ERCC1

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.

Full Name

ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit

Alternative Names

ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit; Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 1 (Includes Overlapping Antisense Sequence); Excision Repair Cross-Complementation Group 1; DNA Excision Repair Protein ERCC-1; COFS4; RAD10; UV20;

Research Area

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.

Isoform 2:
Not functional in the nucleotide excision repair pathway.

Isoform 3:
Not functional in the nucleotide excision repair pathway.

Isoform 4:
Not functional in the nucleotide excision repair pathway.

Biological Process

Cell population proliferation Source: Ensembl
DNA recombination Source: MGI
DNA repair Source: MGI
Double-strand break repair via nonhomologous end joining Source: BHF-UCL
Embryonic organ development Source: Ensembl
Interstrand cross-link repair Source: Ensembl
Isotype switching Source: Ensembl
Male gonad development Source: Ensembl
Meiotic mismatch repair Source: GO_Central
Mitotic recombination Source: UniProtKB
Multicellular organism aging Source: Ensembl
Multicellular organism growth Source: Ensembl
Negative regulation of protection from non-homologous end joining at telomere Source: BHF-UCL
Negative regulation of telomere maintenance Source: UniProtKB
Nucleotide-excision repair Source: MGI
Nucleotide-excision repair, DNA incision, 3'-to lesion Source: UniProtKB
Nucleotide-excision repair, DNA incision, 5'-to lesion Source: UniProtKB
Oogenesis Source: Ensembl
Positive regulation of t-circle formation Source: BHF-UCL
Positive regulation of transcription initiation from RNA polymerase II promoter Source: Ensembl
Post-embryonic hemopoiesis Source: Ensembl
Pyrimidine dimer repair by nucleotide-excision repair Source: Ensembl
Replicative senescence Source: Ensembl
Response to cadmium ion Source: Ensembl
Response to immobilization stress Source: Ensembl
Response to nutrient Source: Ensembl
Response to oxidative stress Source: UniProtKB
Response to sucrose Source: Ensembl
Response to X-ray Source: Ensembl
Spermatogenesis Source: Ensembl
Syncytium formation Source: Ensembl
T-circle formation Source: BHF-UCL
Telomeric DNA-containing double minutes formation Source: BHF-UCL
UV-damage excision repair Source: GO_Central
UV protection Source: Ensembl

Cellular Location

Isoform 1&3&4: Nucleus
Isoform 2: Nucleus; Cytoplasm

Involvement in disease

Cerebro-oculo-facio-skeletal syndrome 4 (COFS4):
A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

PTM

Ubiquitinated with both 'Lys-48' and 'Lys-63' linkages (PubMed:25538220). Deubiquitinated by USP45 (PubMed:25538220).