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

Identity

Other namesCSA (Cockayne syndrome A)
CKN1
ERCC8
HGNC (Hugo) ERCC8
LocusID (NCBI) 1161
Location 5q12.1
Location_base_pair Starts at 60169659 and ends at 60240905 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Note see also the paper on Nucleotide Excision Repair

DNA/RNA

Transcription 2011 b

Protein

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 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.
  

External links

Nomenclature
HGNC (Hugo)ERCC8   3439
Cards
AtlasCSAID301
Entrez_Gene (NCBI)ERCC8  1161  excision repair cross-complementation group 8
GeneCards (Weizmann)ERCC8
Ensembl (Hinxton)ENSG00000049167 [Gene_View]  chr5:60169659-60240905 [Contig_View]  ERCC8 [Vega]
ICGC DataPortalENSG00000049167
cBioPortalERCC8
AceView (NCBI)ERCC8
Genatlas (Paris)ERCC8
WikiGenes1161
SOURCE (Princeton)NM_000082 NM_001007233 NM_001007234 NM_001290285
Genomic and cartography
GoldenPath (UCSC)ERCC8  -  5q12.1   chr5:60169659-60240905 -  5q12.1   [Description]    (hg19-Feb_2009)
EnsemblERCC8 - 5q12.1 [CytoView]
Mapping of homologs : NCBIERCC8 [Mapview]
OMIM216400   609412   614621   
Gene and transcription
Genbank (Entrez)AK022657 AK056931 AK226129 AK290726 AK294856
RefSeq transcript (Entrez)NM_000082 NM_001007233 NM_001007234 NM_001290285
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_009289 NT_034772 NW_001838934 NW_004929322
Consensus coding sequences : CCDS (NCBI)ERCC8
Cluster EST : UnigeneHs.435237 [ NCBI ]
CGAP (NCI)Hs.435237
Alternative Splicing : Fast-db (Paris)GSHG0024817
Alternative Splicing GalleryENSG00000049167
Gene ExpressionERCC8 [ NCBI-GEO ]     ERCC8 [ SEEK ]   ERCC8 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13216 (Uniprot)
NextProtQ13216  [Medical]
With graphics : InterProQ13216
Splice isoforms : SwissVarQ13216 (Swissvar)
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep [organisation]   WD40/YVTN_repeat-like_dom [organisation]   WD40_repeat [organisation]   WD40_repeat_CS [organisation]   WD40_repeat_dom [organisation]  
Related proteins : CluSTrQ13216
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
DMDM Disease mutations1161
Blocks (Seattle)Q13216
PDB (SRS)4A11   
PDB (PDBSum)4A11   
PDB (IMB)4A11   
PDB (RSDB)4A11   
Human Protein AtlasENSG00000049167 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ13216
HPRD07523
IPIIPI00012284   IPI00386696   IPI01015409   IPI01011128   IPI00477416   
Protein Interaction databases
DIP (DOE-UCLA)Q13216
IntAct (EBI)Q13216
FunCoupENSG00000049167
BioGRIDERCC8
InParanoidQ13216
Interologous Interaction database Q13216
IntegromeDBERCC8
STRING (EMBL)ERCC8
Ontologies - Pathways
Ontology : AmiGOnucleotide-excision repair complex  protein polyubiquitination  DNA helicase activity  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair  cellular response to DNA damage stimulus  response to oxidative stress  response to oxidative stress  DNA-dependent ATPase activity  response to UV  response to UV  response to X-ray  nuclear matrix  Cul4A-RING E3 ubiquitin ligase complex  protein complex binding  proteasome-mediated ubiquitin-dependent protein catabolic process  protein complex  positive regulation of DNA repair  protein autoubiquitination  
Ontology : EGO-EBInucleotide-excision repair complex  protein polyubiquitination  DNA helicase activity  ubiquitin-protein transferase activity  protein binding  nucleus  nucleoplasm  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair  cellular response to DNA damage stimulus  response to oxidative stress  response to oxidative stress  DNA-dependent ATPase activity  response to UV  response to UV  response to X-ray  nuclear matrix  Cul4A-RING E3 ubiquitin ligase complex  protein complex binding  proteasome-mediated ubiquitin-dependent protein catabolic process  protein complex  positive regulation of DNA repair  protein autoubiquitination  
Pathways : KEGGNucleotide excision repair    Ubiquitin mediated proteolysis   
Protein Interaction DatabaseERCC8
Wikipedia pathwaysERCC8
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ERCC8
snp3D : Map Gene to Disease1161
SNP (GeneSNP Utah)ERCC8
SNP : HGBaseERCC8
Genetic variants : HAPMAPERCC8
Exome VariantERCC8
1000_GenomesERCC8 
ICGC programENSG00000049167 
Somatic Mutations in Cancer : COSMICERCC8 
CONAN: Copy Number AnalysisERCC8 
Mutations and Diseases : HGMDERCC8
Mutations and Diseases : intOGenERCC8
Genomic VariantsERCC8  ERCC8 [DGVbeta]
dbVarERCC8
ClinVarERCC8
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM216400    609412    614621   
MedgenERCC8
GENETestsERCC8
Disease Genetic AssociationERCC8
Huge Navigator ERCC8 [HugePedia]  ERCC8 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneERCC8
Homology/Alignments : Family Browser (UCSC)ERCC8
Phylogenetic Trees/Animal Genes : TreeFamERCC8
Chemical/Protein Interactions : CTD1161
Chemical/Pharm GKB GenePA27853
Clinical trialERCC8
Cancer Resource (Charite)ENSG00000049167
Other databases
Other databaseCockayne syndrome
Other databaseUMD-CSA (ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)). Curator: V.Laugel
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed50 Pubmed reference(s) in Entrez
CoreMineERCC8
iHOPERCC8
OncoSearchERCC8

Bibliography

Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.
Cleaver JE, Volpe JP, Charles WC, Thomas GH
Prenatal diagnosis. 1994 ; 14 (10) : 921-928.
PMID 7534923
 
The 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, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC
Cell. 1995 ; 82 (4) : 555-564.
PMID 7664335
 
UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells.
Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg EC, Warren SL
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (21) : 11586-11590.
PMID 8876179
 
Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A.
Itoh T, Shiomi T, Shiomi N, Harada Y, Wakasugi M, Matsunaga T, Nikaido O, Friedberg EC, Yamaizumi M
Mutation research. 1996 ; 362 (2) : 167-174.
PMID 8596535
 
Cockayne syndrome: review of 25 cases.
Ozdirim E, Topu M, Ozn A, Cila A
Pediatric neurology. 1996 ; 15 (4) : 312-316.
PMID 8972530
 
Genetic analysis of twenty-two patients with Cockayne syndrome.
Stefanini M, Fawcett H, Botta E, Nardo T, Lehmann AR
Human genetics. 1996 ; 97 (4) : 418-423.
PMID 8834235
 
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, Versteeg A, Filon R, van Zeeland AA, Mullenders LH
Molecular and cellular biology. 1996 ; 16 (8) : 4436-4444.
PMID 8754844
 
Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.
Dianov GL, Houle JF, Iyer N, Bohr VA, Friedberg EC
Nucleic acids research. 1997 ; 25 (18) : 3636-3642.
PMID 9278484
 
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.
McDaniel LD, Legerski R, Lehmann AR, Friedberg EC, Schultz RA
Human mutation. 1997 ; 10 (4) : 317-321.
PMID 9338586
 
Human cancer and DNA repair-deficient diseases.
Sarasin A, Stary A
Cancer detection and prevention. 1997 ; 21 (5) : 406-411.
PMID 9307843
 
The transcription-repair coupling factor CSA is required for efficient repair only during the elongation stages of RNA polymerase II transcription.
Tu Y, Bates S, Pfeifer GP
Mutation research. 1998 ; 400 (1-2) : 143-151.
PMID 9685618
 
Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation.
Conforti G, Nardo T, D'Incalci M, Stefanini M
Oncogene. 2000 ; 19 (22) : 2714-2720.
PMID 10851071
 
DNA repair. The bases for Cockayne syndrome.
Hanawalt PC
Nature. 2000 ; 405 (6785) : 415-416.
PMID 10839526
 
Cockayne syndrome.
Khan GQ, Hassan G, Yaseen M, Masood T, Hajini GH, Akhtar D, Qureshi T
The Journal of the Association of Physicians of India. 2000 ; 48 (11) : 1119-1121.
PMID 11310397
 
Ultraviolet radiation alters the phosphorylation of RNA polymerase II large subunit and accelerates its proteasome-dependent degradation.
Luo Z, Zheng J, Lu Y, Bregman DB
Mutation research. 2001 ; 486 (4) : 259-274.
PMID 11516929
 
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, Chen F, Clarke ST, Wiggin HE, Harley LM, Ljungman M
Mutation research. 2001 ; 485 (2) : 93-105.
PMID 11182541
 
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Contributor(s)

Written09-2001Anne Stary, Alain Sarasin

Citation

This paper should be referenced as such :
Stary, A ; Sarasin, A
ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):5-6.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/CSAID301.html

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indexed on : Tue Aug 26 15:26:04 CEST 2014

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