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
ERCC8
LOCATION
5q12.1
IMAGE
Atlas Image
LEGEND
CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
1161
ALIAS
CKN1,CSA,UVSS2
FUSION GENES
Show Gene Fusions

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

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
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

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/js/lib/jquery-3.5.1.min.js