Excision Repair Cross Complementing Rodent Repair Deficiency Complementation 6 (ERCC6)

CSB; ARMD5; CKN2; COFS; RAD26; Cockayne Syndrome B Protein; DNA excision repair protein ERCC-6; ATP-dependent helicase ERCC6; Cockayne syndrome protein CSB

SPN	S072
HGNC	3438
MGI	1100494
PubMed	21072178
RGD	1311509
UniProt	Q03468
Wiki	ERCC6

The ERCC6 protein is a DNA-binding protein important in transcription-coupled excision repair. The protein has ATP-stimulated ATPase activity; there are contradictory publications reporting presence or absence of helicase activity. The protein appears to interact with several transcription and excision repair proteins, and may promote complex formation at repair sites.ERCC6 gene corrected the repair defect in cells from patients with type B Cockayne syndrome, but had no effect on the UV sensitivity of cells from patients with type A Cockayne syndrome or cells from the nucleotide excision repair-defective disorder xeroderma pigmentosum. Mutation analysis of a patient with type B CS indicated that the gene is not essential for cell viability, but is specific for preferential repair of lesions from the transcribed strand of active genes.

Reference

"ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes."
Cell 71:939-953(1992) [PubMed] [Europe PMC] [Abstract]

"Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B."
Nucleic Acids Res. 21:419-426(1993) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 10."
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]

"A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy."
Hum. Mutat. 14:9-22(1999) [PubMed] [Europe PMC] [Abstract]

"Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene."
Am. J. Hum. Genet. 66:1221-1228(2000) [PubMed] [Europe PMC] [Abstract]

"Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum."
Hum. Mol. Genet. 9:1171-1175(2000) [PubMed] [Europe PMC] [Abstract]

"Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome."
Proc. Natl. Acad. Sci. U.S.A. 101:15410-15415(2004) [PubMed] [Europe PMC] [Abstract]

"The Cockayne syndrome group B protein is a functional dimer."
FEBS J. 272:4306-4314(2005) [PubMed] [Europe PMC] [Abstract]

"The CSB protein actively wraps DNA."
J. Biol. Chem. 280:4722-4729(2005) [PubMed] [Europe PMC] [Abstract]

"CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome."
Genes Dev. 20:1429-1434(2006) [PubMed] [Europe PMC] [Abstract]

"The WSTF-SNF2h chromatin remodeling complex interacts with several nuclear proteins in transcription."
J. Biol. Chem. 281:16264-16271(2006) [PubMed] [Europe PMC] [Abstract]

"Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo."
Mol. Cell 23:471-482(2006) [PubMed] [Europe PMC] [Abstract]

"Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition."
Proc. Natl. Acad. Sci. U.S.A. 103:9256-9261(2006) [PubMed] [Europe PMC] [Abstract]

"Protein lysine methyltransferase G9a acts on non-histone targets."
Nat. Chem. Biol. 4:344-346(2008) [PubMed] [Europe PMC] [Abstract]

"A quantitative atlas of mitotic phosphorylation."
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]

"A ubiquitin-binding domain in cockayne syndrome B required for transcription-coupled nucleotide excision repair."
Mol. Cell 38:637-648(2010) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair."
Nat. Genet. 44:586-592(2012) [PubMed] [Europe PMC] [Abstract]

"UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair."
Nat. Genet. 44:598-602(2012) [PubMed] [Europe PMC] [Abstract]

"Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair."
Nat. Genet. 44:593-597(2012) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome."
Am. J. Hum. Genet. 62:77-85(1998) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]

"Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome."
Hum. Mutat. 31:113-126(2010) [PubMed] [Europe PMC] [Abstract]