ERCC4 (xeroderma pigmentosum, complementation group F)
2001-05-01 Anne Stary , Alain Sarasin AffiliationLaboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France
Identity
HGNC
LOCATION
16p13.12
IMAGE
LEGEND
XPF (16p13) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
ERCC11,FANCQ,RAD1,XFEPS,XPF
FUSION GENES
DNA/RNA
Description
28.2 kb
Transcription
2881 bp =D0 11 exons
Proteins
Description
Homology
Substantial homology with the eucaryotic DNA repair and recombination proteins MEI-9 (Drosophila melanogaster), Rad16 (Saccharomyces cerevisae) and Rad1 (Schizosaccharomyces pombe).
Mutations
Germinal
9 point mutations ; 3 small deletions ; 1 small insertion ; 1 gross deletion
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 7697716 | 1995 | Mammalian DNA nucleotide excision repair reconstituted with purified protein components. | Aboussekhra A et al |
| 10673506 | 2000 | Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK. | Araújo SJ et al |
| 9013642 | 1997 | Reconstitution of human excision nuclease with recombinant XPF-ERCC1 complex. | Bessho T et al |
| 8253090 | 1993 | Co-correction of the ERCC1, ERCC4 and xeroderma pigmentosum group F DNA repair defects in vitro. | Biggerstaff M et al |
| 9447231 | 1997 | Excision-repair patch lengths are similar for transcription-coupled repair and global genome repair in UV-irradiated human cells. | Bowman KK et al |
| 8887684 | 1996 | ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. | Brookman KW et al |
| 11285194 | 2001 | Genetic polymorphisms in DNA repair genes and risk of lung cancer. | Butkiewicz D et al |
| 9351836 | 1997 | Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. | Evans E et al |
| 11160918 | 2001 | Activity of individual ERCC1 and XPF subunits in DNA nucleotide excision repair. | Gaillard PHL et al |
| 9653453 | 1998 | ERCC1 mutations in UV-sensitive Chinese hamster ovary (CHO) cell lines. | Hayashi T et al |
| 10320375 | 1999 | Action of DNA repair endonuclease ERCC1/XPF in living cells. | Houtsmuller AB et al |
| 2664729 | 1989 | Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F. | Kondo S et al |
| 8332082 | 1993 | Regional mapping of human DNA excision repair gene ERCC4 to chromosome 16p13.13-p13.2. | Liu P et al |
| 9580660 | 1998 | Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. | Matsumura Y et al |
| 8626644 | 1996 | Replication protein A confers structure-specific endonuclease activities to the XPF-ERCC1 and XPG subunits of human DNA repair excision nuclease. | Matsunaga T et al |
| 10413517 | 1999 | Domain mapping of the DNA binding, endonuclease, and ERCC1 binding properties of the human DNA repair protein XPF. | McCutchen-Maloney SL et al |
| 8427828 | 1993 | A case of xeroderma pigmentosum complementation group F with neurological abnormalities. | Moriwaki S et al |
| 8626523 | 1996 | Reaction mechanism of human DNA repair excision nuclease. | Mu D et al |
| 8613681 | 1996 | ERCC1/ERCC4 5'-endonuclease activity as a determinant of hypoxic cell radiosensitivity. | Murray D et al |
| 1814424 | 1991 | Xeroderma pigmentosum patients belonging to complementation group F and efficient liquid-holding recovery of ultraviolet damage. | Nishigori C et al |
| 10669734 | 2000 | Terminally differentiated human neurons repair transcribed genes but display attenuated global DNA repair and modulation of repair gene expression. | Nouspikel T et al |
| 7559382 | 1995 | Purification and characterization of the XPF-ERCC1 complex of human DNA repair excision nuclease. | Park CH et al |
| 8197175 | 1994 | Formation of a ternary complex by human XPA, ERCC1, and ERCC4(XPF) excision repair proteins. | Park CH et al |
| 2929593 | 1989 | Human chromosome 15 confers partial complementation of phenotypes to xeroderma pigmentosum group F cells. | Saxon PJ et al |
| 9579555 | 1998 | Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. | Sijbers AM et al |
| 8041709 | 1994 | Molecular cloning of the human nucleotide-excision-repair gene ERCC4. | Thompson LH et al |
| 9188507 | 1997 | The non-catalytic function of XPG protein during dual incision in human nucleotide excision repair. | Wakasugi M et al |
| 9197240 | 1997 | Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence. | Weeda G et al |
| 11141066 | 2001 | Novel functional interactions between nucleotide excision DNA repair proteins influencing the enzymatic activities of TFIIH, XPG, and ERCC1-XPF. | Winkler GS et al |
| 10214908 | 1999 | DNA damage recognition during nucleotide excision repair in mammalian cells. | Wood RD et al |
| 9862190 | 1998 | Sensitivity of group F xeroderma pigmentosum cells to UV and mitomycin C relative to levels of XPF and ERCC1 overexpression. | Yagi T et al |
| 9472693 | 1998 | Complete restoration of normal DNA repair characteristics in group F xeroderma pigmentosum cells by over-expression of transfected XPF cDNA. | Yagi T et al |
| 2039995 | 1991 | Analysis of point mutations in an ultraviolet-irradiated shuttle vector plasmid propagated in cells from Japanese xeroderma pigmentosum patients in complementation groups A and F. | Yagi T et al |
| 9025096 | 1997 | A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells. | Yagi T et al |
| 6321052 | 1984 | Xeroderma pigmentosum fibroblasts are more sensitive to asbestos fibers than are normal human fibroblasts. | Yang LL et al |
| 9525876 | 1998 | DNA structural elements required for ERCC1-XPF endonuclease activity. | de Laat WL et al |
| 7596355 | 1995 | Partial characterization of the DNA repair protein complex, containing the ERCC1, ERCC4, ERCC11 and XPF correcting activities. | van Vuuren AJ et al |
Other Information
Locus ID:
NCBI: 2072
MIM: 133520
HGNC: 3436
Ensembl: ENSG00000175595
Variants:
dbSNP: 2072
ClinVar: 2072
TCGA: ENSG00000175595
COSMIC: ERCC4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164713176 | Platinum compounds | Chemical | ClinicalAnnotation | associated | PD | 25069034 | |
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | 25069034 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36070459 | 2023 | Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility. | 1 |
| 36070459 | 2023 | Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility. | 1 |
| 34633654 | 2022 | F-circEA1 regulates cell proliferation and apoptosis through ALK downstream signaling pathway in non-small cell lung cancer. | 4 |
| 34837148 | 2022 | The link of ERCC2 rs13181 and ERCC4 rs2276466 polymorphisms with breast cancer in the Bangladeshi population. | 5 |
| 35780063 | 2022 | Association of nonsynonymous SNPs of nucleotide excision repair genes ERCC4 rs1800067 (G/A) and ERCC5 rs17655 (G/C) as predisposing risk factors for gallbladder cancer. | 0 |
| 34633654 | 2022 | F-circEA1 regulates cell proliferation and apoptosis through ALK downstream signaling pathway in non-small cell lung cancer. | 4 |
| 34837148 | 2022 | The link of ERCC2 rs13181 and ERCC4 rs2276466 polymorphisms with breast cancer in the Bangladeshi population. | 5 |
| 35780063 | 2022 | Association of nonsynonymous SNPs of nucleotide excision repair genes ERCC4 rs1800067 (G/A) and ERCC5 rs17655 (G/C) as predisposing risk factors for gallbladder cancer. | 0 |
| 33202356 | 2021 | DNA base excision repair and nucleotide excision repair proteins in malignant salivary gland tumors. | 4 |
| 33347546 | 2021 | SLX4-XPF mediates DNA damage responses to replication stress induced by DNA-protein interactions. | 8 |
| 33827099 | 2021 | Contribution of XPD and XPF Polymorphisms to Susceptibility of Non-Small Cell Lung Cancer in High-Altitude Areas. | 0 |
| 33931939 | 2021 | The ZEB2-dependent EMT transcriptional programme drives therapy resistance by activating nucleotide excision repair genes ERCC1 and ERCC4 in colorectal cancer. | 13 |
| 34416547 | 2021 | XPF -673C>T variation is associated with the susceptibility to breast cancer. | 0 |
| 33202356 | 2021 | DNA base excision repair and nucleotide excision repair proteins in malignant salivary gland tumors. | 4 |
| 33347546 | 2021 | SLX4-XPF mediates DNA damage responses to replication stress induced by DNA-protein interactions. | 8 |
Citation
Anne Stary ; Alain Sarasin
ERCC4 (xeroderma pigmentosum, complementation group F)
Atlas Genet Cytogenet Oncol Haematol. 2001-05-01
Online version: http://atlasgeneticsoncology.org/gene/299/ercc4-(xeroderma-pigmentosum-complementation-group-f)
