ERCC2

Из 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
PBB GE ERCC2 213468 at tn.png
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[уреди]

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

Reference[уреди]

  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. ^ а б 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. ^ а б 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[уреди]

Spoljašnje veze[уреди]