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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
Entrez	2071
Ensembl	ENSG00000163161
UniProt	P19447
RefSeq (mRNA)	NM_000122.1
RefSeq (protein)	NP_000113.1
Lokacija (UCSC)	Chr 2:; 128.01 - 128.05 Mb
PubMed pretraga	[1]

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

^ 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.
^ 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.
^ 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.
^ ^а ^б ^в ^г ^д ^ђ 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.
^ ^а ^б ^в ^г 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.
^ 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.
^ 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.
^ 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.
^ ^а ^б 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.
^ 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.
^ 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)

[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.

[pmid10734143-2] 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.

[pmid9874796-3] 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.

[pmid15220921-4] а ^б ^в ^г ^д ^ђ 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.

[pmid9118947-5] а ^б ^в ^г 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.

[pmid8152490-6] 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.

[pmid8652557-7] 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.

[pmid7663514-8] 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.

[pmid9130708-9] а ^б 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.

[pmid8521393-10] 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.

[pmid9173976-11] 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.

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XPB