kinase module regulates interaction of the mediator complex with RNA polymerase II.''; J Biol Chem, 2021 PubMed Europe PMC Scholia
  2. Sandoz J, Nagy Z, Catez P, Caliskan G, Geny S, Renaud JB, Concordet JP, Poterszman A, Tora L, Egly JM, Le May N, Coin F; ''Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.''; Nat Commun, 2019 PubMed Europe PMC Scholia
  3. Zhou M, Dai L, Li C, Shi L, Huang Y, Guo Z, Wu F, Zhu P, Zhou Z; ''Structural basis of nucleosome dynamics modulation by histone variants H2A.B and H2A.Z.2.2.''; EMBO J, 2021 PubMed Europe PMC Scholia
  4. Narita T, Yamaguchi Y, Yano K, Sugimoto S, Chanarat S, Wada T, Kim DK, Hasegawa J, Omori M, Inukai N, Endoh M, Yamada T, Handa H; ''Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex.''; Mol Cell Biol, 2003 PubMed Europe PMC Scholia
  5. Wu Y, Liu F, Wan R, Jiao B; ''A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy.''; Front Genet, 2023 PubMed Europe PMC Scholia
  6. Hacker KE, Fahey CC, Shinsky SA, Chiang YJ, DiFiore JV, Jha DK, Vo AH, Shavit JA, Davis IJ, Strahl BD, Rathmell WK; ''Structure/Function Analysis of Recurrent Mutations in SETD2 Protein Reveals a Critical and Conserved Role for a SET Domain Residue in Maintaining Protein Stability and Histone H3 Lys-36 Trimethylation.''; J Biol Chem, 2016 PubMed Europe PMC Scholia
  7. Marzin P, Rondeau S, Aldinger KA, Alessandri JL, Isidor B, Heron D, Keren B, Dobyns WB, Cormier-Daire V; ''SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.''; Am J Med Genet C Semin Med Genet, 2019 PubMed Europe PMC Scholia
  8. Tirode F, Busso D, Coin F, Egly JM; ''Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.''; Mol Cell, 1999 PubMed Europe PMC Scholia
  9. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE; ''Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.''; Nature, 2012 PubMed Europe PMC Scholia
  10. Hanly SM, Bleecker GC, Heintz N; ''Identification of promoter elements necessary for transcriptional regulation of a human histone H4 gene in vitro.''; Mol Cell Biol, 1985 PubMed Europe PMC Scholia
  11. Monté D, Lens Z, Dewitte F, Fislage M, Aumercier M, Verger A, Villeret V; ''Structural basis of human Mediator recruitment by the phosphorylated transcription factor Elk-1.''; Nat Commun, 2025 PubMed Europe PMC Scholia
  12. Richardson RT, Alekseev OM, Grossman G, Widgren EE, Thresher R, Wagner EJ, Sullivan KD, Marzluff WF, O'Rand MG; ''Nuclear autoantigenic sperm protein (NASP), a linker histone chaperone that is required for cell proliferation.''; J Biol Chem, 2006 PubMed Europe PMC Scholia
  13. Yang X, Huang LY, Pan M, Xu LL, Zhen L, Han J, Li DZ; ''Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.''; Prenat Diagn, 2020 PubMed Europe PMC Scholia
  14. Wood CM, Nicholson JM, Lambert SJ, Chantalat L, Reynolds CD, Baldwin JP; ''High-resolution structure of the native histone octamer.''; Acta Crystallogr Sect F Struct Biol Cryst Commun, 2005 PubMed Europe PMC Scholia
  15. Okuwaki M, Kato K, Nagata K; ''Functional characterization of human nucleosome assembly protein 1-like proteins as histone chaperones.''; Genes Cells, 2010 PubMed Europe PMC Scholia
  16. Carvalho S, Raposo AC, Martins FB, Grosso AR, Sridhara SC, Rino J, Carmo-Fonseca M, de Almeida SF; ''Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription.''; Nucleic Acids Res, 2013 PubMed Europe PMC Scholia
  17. Yamaguchi Y, Takagi T, Wada T, Yano K, Furuya A, Sugimoto S, Hasegawa J, Handa H; ''NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation.''; Cell, 1999 PubMed Europe PMC Scholia
  18. Louder RK, He Y, López-Blanco JR, Fang J, Chacón P, Nogales E; ''Structure of promoter-bound TFIID and model of human pre-initiation complex assembly.''; Nature, 2016 PubMed Europe PMC Scholia
  19. van Rij MC, Hollink IHIM, Terhal PA, Kant SG, Ruivenkamp C, van Haeringen A, Kievit JA, van Belzen MJ; ''Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.''; Am J Med Genet A, 2018 PubMed Europe PMC Scholia
  20. Goodfellow SJ, Zomerdijk JC; ''Basic mechanisms in RNA polymerase I transcription of the ribosomal RNA genes.''; Subcell Biochem, 2013 PubMed Europe PMC Scholia
  21. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J; ''Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.''; Science, 2012 PubMed Europe PMC Scholia
  22. Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK; ''Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.''; Am J Hum Genet, 2019 PubMed Europe PMC Scholia
  23. Lumish HS, Wynn J, Devinsky O, Chung WK; ''Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.''; J Autism Dev Disord, 2015 PubMed Europe PMC Scholia
  24. Tsunaka Y, Fujiwara Y, Oyama T, Hirose S, Morikawa K; ''Integrated molecular mechanism directing nucleosome reorganization by human FACT.''; Genes Dev, 2016 PubMed Europe PMC Scholia
  25. Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V; ''Mutations in SETD2 cause a novel overgrowth condition.''; J Med Genet, 2014 PubMed Europe PMC Scholia
  26. Chen X, Wang X, Liu W, Ren Y, Qu X, Li J, Yin X, Xu Y; ''Structures of +1 nucleosome-bound PIC-Mediator complex.''; Science, 2022 PubMed Europe PMC Scholia
  27. Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB; ''Redefining the Etiologic Landscape of Cerebellar Malformations.''; Am J Hum Genet, 2019 PubMed Europe PMC Scholia
  28. Yuan CX, Ito M, Fondell JD, Fu ZY, Roeder RG; ''The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion.''; Proc Natl Acad Sci U S A, 1998 PubMed Europe PMC Scholia
  29. Smol T, Thuillier C, Boudry-Labis E, Dieux-Coeslier A, Duban-Bedu B, Caumes R, Bouquillon S, Manouvrier-Hanu S, Roche-Lestienne C, Ghoumid J; ''Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.''; Neurogenetics, 2020 PubMed Europe PMC Scholia
  30. Allen BL, Taatjes DJ; ''The Mediator complex: a central integrator of transcription.''; Nat Rev Mol Cell Biol, 2015 PubMed Europe PMC Scholia
  31. Machida S, Takaku M, Ikura M, Sun J, Suzuki H, Kobayashi W, Kinomura A, Osakabe A, Tachiwana H, Horikoshi Y, Fukuto A, Matsuda R, Ura K, Tashiro S, Ikura T, Kurumizaka H; ''Nap1 stimulates homologous recombination by RAD51 and RAD54 in higher-ordered chromatin containing histone H1.''; Sci Rep, 2014 PubMed Europe PMC Scholia
  32. Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J; ''Genotype-phenotype correlation at codon 1740 of SETD2.''; Am J Med Genet A, 2020 PubMed Europe PMC Scholia
  33. Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH; ''De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.''; J Med Genet, 2020 PubMed Europe PMC Scholia
  34. Ito M, Yuan CX, Malik S, Gu W, Fondell JD, Yamamura S, Fu ZY, Zhang X, Qin J, Roeder RG; ''Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators.''; Mol Cell, 1999 PubMed Europe PMC Scholia
  35. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y; ''MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.''; Ann Neurol, 2021 PubMed Europe PMC Scholia
  36. Richter WF, Nayak S, Iwasa J, Taatjes DJ; ''The Mediator complex as a master regulator of transcription by RNA polymerase II.''; Nat Rev Mol Cell Biol, 2022 PubMed Europe PMC Scholia
  37. Liu Y, Zhang Y, Xue H, Cao M, Bai G, Mu Z, Yao Y, Sun S, Fang D, Huang J; ''Cryo-EM structure of SETD2/Set2 methyltransferase bound to a nucleosome containing oncohistone mutations.''; Cell Discov, 2021 PubMed Europe PMC Scholia
  38. Chen M, Quan Y, Duan G, Wu H, Bai T, Wang Y, Zhou S, Ou J, Shen Y, Hu Z, Xia K, Guo H; ''Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.''; Eur J Med Genet, 2021 PubMed Europe PMC Scholia
  39. Visconti R, Palazzo L, Della Monica R, Grieco D; ''Fcp1-dependent dephosphorylation is required for M-phase-promoting factor inactivation at mitosis exit.''; Nat Commun, 2012 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
140339view19:29, 11 August 2025EgonwModified description
140328view10:54, 11 August 2025Fehrhartgraphical corrections
140327view10:48, 11 August 2025FehrhartModified description
140196view08:32, 6 August 2025DuanChanged the ELK1 binding to the mediator 23 only based on the literature review.
139711view10:24, 1 July 2025Jmlohmannadded pathway reference and legend TFIID complex
139627view10:05, 24 June 2025Jmlohmannensured RNA-polymerase II was written the same everywhere.
139509view09:43, 20 June 2025JmlohmannAdded reference
139465view03:39, 19 June 2025EgonwModified description
139450view09:33, 18 June 2025JmlohmannAdded legend
139445view14:49, 17 June 2025KhanspersOntology Term : 'regulatory pathway' added !
139444view14:49, 17 June 2025KhanspersOntology Term : 'RNA polymerase II transcription pathway' added !
139443view14:47, 17 June 2025KhanspersOntology Term : 'PW:0002656' removed !
139442view14:47, 17 June 2025KhanspersOntology Term : 'DNA biosynthetic pathway' added !
139439view10:11, 17 June 2025Jmlohmannadded genes for RNA polymerase 2 complex and CDK-8 interaction
139404view09:54, 15 June 2025EgonwMade a pathway clickable
139403view09:53, 15 June 2025EgonwType a gene as GeneProduct
139351view19:24, 3 June 2025JmlohmannAdded transcription initation pathway + Wikipathway identifier
139350view19:16, 3 June 2025Jmlohmannchanged 2 into II
139349view19:15, 3 June 2025JmlohmannNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
C-terminus RNA-polymerase IIComplex
CCNCGeneProductENSG00000112237 (Ensembl)
CDK8GeneProductENSG00000132964 (Ensembl)
CTDP1GeneProductENSG00000060069 (Ensembl)
ELK1GeneProductENSG00000126767 (Ensembl)
ERCC3GeneProductENSG00000163161 (Ensembl)
Epilepsy or seizure causing genes
Eukaryotic transcription initiationPathwayWP405 (WikiPathways)
GTF2A1GeneProductENSG00000165417 (Ensembl)
GTF2BGeneProductENSG00000137947 (Ensembl)
GTF2E2GeneProductENSG00000197265 (Ensembl)
GTF2F1GeneProductENSG00000125651 (Ensembl)
MED10GeneProductENSG00000133398 (Ensembl)
MED11GeneProductENSG00000161920 (Ensembl)
MED12GeneProductENSG00000184634 (Ensembl)
MED13GeneProductENSG00000108510 (Ensembl)
MED14GeneProductENSG00000180182 (Ensembl)
MED15GeneProductENSG00000099917 (Ensembl)
MED16GeneProductENSG00000175221 (Ensembl)
MED17GeneProductENSG00000042429 (Ensembl)
MED18GeneProductENSG00000130772 (Ensembl)
MED19GeneProductENSG00000156603 (Ensembl)
MED1GeneProductENSG00000125686 (Ensembl)
MED20GeneProductENSG00000124641 (Ensembl)
MED21GeneProductENSG00000152944 (Ensembl)
MED22GeneProductENSG00000148297 (Ensembl)
MED23GeneProductENSG00000112282 (Ensembl)
MED24GeneProductENSG00000008838 (Ensembl)
MED25GeneProductENSG00000104973 (Ensembl)
MED26GeneProductENSG00000105085 (Ensembl)
MED27GeneProductENSG00000160563 (Ensembl)
MED28GeneProductENSG00000118579 (Ensembl)
MED29GeneProductENSG00000063322 (Ensembl)
MED30GeneProductENSG00000164758 (Ensembl)
MED31GeneProductENSG00000108590 (Ensembl)
MED4GeneProductENSG00000136146 (Ensembl)
MED6GeneProductENSG00000133997 (Ensembl)
MED7GeneProductENSG00000155868 (Ensembl)
MED8GeneProductENSG00000159479 (Ensembl)
MED9GeneProductENSG00000141026 (Ensembl)
Mediator 26-subunit
NELFAGeneProductENSG00000185049 (Ensembl)
NELFBGeneProductENSG00000188986 (Ensembl)
NELFCDGeneProductENSG00000101158 (Ensembl)
NELFEGeneProductENSG00000204356 (Ensembl)
POLR2AGeneProductENSG00000181222 (Ensembl)
POLR2BGeneProductENSG00000047315 (Ensembl)
POLR2CGeneProductENSG00000102978 (Ensembl)
POLR2DGeneProductENSG00000144231 (Ensembl)
POLR2EGeneProductPOLR2E (HGNC)
POLR2FGeneProductENSG00000100142 (Ensembl)
POLR2GGeneProductENSG00000168002 (Ensembl)
POLR2HProteinC9JJJ9 (Uniprot-TrEMBL)
POLR2IGeneProductENSG00000105258 (Ensembl)
POLR2JGeneProductENSG00000005075 (Ensembl)
POLR2KGeneProductENSG00000147669 (Ensembl)
POLR2LGeneProductENSG00000177700 (Ensembl)
POLR2MGeneProductENSG00000255529 (Ensembl)
Promoter escapePathway
Promoter openingPathway
RNA-polymerase IIComplex
RNA-polymerase II Transcription ElongationPathwayR-HSA-75955 (Reactome)
TAF 13-subunit
TAF10GeneProductENSG00000166337 (Ensembl)
TAF11GeneProductENSG00000064995 (Ensembl)
TAF12GeneProductENSG00000120656 (Ensembl)
TAF13GeneProductENSG00000197780 (Ensembl)
TAF1GeneProductENSG00000147133 (Ensembl)
TAF2GeneProductENSG00000064313 (Ensembl)
TAF3GeneProductENSG00000165632 (Ensembl)
TAF4GeneProductENSG00000130699 (Ensembl)
TAF5GeneProductENSG00000148835 (Ensembl)
TAF6GeneProductENSG00000106290 (Ensembl)
TAF7GeneProductENSG00000178913 (Ensembl)
TAF8GeneProductENSG00000137413 (Ensembl)
TAF9GeneProductENSG00000273841 (Ensembl)
TBPGeneProductENSG00000112592 (Ensembl)
TFIID ComplexComplex
THRAGeneProductENSG00000126351 (Ensembl)
Transcription factor
Transcription factors (TF)
Transcriptional activationPathway

Annotated Interactions

No annotated interactions