4cvo

Structural highlights

Disease

[ERCC6_HUMAN] Cockayne syndrome type 1;Cockayne syndrome type 3;Cockayne syndrome type 2;UV-sensitive syndrome;Age-related macular degeneration;COFS syndrome. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry.

Function

[ERCC6_HUMAN] Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.^{[1] [2] [3]}

References

1. ↑ Beerens N, Hoeijmakers JH, Kanaar R, Vermeulen W, Wyman C. The CSB protein actively wraps DNA. J Biol Chem. 2005 Feb 11;280(6):4722-9. Epub 2004 Nov 16. PMID:15548521 doi:http://dx.doi.org/10.1074/jbc.M409147200
2. ↑ Fousteri M, Vermeulen W, van Zeeland AA, Mullenders LH. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell. 2006 Aug;23(4):471-82. PMID:16916636 doi:http://dx.doi.org/10.1016/j.molcel.2006.06.029
3. ↑ Anindya R, Mari PO, Kristensen U, Kool H, Giglia-Mari G, Mullenders LH, Fousteri M, Vermeulen W, Egly JM, Svejstrup JQ. A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair. Mol Cell. 2010 Jun 11;38(5):637-48. doi: 10.1016/j.molcel.2010.04.017. PMID:20541997 doi:http://dx.doi.org/10.1016/j.molcel.2010.04.017