ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)

2001-09-01   Anne Stary , Alain Sarasin 

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

Identity

HGNC
LOCATION
5q12.1
IMAGE
Atlas Image
LEGEND
CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
CKN1,CSA,UVSS2
FUSION GENES

DNA/RNA

Transcription

2011 b

Proteins

Description

396 amino acids - 44 kDa

Function

The Cockayne syndrome group A (CSA) gene encodes a WD repeat protein that interacts with the Cockayne syndrome group B ( CSB) protein and a subunit of RNA polymerase II transcription factor TFIIH suggesting that the products of CSA and CSB genes are involved in transcription. The CSA defect leads to defective strand specific repair of transcriptionally active genes.

Mutations

Germinal

one base substitution

Implicated in

Entity name
Cockayne syndrome, CS group A
Disease
The Cockayne syndrome A is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness.

Bibliography

Pubmed IDLast YearTitleAuthors
88761791996UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells.Bregman DB et al
75349231994Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.Cleaver JE et al
108510712000Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation.Conforti G et al
92784841997Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.Dianov GL et al
108395262000DNA repair. The bases for Cockayne syndrome.Hanawalt PC et al
76643351995The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.Henning KA et al
85965351996Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A.Itoh T et al
113103972000Cockayne syndrome.Khan GQ et al
115169292001Ultraviolet radiation alters the phosphorylation of RNA polymerase II large subunit and accelerates its proteasome-dependent degradation.Luo Z et al
93385861997Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.McDaniel LD et al
111825412001UV 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
89725301996Cockayne syndrome: review of 25 cases.Ozdirim E et al
93078431997Human cancer and DNA repair-deficient diseases.Sarasin A et al
88342351996Genetic analysis of twenty-two patients with Cockayne syndrome.Stefanini M et al
96856181998The transcription-repair coupling factor CSA is required for efficient repair only during the elongation stages of RNA polymerase II transcription.Tu Y et al
87548441996The 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

Other Information

Locus ID:

NCBI: 1161
MIM: 609412
HGNC: 3439
Ensembl: ENSG00000049167

Variants:

dbSNP: 1161
ClinVar: 1161
TCGA: ENSG00000049167
COSMIC: ERCC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049167ENST00000265038Q13216
ENSG00000049167ENST00000381118G3XAG7
ENSG00000049167ENST00000439176C9JNT2
ENSG00000049167ENST00000643034G3XAG7
ENSG00000049167ENST00000643708A0A2R8YD24
ENSG00000049167ENST00000647431A0A2R8YEZ3
ENSG00000049167ENST00000647486A0A2R8Y5I1

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Nucleotide excision repairKEGGko03420
Ubiquitin mediated proteolysisKEGGko04120
Nucleotide excision repairKEGGhsa03420
Ubiquitin mediated proteolysisKEGGhsa04120
Cul4-DDB1-CSA complexKEGGhsa_M00386
Cul4-DDB1-CSA complexKEGGM00386
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
Formation of TC-NER Pre-Incision ComplexREACTOMER-HSA-6781823
Dual incision in TC-NERREACTOMER-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210

References

Pubmed IDYearTitleCitations
127321432003The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.265
169166362006Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo.170
162467222005Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome.86
167511802006CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome.84
179967032007Damage-induced ubiquitylation of human RNA polymerase II by the ubiquitin ligase Nedd4, but not Cockayne syndrome proteins or BRCA1.83
198942502010Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.71
201008722010Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging.50
172974712007The role of CSA in the response to oxidative DNA damage in human cells.46
117825472002Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair.30
215503412011Detecting UV-lesions in the genome: The modular CRL4 ubiquitin ligase does it best!23

Citation

Anne Stary ; Alain Sarasin

ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)

Atlas Genet Cytogenet Oncol Haematol. 2001-09-01

Online version: http://atlasgeneticsoncology.org/gene/301/ercc8