ERCC1
Also known as COFS4, RAD10, UV20, excision repair cross-complementation group 1, ERCC excision repair 1, endonuclease non-catalytic subunit
DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ERCC1 gene. Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.
Gene data
ERCC1- Name
- ERCC excision repair 1, endonuclease non-catalytic subunit
- Type
- protein-coding
- Position
- 45,407,333–45,478,867 (−)
- Aliases
- COFS4, RAD10, UV20
- Ensembl
- ENSG00000012061
- RefSeq RNA
- NM_001166049.2, NM_001369408.1, NM_001369409.1, NM_001369410.1, NM_001369411.1
- RefSeq protein
- NP_001159521.1, NP_001356337.1, NP_001356338.1, NP_001356339.1, NP_001356340.1
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, Oct 2009].
Article
18 sectionsContents
- Gene
- Protein
- Structure-specific nuclease
- Nucleotide excision repair
- DNA double-strand break repair
- DNA interstrand crosslink repair
- Clinical significance
- Cerebro-oculo-facio-skeletal syndrome
- Cockayne syndrome
- Relevance in chemotherapy
- Deficiency in cancer
- Accelerated aging
- Spermatogenesis and oogenesis
- Macular degeneration
- Notes
- References
- Further reading
- External links
DNA excision repair protein ERCC-1 is a protein that in humans is encoded by the ERCC1 gene. Together with ERCC4, ERCC1 forms the ERCC1-XPF enzyme complex that participates in DNA repair and DNA recombination.
Many aspects of these two gene products are described together here because they are partners during DNA repair. The ERCC1-XPF nuclease is an essential activity in the pathway of DNA nucleotide excision repair (NER). The ERCC1-XPF nuclease also functions in pathways to repair double-strand breaks in DNA, and in the repair of "crosslink" damage that harmfully links the two DNA strands.