ERCC1

Function

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.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

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

Sequence Similarities

Belongs to the ERCC1/RAD10/SWI10 family.

Cellular localization

• Isoform 1
• Nucleus
• Isoform 2
• Cytoplasm
• Nucleus
• Isoform 3
• Nucleus
• Isoform 4
• Nucleus

Alternative names

DNA excision repair protein ERCC-1, ERCC1

Database links

swissprot:P07992 omim:126380 entrezGene:2067

Other research areas

• Epigenetics