ERCC6
| Excision repair cross-complementing rodent repair deficiency, complementation group 6 | |||||||||||
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| Identifiers | |||||||||||
| Symbols | ERCC6 ; CSB; ARMD5; CKN2; COFS; RAD26 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 6279 | ||||||||||
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| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Excision repair cross-complementing rodent repair deficiency, complementation group 6, also known as ERCC6, is a human gene.[1]
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.[1]
References
Further reading
- Cleaver JE, Thompson LH, Richardson AS, States JC (1999). "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy". Hum. Mutat. 14 (1): 9–22. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. PMID 10447254.
- Troelstra C, van Gool A, de Wit J; et al. (1993). "ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes". Cell. 71 (6): 939–53. PMID 1339317.
- Troelstra C, Landsvater RM, Wiegant J; et al. (1992). "Localization of the nucleotide excision repair gene ERCC6 to human chromosome 10q11-q21". Genomics. 12 (4): 745–9. PMID 1349298.
- Fryns JP, Bulcke J, Verdu P; et al. (1991). "Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2))". Am. J. Med. Genet. 40 (3): 343–4. doi:10.1002/ajmg.1320400320. PMID 1951442.
- Troelstra C, Odijk H, de Wit J; et al. (1990). "Molecular cloning of the human DNA excision repair gene ERCC-6". Mol. Cell. Biol. 10 (11): 5806–13. PMID 2172786.
- Wang XW, Yeh H, Schaeffer L; et al. (1995). "p53 modulation of TFIIH-associated nucleotide excision repair activity". Nat. Genet. 10 (2): 188–95. doi:10.1038/ng0695-188. PMID 7663514.
- Henning KA, Li L, Iyer N; et al. (1995). "The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH". Cell. 82 (4): 555–64. PMID 7664335.
- Troelstra C, Hesen W, Bootsma D, Hoeijmakers JH (1993). "Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B.". Nucleic Acids Res. 21 (3): 419–26. PMID 8382798.
- Iyer N, Reagan MS, Wu KJ; et al. (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. 35 (7): 2157–67. doi:10.1021/bi9524124. PMID 8652557.
- Selby CP, Sancar A (1997). "Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II". J. Biol. Chem. 272 (3): 1885–90. PMID 8999876.
- Boulikas T (1997). "Nuclear import of DNA repair proteins". Anticancer Res. 17 (2A): 843–63. PMID 9137418.
- Selby CP, Sancar A (1997). "Cockayne syndrome group B protein enhances elongation by RNA polymerase II". Proc. Natl. Acad. Sci. U.S.A. 94 (21): 11205–9. PMID 9326587.
- Tantin D, Kansal A, Carey M (1997). "Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes". Mol. Cell. Biol. 17 (12): 6803–14. PMID 9372911.
- Mallery DL, Tanganelli B, Colella S; et al. (1998). "Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome". Am. J. Hum. Genet. 62 (1): 77–85. PMID 9443879.
- Lindsay HD, Griffiths DJ, Edwards RJ; et al. (1998). "S-phase-specific activation of Cds1 kinase defines a subpathway of the checkpoint response in Schizosaccharomyces pombe". Genes Dev. 12 (3): 382–95. PMID 9450932.
- Tantin D (1998). "RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62". J. Biol. Chem. 273 (43): 27794–9. PMID 9774388.
- Dianov G, Bischoff C, Sunesen M, Bohr VA (1999). "Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells". Nucleic Acids Res. 27 (5): 1365–8. PMID 9973627.
- Colella S, Nardo T, Mallery D; et al. (1999). "Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity". Hum. Mol. Genet. 8 (5): 935–41. PMID 10196384.
- Cheng L, Guan Y, Li L; et al. (1999). "Expression in normal human tissues of five nucleotide excision repair genes measured simultaneously by multiplex reverse transcription-polymerase chain reaction". Cancer Epidemiol. Biomarkers Prev. 8 (9): 801–7. PMID 10498399.
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