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MGP000983

UniProt Annotations

Entry Information
Gene Nameexcision repair cross-complementation group 4
Protein EntryXPF_HUMAN
UniProt IDQ92889
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92889-1; Sequence=Displayed; Name=2; IsoId=Q92889-2; Sequence=VSP_056341, VSP_056342; Note=No experimental confirmation available.;
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420;
DiseaseFanconi anemia complementation group Q (FANCQ) [MIM:615272]: 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. {ECO:0000269|PubMed:23623386, ECO:0000269|PubMed:24027083}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseXeroderma pigmentosum complementation group F (XP-F) [MIM:278760]: 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. {ECO:0000269|PubMed:8797827, ECO:0000269|PubMed:9579555, ECO:0000269|PubMed:9580660}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseXeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseXFE progeroid syndrome (XFEPS) [MIM:610965]: 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. {ECO:0000269|PubMed:17183314}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link. {ECO:0000269|PubMed:19596235}.
InteractionQ8IY92:SLX4; NbExp=10; IntAct=EBI-2370770, EBI-2370740;
Sequence CautionSequence=AAB07689.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the XPF family. {ECO:0000305}.
SimilarityContains 1 ERCC4 domain. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000305}.
SubunitHeterodimer composed of ERCC1 and XPF/ERCC4. Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1- XPF/ERCC1 complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair. {ECO:0000269|PubMed:16076955, ECO:0000269|PubMed:16338413, ECO:0000269|PubMed:19595721, ECO:0000269|PubMed:19595722, ECO:0000269|PubMed:19596235, ECO:0000269|PubMed:19596236}.
Web ResourceName=Allelic variations of the XP genes; URL="http://www.xpmutations.org/";
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/XPFID299.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ercc4/";
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