ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

2001-09-01 Anne Stary , Alain Sarasin Affiliation

Laboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France

Identity

HGNC

ERCC6

LOCATION

10q11.23

IMAGE

LEGEND

ERCC6 (10q11-10q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

LOCUSID

2074

ALIAS

ARMD5,CKN2,COFS,COFS1,CSB,CSB-PGBD3,POF11,RAD26,UVSS1

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000225830	ENST00000355832	Q03468
ENSG00000225830	ENST00000447839	P0DP91
ENSG00000225830	ENST00000462247	D6R9X7
ENSG00000225830	ENST00000515869	P0DP91
ENSG00000225830	ENST00000624341	A0A096LNQ7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Nucleotide excision repair	KEGG	ko03420
Nucleotide excision repair	KEGG	hsa03420
Gene Expression	REACTOME	R-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	REACTOME	R-HSA-504046
RNA Polymerase I Transcription	REACTOME	R-HSA-73864
RNA Polymerase I Promoter Clearance	REACTOME	R-HSA-73854
RNA Polymerase I Transcription Initiation	REACTOME	R-HSA-73762
Epigenetic regulation of gene expression	REACTOME	R-HSA-212165
DNA Repair	REACTOME	R-HSA-73894
Nucleotide Excision Repair	REACTOME	R-HSA-5696398
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	REACTOME	R-HSA-6781827
Formation of TC-NER Pre-Incision Complex	REACTOME	R-HSA-6781823
Dual incision in TC-NER	REACTOME	R-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NER	REACTOME	R-HSA-6782210
Positive epigenetic regulation of rRNA expression	REACTOME	R-HSA-5250913
B-WICH complex positively regulates rRNA expression	REACTOME	R-HSA-5250924
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	REACTOME	R-HSA-427389

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/img/cancer-prone-explorer/gene-explorer/