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.
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.
Ubiquitinated with both 'Lys-48' and 'Lys-63' linkages (PubMed:25538220). Deubiquitinated by USP45 (PubMed:25538220).
Belongs to the ERCC1/RAD10/SWI10 family.
DNA excision repair protein ERCC-1, ERCC1
Proteins
Oncology
32562Da
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ab196869
ab126690