Aliases for ERCC1 Gene
External Ids for ERCC1 Gene
Previous GeneCards Identifiers for ERCC1 Gene
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]
GeneCards Summary for ERCC1 Gene
ERCC1 (Excision Repair Cross-Complementation Group 1) is a Protein Coding gene. Diseases associated with ERCC1 include Cerebrooculofacioskeletal Syndrome 4 and Cockayne Syndrome Type Ii. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Fanconi anemia pathway. GO annotations related to this gene include protein domain specific binding and single-stranded DNA binding.
UniProtKB/Swiss-Prot for ERCC1 Gene
Isoform 1: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4.