ERCC4
Function
Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair.
Involvement in disease
Xeroderma pigmentosum complementation group F
XP-F
An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype.
None
The disease is caused by variants affecting the gene represented in this entry.
XFE progeroid syndrome
XFEPS
A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Xeroderma pigmentosum type F/Cockayne syndrome
XPF/CS
A variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition.
None
The disease is caused by variants affecting the gene represented in this entry.
Fanconi anemia complementation group Q
FANCQ
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Acetylation at Lys-911 by KAT5 promotes interaction with ERCC1 by disrupting a salt bridge between Glu-907 and Lys-911, thereby exposing a second binding site for ERCC1 (PubMed:32034146). Deacetylated by SIRT1 (PubMed:32034146).
Sequence Similarities
Belongs to the XPF family.
Cellular localization
- Nucleus
- Chromosome
- Localizes to sites of DNA damage.
Alternative names
ERCC11, XPF, ERCC4, DNA repair endonuclease XPF, DNA excision repair protein ERCC-4, DNA repair protein complementing XP-F cells, Xeroderma pigmentosum group F-complementing protein
Database links
swissprot:Q92889 omim:278760 entrezGene:2072
Other research areas
- Epigenetics