DNA excision repair protein ERCC6 or Cockayne syndrome complementation group B-correcting protein
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Function
- role in preferential repair of active genes
- putative transcription-repair coupling factor presumed to recognize RNA polymerase 2 stalled at DNA lesions & recruit components of the repair machinery to the site of the lesion
- presumed DNA or RNA unwinding function
- corrects the UV survival & RNA synthesis after UV exposure of Cockayne syndrome complementation group B
- phosphorylated upon DNA damage, probably by ATM or ATR
- interacts with the CSA protein & a subunit of RNA polymerase 2 TFIIH
- component of the B-WICH complex
Structure
- belongs to the SNF2/RAD54 helicase family
- contains 1 helicase ATP-binding domain
- contains 1 helicase C-terminal domain
Compartment
nucleus (probable)
Pathology
- defects in ERCC6 are the cause of
- Cockayne syndrome type B
- cerebro-oculo-facio-skeletal syndrome type 1
- defects in ERCC6 are a cause of
- genetic variation in ERCC6 is associated with susceptibility to age-related macular degeneration type 5
Comparative biology
- Excision Repair Cross Complement-6 (ERCC6) protein in rodents
More general terms
- helicase (DNA unwinding protein, DNA untwisting protein)
- phosphoprotein
- excision repair cross complement
Component of
References
- ↑ Bootsma D & Hoeijmakers JH DNA repair. Engagement with transcription. Nature 363:114 1993 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8483493
- ↑ Drapkin R, Reinberg D. The multifunctional TFIIH complex and transcriptional control. Trends Biochem Sci. 1994 Nov;19(11):504-8. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7855896
- ↑ Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell. 1992 Dec 11;71(6):939-53. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1339317
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2074
- ↑ UniProt http://www.uniprot.org/uniprot/Q03468.html
- ↑ Allelic variations of the XP genes http://www.xpmutations.org/
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/CSBID302.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6
- ↑ NIEHS-SNPs http://egp.gs.washington.edu/data/ercc6/
Database
- UniProt: http://www.uniprot.org/uniprot/Q03468.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2074
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2074
- OMIM: https://mirror.omim.org/entry/133540
- OMIM: https://mirror.omim.org/entry/214150
- OMIM: https://mirror.omim.org/entry/278800
- OMIM: https://mirror.omim.org/entry/600630
- OMIM: https://mirror.omim.org/entry/609413