ERCC2

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Identifikatori
SimboliERCC2; COFS2; EM9; TTD; XPD
Vanjski IDOMIM126340 MGI95413 HomoloGene344 GeneCards: ERCC2 Gene
EC broj3.6.4.12
Pregled RNK izražavanja
podaci
Ortolozi
VrstaČovekMiš
Entrez206813871
EnsemblENSG00000104884ENSMUSG00000030400
UniProtP18074O08811
RefSeq (mRNA)NM_000400.3NM_007949.4
RefSeq (protein)NP_000391.1NP_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

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

Reference

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  1. „Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)”. 
  2. 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. 
  3. 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. 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. 
  5. 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. 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. 
  7. 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. 
  8. 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

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Spoljašnje veze

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