XPB

Identifikatori
Simboli	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

• KT, Jeang (1998). „Tat, Tat-associated kinase, and transcription.”. J. Biomed. Sci. 5 (1): 24—7. PMID 9570510. doi:10.1007/BF02253352. 
• Yankulov K, Bentley D (1998). „Transcriptional control: Tat cofactors and transcriptional elongation.”. Curr. Biol. 8 (13): R447—9. PMID 9651670. doi:10.1016/S0960-9822(98)70289-1. 
• 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. PMID 10447254. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. 
• L, Ma; Weeda G; AG, Jochemsen; 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. PMC 310357 . PMID 1741247. doi:10.1093/nar/20.2.217. 
• G, Weeda; 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. PMID 1916809. doi:10.1016/0888-7543(91)90195-K. 
• G, Weeda; 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. PMC 329143 . PMID 1956789. doi:10.1093/nar/19.22.6301. 
• G, Weeda; van Ham RC; R, Masurel; 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. 
• G, Weeda; van Ham RC; W, Vermeulen; 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. PMID 2167179. doi:10.1016/0092-8674(90)90122-U. 
• XW, Wang; Yeh H; L, Schaeffer; et al. (1995). „p53 modulation of TFIIH-associated nucleotide excision repair activity.”. Nat. Genet. 10 (2): 188—95. PMID 7663514. doi:10.1038/ng0695-188. 
• 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. PMID 7926747. doi:10.1101/gad.8.5.515. 
• 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. PMID 8125298. doi:10.1016/0378-1119(94)90802-8. 
• R, Drapkin; Reardon JT; A, Ansari; et al. (1994). „Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II”. Nature. 368 (6473): 769—72. PMID 8152490. doi:10.1038/368769a0. 
• van Vuuren AJ; W, Vermeulen; 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. 
• L, Schaeffer; Moncollin V; R, Roy; 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. 
• SN, Guzder; Sung P; V, Bailly; et al. (1994). „RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription”. Nature. 369 (6481): 578—81. PMID 8202161. doi:10.1038/369578a0. 
• W, Vermeulen; Scott RJ; S, Rodgers; 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. 
• RJ, Scott; Itin P; WJ, Kleijer; 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. PMID 8408834. doi:10.1016/0190-9622(93)70263-S. 
• J, Blau; Xiao H; S, McCracken; et al. (1996). „Three functional classes of transcriptional activation domain”. Mol. Cell. Biol. 16 (5): 2044—2055. PMC 231191 . PMID 8628270. 
• N, Iyer; Reagan MS; KJ, Wu; 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. PMID 8652557. doi:10.1021/bi9524124. 
• JR, Hwang; Moncollin V; W, Vermeulen; 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. PMID 8663148. doi:10.1074/jbc.271.27.15898. 

Reference

1. 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. PMID 16600867. doi:10.1016/j.molcel.2006.02.017. 
2. Yokoi, M; et al. (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. ISSN 0021-9258. PMID 10734143. doi:10.1074/jbc.275.13.9870. 
3. Takeda, N; et al. (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. ISSN 0027-8424. PMC 15117 . PMID 9874796. doi:10.1073/pnas.96.1.203. 
4. Giglia-Mari, Giuseppina; et al. (2004). „A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A”. Nat. Genet. United States. 36 (7). ISSN 1061-4036. PMID 15220921. doi:10.1038/ng1387. 
5. Marinoni, J C; et al. (1997). „Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH”. EMBO J. ENGLAND. 16 (5): 714—9. ISSN 0261-4189. PMC 1169708 . PMID 9118947. doi:10.1093/emboj/16.5.1093. 
6. Drapkin, R; et al. (1994). „Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II”. Nature. ENGLAND. 368 (6473): 769—72. ISSN 0028-0836. PMID 8152490. doi:10.1038/368769a0. 
7. Iyer, N; 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. UNITED STATES. 35 (7): 2157—67. ISSN 0006-2960. PMID 8652557. doi:10.1021/bi9524124. 
8. Wang, X W; et al. (1995). „p53 modulation of TFIIH-associated nucleotide excision repair activity”. Nat. Genet. UNITED STATES. 10 (2): 188—95. ISSN 1061-4036. PMID 7663514. doi:10.1038/ng0695-188. 
9. Rossignol, M; et al. (1997). „Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH”. EMBO J. ENGLAND. 16 (7): 1628—37. ISSN 0261-4189. PMC 1169767 . PMID 9130708. doi:10.1093/emboj/16.7.1628. 
10. Yee, A; et al. (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. 
11. Weeda, G; et al. (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. ISSN 0305-1048. PMC 146752 . PMID 9173976. doi:10.1093/nar/25.12.2274. 

Vidi još

• Kseroderma pigmentozum

Spoljašnje veze

• Xeroderma Pigmentosum
• XPBC-ERCC-3+protein на US National Library of Medicine Medical Subject Headings (MeSH)