ERCC2

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Identifikatori

ERCC2; COFS2; EM9; TTD; XPD

Vanjski ID

OMIM: 126340 MGI: 95413 HomoloGene: 344 GeneCards: ERCC2 Gene

EC broj

3.6.4.12

Ontologija gena
Molekularna funkcija	• nukleotidno vezivanje • DNK vezivanje • aktivnost ATP zavisne DNK helikaze • aktivnost helikaze • aktivnost proteinske kinaze • proteinsko vezivanje • ATP vezivanje • vezivanje proteinskog C-terminusa • aktivnost DNK zavisne ATPaze
Celularna komponenta	• SSL2 jezgro TFIIH kompleks • nukleus • nukleoplazma • holo TFIIH kompleks • citoplazma • vreteno • citoskeleton • MMXD komplex
Biološki proces	• kontrolna tačka ćelijskog ciklusa • popravka nukleotidnim isecanjem • respons na hipoksiju • in utero embrionski razvoj • metabolički proces jedinjenja koja sadrže nukleobazu • popravka DNK • popravka isecanjem nukleotida spregnuta sa transkripcijom • popravka isecanjem nukleotida

Pregled RNK izražavanja

podaci

Ortolozi

Vrsta

Čovek

Miš

Entrez

2068

13871

Ensembl

ENSG00000104884

ENSMUSG00000030400

UniProt

P18074

O08811

RefSeq (mRNA)

NM_000400.3

NM_007949.4

RefSeq (protein)

NP_000391.1

NP_031975.2

Lokacija (UCSC)

Chr 19:
45.85 - 45.87 Mb

Chr 7:
19.97 - 19.98 Mb

PubMed pretraga

[1]

[2]

ERCC2 (XPD) je protein koji učestvuje u transkripciono spregnutoj popravci isecanjem nukleotida.

XPD gen kodira 2.3-kb dugu iRNK koja sadrži 22 eksona i 21 introna. XPD protein je polipeptid da 760 aminokiselina i masom od 87 kDa. Defekti ovog gena mogu da proizvedu tri različita poremećaja: kanceru skloni sindrom Kseroderma pigmentozum komplementacije grupe D, trihotiodistrofiju, i Kokejnov sindrom.^[1]

Interakcije

ERCC2 formira interakcije sa GTF2H2,^[2]^[3] GTF2H1,^[4]^[5] ERCC5^[6] i XPB.^[4]^[6]^[7]^[8]

Reference

↑ „Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)”.
↑ Coin, F; Marinoni J C, Rodolfo C, Fribourg S, Pedrini A M, Egly J M (October 1998). „Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH”. Nat. Genet. (UNITED STATES) 20 (2): 184–8. DOI:10.1038/2491. ISSN 1061-4036. PMID 9771713.
↑ Vermeulen, W; Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers J H, Egly J M (November 2000). „Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder”. Nat. Genet. (UNITED STATES) 26 (3): 307–13. DOI:10.1038/81603. ISSN 1061-4036. PMID 11062469.
↑ ^4,0 ^4,1 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.
↑ 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.
↑ ^6,0 ^6,1 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.
↑ 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 (July 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.
↑ 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.

Literatura

Broughton BC, Thompson AF, Harcourt SA, et al. (1995). „Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.”. Am. J. Hum. Genet. 56 (1): 167–74. PMC 1801309. PMID 7825573.
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.
Lehmann AR (2001). „The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.”. Genes Dev. 15 (1): 15–23. DOI:10.1101/gad.859501. PMID 11156600.
Benhamou S, Sarasin A (2003). „ERCC2/XPD gene polymorphisms and cancer risk.”. Mutagenesis 17 (6): 463–9. DOI:10.1093/mutage/17.6.463. PMID 12435843.
Clarkson SG, Wood RD (2006). „Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal.”. DNA Repair (Amst.) 4 (10): 1068–74. DOI:10.1016/j.dnarep.2005.07.001. PMID 16054878.