Xeroderma Pigmentosum B

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Identifikatori

ERCC3; BTF2; GTF2H; RAD25; TFIIH; XPB

Vanjski ID

OMIM: 133510 MGI: 95414 HomoloGene: 96 GeneCards: ERCC3 Gene

EC broj

3.6.4.12

Ontologija gena
Molekularna funkcija	• nukleotidno vezivanje • DNK vezivanje • vezivanje oštećene DNK • aktivnost ATP-zavisne DNK helikaze • aktivnost helikaze • aktivnost proteinske kinaze • proteinsko vezivanje • ATP vezivanje • GTP vezivanje • vezivanje proteinskog C-terminusa • aktivnost DNK zavisne ATPaze • transkripcioni faktor vezivanja • aktivnost karboksi terminalnog domena kinaze RNK polimeraze II • aktivnost hidrolaze • aktivnost ATPaze • dATP vezivanje • peptidno vezivanje
Celularna komponenta	• SSL2-jezgro TFIIH kompleks • nukleus • nukleoplazma • holo TFIIH kompleks
Biološki proces	• kontrolna tačka ćelijskog ciklusa • popravka isecanjem nukleotida, odvijanje DNK dupleksa • respons na hipoksiju • ATP katabolički proces • promena DNK topologije • DNK popravka • popravka isecanjem nukleoda spregnuta sa transkripcijom • popravka isecanjem nukleotida • regulacija transkripcije, DNK-zavisna • transkripcija sa promotera RNK polimeraze I

Pregled RNK izražavanja

podaci

Ortolozi

Vrsta

Čovek

Miš

Entrez

2071

13872

Ensembl

ENSG00000163161

ENSMUSG00000024382

UniProt

P19447

P49135

RefSeq (mRNA)

NM_000122.1

NM_133658.1

RefSeq (protein)

NP_000113.1

NP_598419.1

Lokacija (UCSC)

Chr 2:
128.01 - 128.05 Mb

Chr 18:
32.4 - 32.43 Mb

PubMed pretraga

[1]

[2]

XPB (Xeroderma Pigmentosum B) je ATP zavisna ljudska DNK helikaza koja je deo kompleksa TFIIH transkripcionog faktora. 3D struktura XPB homologa je kristalografski.^[1]

Funkcija

XPB učestvuje u normalnoj bazalnoj transkripciji, transkripciono spregnutoj popravci (TCR), i popravci isecanjem nukleotida (NER). Pokazano jed a prečišćeni XPB razvija DNK u 3’-5’ pravcu.

Interakcije

XPB formira interakcije sa XPC,^[2] BCR genom,^[3] ERCC2,^[4]^[5]^[6]^[7] P53,^[8] GTF2H2,^[4]^[5] GTF2H1,^[4]^[5]^[9] GTF2H5,^[4] ciklin zavisnom kinazom,^[4]^[9]^[10] PSMC5^[11] i GTF2H4.^[4]^[5]

Literatura

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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.
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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.
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.
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.
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.
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.

Reference

↑ 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 (March 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 (January 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.
↑ ^4,0 ^4,1 ^4,2 ^4,3 ^4,4 ^4,5 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 (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.
↑ ^5,0 ^5,1 ^5,2 ^5,3 Marinoni, J C; Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez D M, Hoeijmakers J H, Egly J M (March 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.
↑ Drapkin, R; Reardon J T, Ansari A, Huang J C, Zawel L, Ahn K, Sancar A, Reinberg D (April 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 (February 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 (June 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.
↑ ^9,0 ^9,1 Rossignol, M; Kolb-Cheynel I, Egly J M (April 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.
↑ Yee, A; Nichols M A, Wu L, Hall F L, Kobayashi R, Xiong Y (December 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 (June 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.