QuickView for ERCC1 (gene)

Gene Symbol:

ERCC1 Homo sapiens

Full name:

ERCC excision repair 1, endonuclease non-catalytic subunit

Synonyms:

COFS4, RAD10, UV20, DNA excision repair protein ERCC-1, excision repair cross-complementation group 1, excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

Genomic Location:

Chr 19: 50604712-50619017

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Danio rerio ,  Schizosaccharomyces pombe ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  ETS_Q4 ,  MGGAAGTG_GABP_B ,  WCTCNATGGY_UNKNOWN ,  SCGGAAGY_ELK1_02 ,  NRF2_01

Cytogenetic Map:

19q13.32

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