ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)
2001-09-01 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
10q11.23
IMAGE
LEGEND
ERCC6 (10q11-10q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
ARMD5,CKN2,COFS,COFS1,CSB,CSB-PGBD3,POF11,RAD26,UVSS1
FUSION GENES
DNA/RNA
Transcription
4714 b
Proteins
Description
1493 amino acids ; 168415 Da
Function
The Cockayne syndrome B (CSB) gene encodes for a DNA-dependent ATPase which is involved in the preferential repair of active genes. The CSB gene product is recruited to RNA polymerase II complexes and enhances elongation on an undamaged template by a factor of about three.
Mutations
Germinal
13 base substitutions ; 4 small deletions ; 3 small insertions ; 2 gross rearrangements
Implicated in
Entity name
Cockayne syndrome, CS group B
Disease
The Cockayne syndrome B is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10698517 | 2000 | Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis. | Balajee AS et al |
| 8876179 | 1996 | UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. | Bregman DB et al |
| 10564257 | 1999 | The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair. | Brosh RM Jr et al |
| 7767957 | 1995 | Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes. | Carreau M et al |
| 11003660 | 2000 | ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor. | Citterio E et al |
| 7534923 | 1994 | Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome. | Cleaver JE et al |
| 10196384 | 1999 | Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. | Colella S et al |
| 10851071 | 2000 | Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation. | Conforti G et al |
| 9973627 | 1999 | Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells. | Dianov G et al |
| 9278484 | 1997 | Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells. | Dianov GL et al |
| 10843671 | 2000 | Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression. | Garssen J et al |
| 11452033 | 2001 | Deletion of the CSB homolog, RAD26, yields Spt(-) strains with proficient transcription-coupled repair. | Gregory SM et al |
| 10839526 | 2000 | DNA repair. The bases for Cockayne syndrome. | Hanawalt PC et al |
| 11320148 | 2001 | Analysis of repair and PCNA complex formation induced by ionizing radiation in human fibroblast cell lines. | Karmakar P et al |
| 10214919 | 1999 | Repair and mutagenesis survey of 8-hydroxyguanine in bacteria and human cells. | Le Page F et al |
| 10786832 | 2000 | Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. | Le Page F et al |
| 11238917 | 2001 | Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice. | Lu Y et al |
| 11516929 | 2001 | Ultraviolet radiation alters the phosphorylation of RNA polymerase II large subunit and accelerates its proteasome-dependent degradation. | Luo Z et al |
| 9443879 | 1998 | Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. | Mallery DL et al |
| 11182541 | 2001 | UV light-induced degradation of RNA polymerase II is dependent on the Cockayne's syndrome A and B proteins but not p53 or MLH1. | McKay BC et al |
| 8811084 | 1996 | The human CSB (ERCC6) gene corrects the transcription-coupled repair defect in the CHO cell mutant UV61. | Orren DK et al |
| 8972530 | 1996 | Cockayne syndrome: review of 25 cases. | Ozdirim E et al |
| 10332046 | 1999 | The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. | Riou L et al |
| 10973477 | 2000 | UV-induced inhibition of transcription involves repression of transcription initiation and phosphorylation of RNA polymerase II. | Rockx DA et al |
| 9307843 | 1997 | Human cancer and DNA repair-deficient diseases. | Sarasin A et al |
| 9326587 | 1997 | Cockayne syndrome group B protein enhances elongation by RNA polymerase II. | Selby CP et al |
| 8834235 | 1996 | Genetic analysis of twenty-two patients with Cockayne syndrome. | Stefanini M et al |
| 10931931 | 2000 | Molecular characterization of an acidic region deletion mutant of Cockayne syndrome group B protein. | Sunesen M et al |
| 9864391 | 1999 | Enhancement of XPG mRNA transcription by human interferon-beta in Cockayne syndrome cells with complementation group B. | Suzuki Y et al |
| 9774388 | 1998 | RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62. | Tantin D et al |
| 9372911 | 1997 | Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes. | Tantin D et al |
| 8382798 | 1993 | Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B. | Troelstra C et al |
| 2352945 | 1990 | The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA. | Venema J et al |
| 11059760 | 2000 | The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice. | Wijnhoven SW et al |
| 10882116 | 2000 | Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes. | Yu A et al |
| 9312053 | 1997 | The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex. | van Gool AJ et al |
| 11005836 | 2000 | Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis. | van Oosten M et al |
| 8754844 | 1996 | The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes. | van Oosterwijk MF et al |
| 9150142 | 1997 | Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. | van der Horst GT et al |
Other Information
Locus ID:
NCBI: 2074
MIM: 609413
HGNC: 3438
Ensembl: ENSG00000225830
Variants:
dbSNP: 2074
ClinVar: 2074
TCGA: ENSG00000225830
COSMIC: ERCC6
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38152055 | 2024 | CircMAP3K4 Suppresses H2O2-Induced Human Lens Epithelial Cell Injury by miR-630/ERCC6 Axis in Age-Related Cataract. | 0 |
| 38416570 | 2024 | CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells. | 0 |
| 38152055 | 2024 | CircMAP3K4 Suppresses H2O2-Induced Human Lens Epithelial Cell Injury by miR-630/ERCC6 Axis in Age-Related Cataract. | 0 |
| 38416570 | 2024 | CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells. | 0 |
| 36802454 | 2023 | ERCC6 plays a promoting role in the progression of non-small cell lung cancer. | 0 |
| 37326017 | 2023 | The CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions. | 3 |
| 36802454 | 2023 | ERCC6 plays a promoting role in the progression of non-small cell lung cancer. | 0 |
| 37326017 | 2023 | The CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions. | 3 |
| 35463969 | 2022 | Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis. | 0 |
| 35975393 | 2022 | A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency. | 1 |
| 35463969 | 2022 | Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis. | 0 |
| 35975393 | 2022 | A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency. | 1 |
| 33590097 | 2021 | Current and emerging roles of Cockayne syndrome group B (CSB) protein. | 21 |
| 33632032 | 2021 | Profiling and Integrated Analysis of the ERCC6-regulated circRNA-miRNA-mRNA Network in Lens Epithelial Cells. | 1 |
| 33637760 | 2021 | A CSB-PAF1C axis restores processive transcription elongation after DNA damage repair. | 23 |
Citation
Anne Stary ; Alain Sarasin
ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)
Atlas Genet Cytogenet Oncol Haematol. 2001-09-01
Online version: http://atlasgeneticsoncology.org/gene/302/ercc6
