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.

Article 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
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
382376472024Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality.0
384117282024A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.0
382376472024Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality.0
384117282024A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.0
362310522022A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.0
364545582022Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts.3
362310522022A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family.0
364545582022Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts.3
339044532021Clinical and Mutation Spectra of Cockayne Syndrome in India.2
342033262021Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding.9
344610592021Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.1
345818212021Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.5
339044532021Clinical and Mutation Spectra of Cockayne Syndrome in India.2
342033262021Cockayne Syndrome-Associated CSA and CSB Mutations Impair Ribosome Biogenesis, Ribosomal Protein Stability, and Global Protein Folding.9
344610592021Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran.1

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