XPB

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

edit

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

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

• 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.
• 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.
• 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.
• 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.
• 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.