ERCC1 cDNA Clone – Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 1 (Includes Overlapping Antisense Sequence) (Human)

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]

ERCC1: a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA excision repair. Belongs to the ERCC1/RAD10/SWI10 family. Heterodimer composed of ERCC1 and XPF/ERRC4. Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4, a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur. Low levels of this protein are associated with increased sensitivity to cisplatin. The overall survival of non-small cell lung cancer patients with single-nucleotide polymorphisms at codon 118 receiving platinum-based chemotherapy was significantly improved.

Protein type: DNA repair, damage

Chromosomal Location of Human Ortholog: 19q13.32

Cellular Component: cytoplasm; nuclear chromosome, telomeric region; nucleoplasm; nucleotide-excision repair complex

Molecular Function: damaged DNA binding; protein binding; protein C-terminus binding; protein domain specific binding; single-stranded DNA binding; single-stranded DNA specific endodeoxyribonuclease activity; structure-specific DNA binding

Biological Process: DNA recombination; DNA repair; meiotic mismatch repair; mitotic recombination; negative regulation of telomere maintenance; nucleotide-excision repair; nucleotide-excision repair, DNA incision; nucleotide-excision repair, DNA incision, 3'-to lesion; nucleotide-excision repair, DNA incision, 5'-to lesion; nucleotide-excision repair, preincision complex stabilization; response to oxidative stress; transcription-coupled nucleotide-excision repair

Disease: Cerebrooculofacioskeletal Syndrome 4