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ERCC2

С Википедије, слободне енциклопедије
Identifikatori
Simboli ERCC2; COFS2; EM9; TTD; XPD
Vanjski ID OMIM126340 MGI95413 HomoloGene344 GeneCards: ERCC2 Gene
EC broj 3.6.4.12
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]

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

  1. ^ „Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)”. 
  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. 
  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. 
  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. 
  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 1169767Слободан приступ. PMID 9130708. doi:10.1093/emboj/16.7.1628. 
  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. 
  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. 
  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 1169708Слободан приступ. PMID 9118947. doi:10.1093/emboj/16.5.1093. 

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