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ERCC1excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) |
Known also as: UV20; COFS4;
| NCBI Gene ID: | 2067 |
| NCBI Ensembl Id: | ENSG00000012061 |
| MIM Id: (from NCBI OMIM database) | 126380 |
| Species: | Homo sapiens |
| The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Park CH, Bessho T, Matsunaga T, Sancar A | Purification and characterization of the XPF-ERCC1 complex of human DNA repair excision nuclease. | J Biol Chem Sept. 1, 1995 |
| de Laat WL, Sijbers AM, Odijk H, Jaspers NG, Hoeijmakers JH | Mapping of interaction domains between human repair proteins ERCC1 and XPF. | Nucleic Acids Res Sept. 15, 1998 |
| Tsodikov OV, Enzlin JH, Scharer OD, Ellenberger T | Crystal structure and DNA binding functions of ERCC1, a subunit of the DNA structure-specific endonuclease XPF-ERCC1. | Proc Natl Acad Sci U S A Aug. 9, 2005 |
| Tripsianes K, Folkers GE, Zheng C, Das D, Grinstead JS, Kaptein R, Boelens R | Analysis of the XPA and ssDNA-binding surfaces on the central domain of human ERCC1 reveals evidence for subfunctionalization. | Nucleic Acids Res Jan. 1, 2007 |
Last modification of this entry: Oct. 6, 2010.
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