GTF2H2

GTF2H2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Z60, 5IVW, 5IY9, 5IY8, 5IY7, 5IY6
Identifiers
Aliases	GTF2H2, BTF2, BTF2P44, T-BTF2P44, TFIIH, p44, general transcription factor IIH subunit 2
External IDs	OMIM: 601748; MGI: 1345669; HomoloGene: 1159; GeneCards: GTF2H2; OMA:GTF2H2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q13.2 Start 71,032,670 bp[1] End 71,067,689 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 D1|13 53.21 cM Start 100,596,726 bp[2] End 100,629,087 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endometrium sural nerve corpus callosum gonad Achilles tendon islet of Langerhans monocyte testicle mucosa of transverse colon smooth muscle tissue Top expressed in tail of embryo zygote morula genital tubercle neural layer of retina ventricular zone right kidney embryo embryo yolk sac More reference expression data BioGPS n/a
Gene ontology Molecular function protein kinase activity ATP-dependent activity, acting on DNA protein N-terminus binding DNA-binding transcription factor activity zinc ion binding translation factor activity, RNA binding metal ion binding protein binding RNA polymerase II CTD heptapeptide repeat kinase activity nucleic acid binding RNA polymerase II general transcription initiation factor activity Cellular component nucleoplasm transcription factor TFIIH holo complex transcription factor TFIIH core complex core TFIIH complex portion of holo TFIIH complex nucleus transcription factor TFIID complex nuclear speck Biological process termination of RNA polymerase I transcription G protein-coupled receptor internalization regulation of transcription, DNA-templated transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping transcription by RNA polymerase II transcription, DNA-templated cellular response to DNA damage stimulus global genome nucleotide-excision repair transcription-coupled nucleotide-excision repair transcription initiation from RNA polymerase II promoter nucleotide-excision repair, DNA incision response to UV nucleotide-excision repair, preincision complex assembly DNA repair protein biosynthesis nucleotide-excision repair, DNA incision, 5'-to lesion nucleotide-excision repair, preincision complex stabilization protein phosphorylation nucleotide-excision repair regulation of transcription by RNA polymerase II positive regulation of DNA helicase activity nucleotide-excision repair, DNA duplex unwinding nucleotide-excision repair, DNA incision, 3'-to lesion transcription elongation from RNA polymerase I promoter Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2966 23894 Ensembl ENSG00000145736 ENSG00000276910 ENSG00000275045 ENSMUSG00000021639 UniProt Q13888 Q9JIB4 RefSeq (mRNA) NM_001515 NM_022011 NM_001360706 RefSeq (protein) NP_001506 NP_001351496 NP_001351497 NP_001351498 NP_001351499 NP_001351500 NP_001351501 NP_001351502 NP_071294 NP_001347635 Location (UCSC) Chr 5: 71.03 – 71.07 Mb Chr 13: 100.6 – 100.63 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

General transcription factor IIH subunit 2 is a protein that in humans is encoded by the GTF2H2 gene.^[5][6]

Function

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

GTF2H2 has been shown to interact with GTF2H5,^[7][8] XPB^[7][9] and ERCC2.^[8][10]

See also

• Transcription Factor II H

References

1. ENSG00000276910, ENSG00000275045 GRCh38: Ensembl release 89: ENSG00000145736, ENSG00000276910, ENSG00000275045 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000021639 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. PMC 395104. PMID 8194529.
6. "Entrez Gene: GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa".
7. Giglia-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. PMID 15220921.
8. Vermeulen 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. PMID 11062469. S2CID 25233797.
9. 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. PMC 1169708. PMID 9118947.
10. 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. PMID 9771713. S2CID 28250605.

Further reading

• 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. PMID 8870499.
• Jeang KT (1998). "Tat, Tat-associated kinase, and transcription". J. Biomed. Sci. 5 (1): 24–7. doi:10.1007/BF02253352. PMID 9570510.
• 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. PMID 9651670. S2CID 15480646.
• 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. PMID 7552146. S2CID 46083524.
• 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. PMID 7664335. S2CID 16109644.
• 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. PMC 231191. PMID 8628270.
• 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. PMID 8652557.
• 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. PMC 39049. PMID 8692841.
• 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. PMC 39050. PMID 8692842.
• 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. PMID 8849451. S2CID 13266489.
• 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. PMID 8934526. S2CID 4278432.
• 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. PMC 1712562. PMID 8981949.
• 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. PMID 9054383.
• 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. PMID 9063743.
• 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. PMC 1169708. PMID 9118947.
• 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. PMC 232028. PMID 9121429.
• 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. PMC 1169767. PMID 9130708.
• 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. PMC 1169892. PMID 9184228.

External links

• Overview of all the structural information available in the PDB for UniProt: Q13888 (General transcription factor IIH subunit 2) at the PDBe-KB.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.