ERCC2

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Excision repair cross-complementation group 2
Identifiers
Symbols ERCC2 ; COFS2; EM9; TFIIH; TTD; XPD
External IDs OMIM126340 MGI95413 HomoloGene344 GeneCards: ERCC2 Gene
EC number 3.6.4.12
RNA expression pattern
PBB GE ERCC2 213468 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2068 13871
Ensembl ENSG00000104884 ENSMUSG00000030400
UniProt P18074 O08811
RefSeq (mRNA) NM_000400 NM_007949
RefSeq (protein) NP_000391 NP_031975
Location (UCSC) Chr 19:
45.85 – 45.87 Mb
Chr 7:
19.38 – 19.4 Mb
PubMed search [1] [2]

ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.

The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 exons and 21 introns. The XPD protein is a 760 amino acids polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome xeroderma pigmentosum complementation group D, photosensitive trichothiodystrophy, and Cockayne syndrome.[1]

Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity.[2] It belongs to the RAD3/XPD subfamily of helicases.

XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.

Interactions[edit]

ERCC2 has been shown to interact with GTF2H2,[3][4] GTF2H1,[5][6] ERCC5[7] and XPB.[5][7][8][9]

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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FluoropyrimidineActivity_WP1601 go to article go to article go to article go to pathway article go to pathway article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to PubChem Compound go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to pathway article go to pathway article go to article go to article go to article go to article go to article go to WikiPathways go to article go to article go to article go to article go to article go to article go to article go to article go to article
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FluoropyrimidineActivity_WP1601 go to article go to article go to article go to pathway article go to pathway article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to PubChem Compound go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to pathway article go to pathway article go to article go to article go to article go to article go to article go to WikiPathways go to article go to article go to article go to article go to article go to article go to article go to article go to article
|{{{bSize}}}px|alt=Fluorouracil (5-FU) Activity edit|]]
Fluorouracil (5-FU) Activity edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601". 

See also[edit]

References[edit]

  1. ^ "Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)". 
  2. ^ Lee TI, Young RA (2000). "Transcription of eukaryotic protein-coding genes". Annu. Rev. Genet. 34: 77–137. doi:10.1146/annurev.genet.34.1.77. PMID 11092823. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b 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. 
  6. ^ 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. 
  7. ^ a b 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. 
  8. ^ 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. 
  9. ^ 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. 

Further reading[edit]

External links[edit]