XPB

Excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)
Identifiers
Symbols	ERCC3; BTF2; GTF2H; RAD25; TFIIH; XPB
External IDs	OMIM: 133510 MGI: 95414 HomoloGene: 96 GeneCards: ERCC3 Gene
EC number	3.6.4.12
Gene Ontology
Molecular function	• nucleotide binding; • DNA binding; • damaged DNA binding; • ATP-dependent DNA helicase activity; • helicase activity; • protein kinase activity; • protein binding; • ATP binding; • GTP binding; • protein C-terminus binding; • DNA-dependent ATPase activity; • DNA-dependent ATPase activity; • transcription factor binding; • RNA polymerase II carboxy-terminal domain kinase activity; • hydrolase activity; • ATPase activity; • dATP binding; • peptide binding; • 3'-5' DNA helicase activity; • 3'-5' DNA helicase activity; • protein N-terminus binding;
Cellular component	• SSL2-core TFIIH complex; • nucleus; • nucleoplasm; • nucleoplasm; • holo TFIIH complex; • holo TFIIH complex;
Biological process	• cell cycle checkpoint; • nucleotide-excision repair, DNA duplex unwinding; • nucleotide-excision repair, DNA damage removal; • response to hypoxia; • ATP catabolic process; • DNA topological change; • DNA repair; • DNA repair; • transcription-coupled nucleotide-excision repair; • transcription-coupled nucleotide-excision repair; • nucleotide-excision repair; • nucleotide-excision repair; • regulation of transcription, DNA-dependent; • transcription from RNA polymerase I promoter; • transcription initiation from RNA polymerase I promoter; • transcription elongation from RNA polymerase I promoter; • termination of RNA polymerase I transcription; • transcription from RNA polymerase II promoter; • transcription from RNA polymerase II promoter; • transcription from RNA polymerase II promoter; • transcription initiation from RNA polymerase II promoter; • transcription initiation from RNA polymerase II promoter; • transcription elongation from RNA polymerase II promoter; • transcription elongation from RNA polymerase II promoter; • mRNA capping; • protein phosphorylation; • induction of apoptosis; • induction of apoptosis; • response to oxidative stress; • protein localization; • response to UV; • UV protection; • gene expression; • viral reproduction; • nucleotide-excision repair, DNA incision; • hair cell differentiation; • interspecies interaction between organisms; • positive regulation of transcription from RNA polymerase II promoter; • positive regulation of viral transcription;
	Sources: Amigo / QuickGO
RNA expression pattern
	More reference expression data
Orthologs

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XPB (Xeroderma Pigmentosum B) is an ATP dependent human DNA helicase that is a part of the TFIIH transcription factor complex.

[edit] Structure

The 3D structure of the archeael homologue of XPB has been solved by X-ray crystallography by Dr. John Tainer and his group at The Scripps Research Institute.^[1]

[edit] Function

XPB plays a significant role in normal basal transcription, transcription coupled repair (TCR), and nucleotide excision repair (NER). Purified XPB has been shown to unwind DNA with 3’-5’polarity.

[edit] Disorders

Mutations in XPB and other related complementation groups, XPA-XPG, leads to a number of genetic disorders such as Xeroderma Pigmentosum, Cockayne's syndrome, and Trichothiodystrophy.

[edit] Interactions

XPB has been shown to interact with XPC,^[2] BCR gene,^[3] ERCC2,^[4]^[5]^[6]^[7] P53,^[8] GTF2H2,^[4]^[5] GTF2H1,^[4]^[5]^[9] GTF2H5,^[4] Cyclin-dependent kinase 7,^[4]^[9]^[10] PSMC5^[11] and GTF2H4.^[4]^[5]

[edit] See also

XP

[edit] References

^ Fan L, Arvai A, Cooper P, Iwai S, Hanaoka F, Tainer J (2006). "Conserved XPB core structure and motifs for DNA unwinding: implications for pathway selection of transcription or excision repair". Mol Cell 22 (1): 27–37. doi:10.1016/j.molcel.2006.02.017. PMID 16600867.
^ Yokoi, M; Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F (Mar. 2000). "The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA". J. Biol. Chem. (UNITED STATES) 275 (13): 9870–5. doi:10.1074/jbc.275.13.9870. ISSN 0021-9258. PMID 10734143.
^ Takeda, N; Shibuya M, Maru Y (Jan. 1999). "The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (1): 203–7. doi:10.1073/pnas.96.1.203. ISSN 0027-8424. PMC 15117. PMID 9874796. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=15117.
^ ^a ^b ^c ^d ^e ^f Giglia-Mari, Giuseppina; Coin Frederic, Ranish Jeffrey A, Hoogstraten Deborah, Theil Arjan, Wijgers Nils, Jaspers Nicolaas G J, Raams Anja, Argentini Manuela, van der Spek P J, Botta Elena, Stefanini Miria, Egly Jean-Marc, Aebersold Ruedi, Hoeijmakers Jan H J, Vermeulen Wim (Jul. 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. (United States) 36 (7): 714–9. doi:10.1038/ng1387. ISSN 1061-4036. PMID 15220921.
^ ^a ^b ^c ^d Marinoni, J C; Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez D M, Hoeijmakers J H, Egly J M (Mar. 1997). "Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH". EMBO J. (ENGLAND) 16 (5): 1093–102. doi:10.1093/emboj/16.5.1093. ISSN 0261-4189. PMC 1169708. PMID 9118947. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1169708.
^ Drapkin, R; Reardon J T, Ansari A, Huang J C, Zawel L, Ahn K, Sancar A, Reinberg D (Apr. 1994). "Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II". Nature (ENGLAND) 368 (6473): 769–72. doi:10.1038/368769a0. ISSN 0028-0836. PMID 8152490.
^ Iyer, N; Reagan M S, Wu K J, Canagarajah B, Friedberg E C (Feb. 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 (UNITED STATES) 35 (7): 2157–67. doi:10.1021/bi9524124. ISSN 0006-2960. PMID 8652557.
^ Wang, X W; Yeh H, Schaeffer L, Roy R, Moncollin V, Egly J M, Wang Z, Freidberg E C, Evans M K, Taffe B G (Jun. 1995). "p53 modulation of TFIIH-associated nucleotide excision repair activity". Nat. Genet. (UNITED STATES) 10 (2): 188–95. doi:10.1038/ng0695-188. ISSN 1061-4036. PMID 7663514.
^ ^a ^b Rossignol, M; Kolb-Cheynel I, Egly J M (Apr. 1997). "Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH". EMBO J. (ENGLAND) 16 (7): 1628–37. doi:10.1093/emboj/16.7.1628. ISSN 0261-4189. PMC 1169767. PMID 9130708. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1169767.
^ Yee, A; Nichols M A, Wu L, Hall F L, Kobayashi R, Xiong Y (Dec. 1995). "Molecular cloning of CDK7-associated human MAT1, a cyclin-dependent kinase-activating kinase (CAK) assembly factor". Cancer Res. (UNITED STATES) 55 (24): 6058–62. ISSN 0008-5472. PMID 8521393.
^ Weeda, G; Rossignol M, Fraser R A, Winkler G S, Vermeulen W, van 't Veer L J, Ma L, Hoeijmakers J H, Egly J M (Jun. 1997). "The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor". Nucleic Acids Res. (ENGLAND) 25 (12): 2274–83. doi:10.1093/nar/25.12.2274. ISSN 0305-1048. PMC 146752. PMID 9173976. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=146752.

[edit] Further reading

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. doi:10.1016/S0960-9822(98)70289-1. PMID 9651670.
Cleaver JE, Thompson LH, Richardson AS, States JC (1999). "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.". Hum. Mutat. 14 (1): 9–22. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. PMID 10447254.
Ma L, Weeda G, Jochemsen AG, et al. (1992). "Molecular and functional analysis of the XPBC/ERCC-3 promoter: transcription activity is dependent on the integrity of an Sp1-binding site.". Nucleic Acids Res. 20 (2): 217–24. doi:10.1093/nar/20.2.217. PMC 310357. PMID 1741247. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=310357.
Weeda G, Wiegant J, van der Ploeg M, et al. (1991). "Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.". Genomics 10 (4): 1035–1040. doi:10.1016/0888-7543(91)90195-K. PMID 1916809.
Weeda G, Ma LB, van Ham RC, et al. (1991). "Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome.". Nucleic Acids Res. 19 (22): 6301–6308. doi:10.1093/nar/19.22.6301. PMC 329143. PMID 1956789. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=329143.
Weeda G, van Ham RC, Masurel R, et al. (1990). "Molecular cloning and biological characterization of the human excision repair gene ERCC-3.". Mol. Cell. Biol. 10 (6): 2570–2581. PMC 360615. PMID 2111438. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=360615.
Weeda G, van Ham RC, Vermeulen W, et al. (1990). "A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.". Cell 62 (4): 777–91. doi:10.1016/0092-8674(90)90122-U. PMID 2167179.
Wang XW, Yeh H, Schaeffer L, et al. (1995). "p53 modulation of TFIIH-associated nucleotide excision repair activity.". Nat. Genet. 10 (2): 188–95. doi:10.1038/ng0695-188. PMID 7663514.
Maxon ME, Goodrich JA, Tjian R (1994). "Transcription factor IIE binds preferentially to RNA polymerase IIa and recruits TFIIH: a model for promoter clearance.". Genes Dev. 8 (5): 515–24. doi:10.1101/gad.8.5.515. PMID 7926747.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Drapkin R, Reardon JT, Ansari A, et al. (1994). "Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II". Nature 368 (6473): 769–72. doi:10.1038/368769a0. PMID 8152490.
van Vuuren AJ, Vermeulen W, Ma L, et al. (1994). "Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH)". EMBO J. 13 (7): 1645–1653. PMC 394995. PMID 8157004. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=394995.
Schaeffer L, Moncollin V, Roy R, et al. (1994). "The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor". EMBO J. 13 (10): 2388–2392. PMC 395103. PMID 8194528. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=395103.
Guzder SN, Sung P, Bailly V, et al. (1994). "RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription". Nature 369 (6481): 578–81. doi:10.1038/369578a0. PMID 8202161.
Vermeulen W, Scott RJ, Rodgers S, et al. (1994). "Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3". Am. J. Hum. Genet. 54 (2): 191–200. PMC 1918172. PMID 8304337. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1918172.
Scott RJ, Itin P, Kleijer WJ, et al. (1993). "Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair". J. Am. Acad. Dermatol. 29 (5 Pt 2): 883–9. doi:10.1016/0190-9622(93)70263-S. PMID 8408834.
Blau J, Xiao H, McCracken S, et al. (1996). "Three functional classes of transcriptional activation domain". Mol. Cell. Biol. 16 (5): 2044–2055. PMC 231191. PMID 8628270. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=231191.
Iyer N, Reagan MS, Wu KJ, et al. (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): 2157–2167. doi:10.1021/bi9524124. PMID 8652557.
Hwang JR, Moncollin V, Vermeulen W, et al. (1996). "A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription". J. Biol. Chem. 271 (27): 15898–904. doi:10.1074/jbc.271.27.15898. PMID 8663148.

[edit] External links

[0] Fan L, Arvai A, Cooper P, Iwai S, Hanaoka F, Tainer J (2006). "Conserved XPB core structure and motifs for DNA unwinding: implications for pathway selection of transcription or excision repair". Mol Cell 22 (1): 27–37. doi:10.1016/j.molcel.2006.02.017. PMID 16600867.

[pmid10734143-1] Yokoi, M; Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F (Mar. 2000). "The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA". J. Biol. Chem. (UNITED STATES) 275 (13): 9870–5. doi:10.1074/jbc.275.13.9870. ISSN 0021-9258. PMID 10734143.

[pmid9874796-2] Takeda, N; Shibuya M, Maru Y (Jan. 1999). "The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 96 (1): 203–7. doi:10.1073/pnas.96.1.203. ISSN 0027-8424. PMC 15117. PMID 9874796. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=15117.

[pmid15220921-3] ^ ^a ^b ^c ^d ^e ^f Giglia-Mari, Giuseppina; Coin Frederic, Ranish Jeffrey A, Hoogstraten Deborah, Theil Arjan, Wijgers Nils, Jaspers Nicolaas G J, Raams Anja, Argentini Manuela, van der Spek P J, Botta Elena, Stefanini Miria, Egly Jean-Marc, Aebersold Ruedi, Hoeijmakers Jan H J, Vermeulen Wim (Jul. 2004). "A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A". Nat. Genet. (United States) 36 (7): 714–9. doi:10.1038/ng1387. ISSN 1061-4036. PMID 15220921.

[pmid9118947-4] Marinoni, J C; Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez D M, Hoeijmakers J H, Egly J M (Mar. 1997). "Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH". EMBO J. (ENGLAND) 16 (5): 1093–102. doi:10.1093/emboj/16.5.1093. ISSN 0261-4189. PMC 1169708. PMID 9118947. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1169708.

[pmid8152490-5] Drapkin, R; Reardon J T, Ansari A, Huang J C, Zawel L, Ahn K, Sancar A, Reinberg D (Apr. 1994). "Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II". Nature (ENGLAND) 368 (6473): 769–72. doi:10.1038/368769a0. ISSN 0028-0836. PMID 8152490.

[pmid8652557-6] Iyer, N; Reagan M S, Wu K J, Canagarajah B, Friedberg E C (Feb. 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 (UNITED STATES) 35 (7): 2157–67. doi:10.1021/bi9524124. ISSN 0006-2960. PMID 8652557.

[pmid7663514-7] Wang, X W; Yeh H, Schaeffer L, Roy R, Moncollin V, Egly J M, Wang Z, Freidberg E C, Evans M K, Taffe B G (Jun. 1995). "p53 modulation of TFIIH-associated nucleotide excision repair activity". Nat. Genet. (UNITED STATES) 10 (2): 188–95. doi:10.1038/ng0695-188. ISSN 1061-4036. PMID 7663514.

[pmid9130708-8] Rossignol, M; Kolb-Cheynel I, Egly J M (Apr. 1997). "Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH". EMBO J. (ENGLAND) 16 (7): 1628–37. doi:10.1093/emboj/16.7.1628. ISSN 0261-4189. PMC 1169767. PMID 9130708. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1169767.

[pmid8521393-9] Yee, A; Nichols M A, Wu L, Hall F L, Kobayashi R, Xiong Y (Dec. 1995). "Molecular cloning of CDK7-associated human MAT1, a cyclin-dependent kinase-activating kinase (CAK) assembly factor". Cancer Res. (UNITED STATES) 55 (24): 6058–62. ISSN 0008-5472. PMID 8521393.

[pmid9173976-10] Weeda, G; Rossignol M, Fraser R A, Winkler G S, Vermeulen W, van 't Veer L J, Ma L, Hoeijmakers J H, Egly J M (Jun. 1997). "The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor". Nucleic Acids Res. (ENGLAND) 25 (12): 2274–83. doi:10.1093/nar/25.12.2274. ISSN 0305-1048. PMC 146752. PMID 9173976. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=146752.

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XPB

Contents

[edit] Structure

[edit] Function

[edit] Disorders

[edit] Interactions

[edit] See also

[edit] References

[edit] Further reading

[edit] External links

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