ID:XPF_HUMAN DESCRIPTION: RecName: Full=DNA repair endonuclease XPF; EC=3.1.-.-; AltName: Full=DNA excision repair protein ERCC-4; AltName: Full=DNA repair protein complementing XP-F cells; AltName: Full=Xeroderma pigmentosum group F-complementing protein; FUNCTION: 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. COFACTOR: Magnesium. SUBUNIT: Heterodimer composed of ERCC1 and XPF/ERCC4. Interacts with EME1. 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. INTERACTION: Q8IY92:SLX4; NbExp=10; IntAct=EBI-2370770, EBI-2370740; SUBCELLULAR LOCATION: Nucleus (Probable). DISEASE: Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]; also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities. DISEASE: Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS) [MIM:610965]. This syndrome is illustrated by one patient who presented with dwarfism, cachexia and microcephaly. SIMILARITY: Belongs to the XPF family. SIMILARITY: Contains 1 ERCC4 domain. SEQUENCE CAUTION: Sequence=AAB07689.1; Type=Erroneous initiation; WEB RESOURCE: Name=Allelic variations of the XP genes; URL="http://www.xpmutations.org/"; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/XPFID299.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ERCC4"; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ercc4/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q92889
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC142631 - Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4, mRNA (cDNA clone IMAGE:40147704), complete cds. AK289726 - Homo sapiens cDNA FLJ75244 complete cds, highly similar to Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA. BC160102 - Synthetic construct Homo sapiens clone IMAGE:100064134, MGC:193217 excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4) mRNA, encodes complete protein. LT827132 - Homo sapiens mRNA for DNA repair endonuclease XPF (ERCC4 gene), splice variante 003. BC113107 - Homo sapiens cDNA clone IMAGE:40079012. LT827130 - Homo sapiens mRNA for DNA repair endonuclease XPF (ERCC4 gene). LP895319 - Sequence 183 from Patent EP3253886. U64315 - Human DNA repair endonuclease subunit (XPF) mRNA, complete cds. BC020741 - Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4, mRNA (cDNA clone IMAGE:4732192), partial cds. AK308341 - Homo sapiens cDNA, FLJ98289. LT827133 - Homo sapiens mRNA for DNA repair endonuclease XPF (ERCC4 gene), splice variante 202. LT827131 - Homo sapiens mRNA for DNA repair endonuclease XPF (ERCC4 gene), splice variante 201. AK301930 - Homo sapiens cDNA FLJ51369 complete cds, highly similar to DNA repair endonuclease XPF (EC 3.1.-.-). JD197572 - Sequence 178596 from Patent EP1572962. JD552105 - Sequence 533129 from Patent EP1572962. JD494338 - Sequence 475362 from Patent EP1572962. JD168024 - Sequence 149048 from Patent EP1572962. JD193292 - Sequence 174316 from Patent EP1572962. JD491445 - Sequence 472469 from Patent EP1572962. JD048396 - Sequence 29420 from Patent EP1572962. JD087302 - Sequence 68326 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q92889 (Reactome details) participates in the following event(s):
R-HSA-109955 Formation of ERCC1:XPF heterodimeric complex R-HSA-5690991 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in GG-NER R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER R-HSA-6785732 DNA nucleases bind monoubiquitinated ID2 complex R-HSA-5690988 3'-incision of DNA by ERCC5 (XPG) in GG-NER R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER R-HSA-5690213 DNA polymerases delta, epsilon or kappa bind the GG-NER site R-HSA-5690990 5'- incision of DNA by ERCC1:ERCC4 in GG-NER R-HSA-6782204 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site R-HSA-5686657 ERCC1:XPF cleaves flaps generated by SSA R-HSA-5696395 Formation of Incision Complex in GG-NER R-HSA-6782135 Dual incision in TC-NER R-HSA-6783310 Fanconi Anemia Pathway R-HSA-5696400 Dual Incision in GG-NER R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-73894 DNA Repair R-HSA-5685938 HDR through Single Strand Annealing (SSA) R-HSA-5696398 Nucleotide Excision Repair R-HSA-5693567 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) R-HSA-5693538 Homology Directed Repair R-HSA-5693532 DNA Double-Strand Break Repair
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
