XPB

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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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.
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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.
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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.