ERCC2

Identifikatori
Simboli	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
Entrez	2068
Ensembl	ENSG00000104884
UniProt	P18074
RefSeq (mRNA)	NM_000400.3
RefSeq (protein)	NP_000391.1
Lokacija (UCSC)	Chr 19:; 45.85 - 45.87 Mb
PubMed pretraga	[1]

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 JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM (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. ISSN 1061-4036. PMID 9771713. doi:10.1038/2491.
^ Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (2000). „Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder”. Nat. Genet. UNITED STATES. 26 (3): 307—13. ISSN 1061-4036. PMID 11062469. doi:10.1038/81603.
^ ^а ^б Drapkin R, Reardon JT, Ansari A, Huang JC, Zawel L, Ahn K, Sancar A, Reinberg D (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.
^ Rossignol M, Kolb-Cheynel I, Egly JM (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.
^ ^а ^б Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC (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.
^ Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (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. ISSN 1061-4036. PMID 15220921. doi:10.1038/ng1387.
^ Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM (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. ISSN 0261-4189. PMC 1169708 . PMID 9118947. doi:10.1093/emboj/16.5.1093.

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. 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.
Lehmann AR (2001). „The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.”. Genes Dev. 15 (1): 15—23. PMID 11156600. doi:10.1101/gad.859501.
Benhamou S, Sarasin A (2003). „ERCC2/XPD gene polymorphisms and cancer risk.”. Mutagenesis. 17 (6): 463—9. PMID 12435843. doi:10.1093/mutage/17.6.463.
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. PMID 16054878. doi:10.1016/j.dnarep.2005.07.001.

Spoljašnje veze

Xeroderma Pigmentosum
ERCC2+Protein на US National Library of Medicine Medical Subject Headings (MeSH)

[1] „Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)”.

[pmid9771713-2] Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM (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. ISSN 1061-4036. PMID 9771713. doi:10.1038/2491.

[pmid11062469-3] Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (2000). „Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder”. Nat. Genet. UNITED STATES. 26 (3): 307—13. ISSN 1061-4036. PMID 11062469. doi:10.1038/81603.

[pmid8152490-4] а ^б Drapkin R, Reardon JT, Ansari A, Huang JC, Zawel L, Ahn K, Sancar A, Reinberg D (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.

[pmid9130708-5] Rossignol M, Kolb-Cheynel I, Egly JM (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.

[pmid8652557-6] а ^б Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC (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.

[pmid15220921-7] Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (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. ISSN 1061-4036. PMID 15220921. doi:10.1038/ng1387.

[pmid9118947-8] Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM (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. ISSN 0261-4189. PMC 1169708 . PMID 9118947. doi:10.1093/emboj/16.5.1093.

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