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. Note: This description may include information from UniProtKB.
Molecular Function: protein C-terminus binding; protein domain specific binding; protein binding; structure-specific DNA binding; single-stranded DNA specific endodeoxyribonuclease activity; damaged DNA binding; single-stranded DNA binding
Biological Process: oogenesis; chromosome organization and biogenesis; DNA recombination; germ cell development; negative regulation of telomere maintenance; UV protection; post-embryonic hemopoiesis; transcription-coupled nucleotide-excision repair; double-strand break repair; nucleotide-excision repair, DNA damage removal; nucleotide-excision repair, DNA incision, 5'-to lesion; response to nutrient; response to X-ray; mitotic recombination; multicellular organism growth; male gonad development; isotype switching; pyrimidine dimer repair via nucleotide-excision repair; multicellular organismal aging; DNA repair; replicative cell aging; syncytium formation; response to sucrose stimulus; nucleotide-excision repair, DNA incision, 3'-to lesion; cell proliferation; nucleotide-excision repair; embryonic organ development; spermatogenesis; response to oxidative stress; negative regulation of apoptosis
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.
