Excision Repair Cross Complementing Rodent Repair Deficiency Complementation 1 (ERCC1)

UV20; DNA excision repair protein ERCC-1

SPN	Q179
HGNC	3433
MGI	95412
PubMed	23514287
RGD	1306992
UniProt	P07992
Wiki	ERCC1

ERCC1 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, 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.

Reference

"Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10."
Cell 44:913-923(1986) [PubMed] [Europe PMC] [Abstract]

"Identification of DNA repair genes in the human genome."
Cold Spring Harb. Symp. Quant. Biol. 51:91-101(1986) [PubMed] [Europe PMC] [Abstract]

"A nucleotide polymorphism in ERCC1 in human ovarian cancer cell lines and tumor tissues."
Mutat. Res. 382:13-20(1997) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biology of human chromosome 19."
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]

"ERCC1 function in nuclear excision and interstrand crosslink repair pathways is mediated exclusively by the ERCC1-202 isoform."
Cell Cycle 12:3298-3306(2013) [PubMed] [Europe PMC] [Abstract]

"ERCC1 isoform expression and DNA repair in non-small-cell lung cancer."
N. Engl. J. Med. 368:1101-1110(2013) [PubMed] [Europe PMC] [Abstract]

"Crystal structure and DNA binding functions of ERCC1, a subunit of the DNA structure-specific endonuclease XPF-ERCC1."
Proc. Natl. Acad. Sci. U.S.A. 102:11236-11241(2005) [PubMed] [Europe PMC] [Abstract]

"The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair."
Structure 13:1849-1858(2005) [PubMed] [Europe PMC] [Abstract]

"First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure."
Am. J. Hum. Genet. 80:457-466(2007) [PubMed] [Europe PMC] [Abstract]

"Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia."
Am. J. Hum. Genet. 92:807-819(2013) [PubMed] [Europe PMC] [Abstract]