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DNA excision repair protein ERCC6 or Cockayne syndrome complementation group B-correcting protein

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 a) Cockayne syndrome type B b) cerebro-oculo-facio-skeletal syndrome type 1 - defects in ERCC6 are a cause of a) De Sanctis-Cacchione syndrome b) UV-sensitive syndrome - 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

Related

CS B-correcting protein or ERCC-6

General

excision repair cross complement (ERCC) or excision repair cross-complementing rodent repair deficiency, complementation group helicase (DNA unwinding protein, DNA untwisting protein) phosphoprotein

Properties

SIZE: MW = 168 kD entity length = 1493 aa COMPARTMENT: cell nucleus MOTIF: acidic region {356-396} MOTIF: aspartate residue (SEVERAL) glutamate residue (SEVERAL) specific amino acid-enriched region {440-446} MOTIF: glycine residue (SEVERAL) nuclear translocation signal {466-481} Ser phosphorylation site {S486} FOR-PHOSPHORYLATION-BY: casein kinase 2 active site SITE: 527-544 MOTIF: ATP-binding site NAME: ATP-binding site SITE: 532-539 active site SITE: 569-581 active site SITE: 640-650 MOTIF: DEGH box SITE: 646-649 MOTIF-SEQUENCE: DEGH active site SITE: 671-689 active site SITE: 858-869 active site SITE: 904-930 active site SITE: 937-950 nuclear translocation signal {1038-1056} Ser phosphorylation site {S1069} FOR-PHOSPHORYLATION-BY: casein kinase 2 ATP-binding site NAME: ATP-binding site SITE: 1135-1139

Database Correlations

OMIM correlations MORBIDMAP 609413 UniProt Q03468 PFAM correlations Entrez Gene 2074 Kegg hsa:2074

References

  1. Bootsma D & Hoeijmakers JH DNA repair. Engagement with transcription. Nature 363:114 1993 PMID: 8483493
  2. Drapkin R, Reinberg D. The multifunctional TFIIH complex and transcriptional control. Trends Biochem Sci. 1994 Nov;19(11):504-8. Review. PMID: 7855896
  3. 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: 1339317
  4. Entrez Gene :accession 2074
  5. UniProt :accession Q03468
  6. Allelic variations of the XP genes http://www.xpmutations.org/
  7. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/CSBID302.html
  8. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC6
  9. NIEHS-SNPs http://egp.gs.washington.edu/data/ercc6/