GTF2H2
General transcription factor IIH subunit 2is aproteinthat in humans is encoded by theGTF2H2gene.[5][6]
Function
[edit]This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene.[6]
Interactions
[edit]GTF2H2 has been shown tointeractwithGTF2H5,[7][8]XPB[7][9]andERCC2.[8][10]
See also
[edit]References
[edit]- ^abcENSG00000276910, ENSG00000275045 GRCh38: Ensembl release 89: ENSG00000145736, ENSG00000276910, ENSG00000275045–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000021639–Ensembl,May 2017
- ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JH, Egly JM, Moncollin V (June 1994)."p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair".EMBO J.13(10): 2393–8.doi:10.1002/j.1460-2075.1994.tb06523.x.PMC395104.PMID8194529.
- ^ab"Entrez Gene: GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa".
- ^abGiglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (July 2004)."A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A".Nat. Genet.36(7): 714–9.doi:10.1038/ng1387.PMID15220921.
- ^abVermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (November 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder".Nat. Genet.26(3): 307–13.doi:10.1038/81603.PMID11062469.S2CID25233797.
- ^Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM (March 1997)."Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH".EMBO J.16(5): 1093–102.doi:10.1093/emboj/16.5.1093.PMC1169708.PMID9118947.
- ^Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM (October 1998). "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH".Nat. Genet.20(2): 184–8.doi:10.1038/2491.PMID9771713.S2CID28250605.
Further reading
[edit]- Svejstrup JQ, Vichi P, Egly JM (1996). "The multiple roles of transcription/repair factor TFIIH".Trends Biochem. Sci.21(9): 346–50.doi:10.1016/s0968-0004(96)10046-3.PMID8870499.
- Jeang KT (1998). "Tat, Tat-associated kinase, and transcription".J. Biomed. Sci.5(1): 24–7.doi:10.1007/BF02253352.PMID9570510.
- Yankulov K, Bentley D (1998)."Transcriptional control: Tat cofactors and transcriptional elongation".Curr. Biol.8(13): R447-9.Bibcode:1998CBio....8.R447Y.doi:10.1016/S0960-9822(98)70289-1.PMID9651670.S2CID15480646.
- van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velonà I, Den Dunnen JT, Scheffer H, Brahe C, van Ommen GJ (1995). "A provisional transcript map of the spinal muscular atrophy (SMA) critical region".Eur. J. Hum. Genet.3(2): 87–95.doi:10.1159/000472281.PMID7552146.S2CID46083524.
- Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC (1995)."The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH".Cell.82(4): 555–64.doi:10.1016/0092-8674(95)90028-4.PMID7664335.S2CID16109644.
- Blau J, Xiao H, McCracken S, O'Hare P, Greenblatt J, Bentley D (1996)."Three functional classes of transcriptional activation domain".Mol. Cell. Biol.16(5): 2044–55.doi:10.1128/MCB.16.5.2044.PMC231191.PMID8628270.
- Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC (1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein".Biochemistry.35(7): 2157–67.doi:10.1021/bi9524124.PMID8652557.
- Reardon JT, Ge H, Gibbs E, Sancar A, Hurwitz J, Pan ZQ (1996)."Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH".Proc. Natl. Acad. Sci. U.S.A.93(13): 6482–7.Bibcode:1996PNAS...93.6482R.doi:10.1073/pnas.93.13.6482.PMC39049.PMID8692841.
- Drapkin R, Le Roy G, Cho H, Akoulitchev S, Reinberg D (1996)."Human cyclin-dependent kinase-activating kinase exists in three distinct complexes".Proc. Natl. Acad. Sci. U.S.A.93(13): 6488–93.Bibcode:1996PNAS...93.6488D.doi:10.1073/pnas.93.13.6488.PMC39050.PMID8692842.
- Zhou Q, Sharp PA (1996). "Tat-SF1: cofactor for stimulation of transcriptional elongation by HIV-1 Tat".Science.274(5287): 605–10.Bibcode:1996Sci...274..605Z.doi:10.1126/science.274.5287.605.PMID8849451.S2CID13266489.
- Parada CA, Roeder RG (1996). "Enhanced processivity of RNA polymerase II triggered by Tat-induced phosphorylation of its carboxy-terminal domain".Nature.384(6607): 375–8.Bibcode:1996Natur.384..375P.doi:10.1038/384375a0.PMID8934526.S2CID4278432.
- Bürglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, Egly JM, Melki J (1997)."The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease".Am. J. Hum. Genet.60(1): 72–9.PMC1712562.PMID8981949.
- García-Martínez LF, Ivanov D,Gaynor RB(1997)."Association of Tat with purified HIV-1 and HIV-2 transcription preinitiation complexes".J. Biol. Chem.272(11): 6951–8.doi:10.1074/jbc.272.11.6951.PMID9054383.
- Carter TA, Bönnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC (1997)."A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions".Hum. Mol. Genet.6(2): 229–36.doi:10.1093/hmg/6.2.229.PMID9063743.
- Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM (1997)."Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH".EMBO J.16(5): 1093–102.doi:10.1093/emboj/16.5.1093.PMC1169708.PMID9118947.
- Cujec TP, Cho H, Maldonado E, Meyer J, Reinberg D, Peterlin BM (1997)."The human immunodeficiency virus transactivator Tat interacts with the RNA polymerase II holoenzyme".Mol. Cell. Biol.17(4): 1817–23.doi:10.1128/mcb.17.4.1817.PMC232028.PMID9121429.
- Rossignol M, Kolb-Cheynel I, Egly JM (1997)."Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH".EMBO J.16(7): 1628–37.doi:10.1093/emboj/16.7.1628.PMC1169767.PMID9130708.
- García-Martínez LF, Mavankal G, Neveu JM, Lane WS, Ivanov D, Gaynor RB (1997)."Purification of a Tat-associated kinase reveals a TFIIH complex that modulates HIV-1 transcription".EMBO J.16(10): 2836–50.doi:10.1093/emboj/16.10.2836.PMC1169892.PMID9184228.
External links
[edit]- Overview of all the structural information available in thePDBforUniProt:Q13888(General transcription factor IIH subunit 2) at thePDBe-KB.
This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.