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

Identity

Other namesCSA (Cockayne syndrome A)
CKN1
ERCC8
HGNC ERCC8
Location 5
 
  CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it
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
HGNCERCC8   3439
Entrez_GeneERCC8  1161  excision repair cross-complementing rodent repair deficiency, complementation group 8
Cards
AtlasCSAID301
GeneCardsERCC8
EnsemblERCC8 [Search_View]   ENSG00000049167 [Gene_View]
GenatlasERCC8
GeneLynxERCC8
eGenomeERCC8
euGene1161
Genomic and cartography
GoldenPathERCC8  -  5   chr5:60205416-60276662 -  5q12.1   [Description]    (hg18-Mar_2006)
EnsemblERCC8 - 5q12.1 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneERCC8
Gene and transcription
GenbankAK056931 [ ENTREZ ]
GenbankAK226129 [ ENTREZ ]
GenbankAK290726 [ ENTREZ ]
GenbankAK314511 [ ENTREZ ]
GenbankAL691658 [ ENTREZ ]
RefSeqNM_000082 [ SRS ]    NM_000082 [ ENTREZ ]
RefSeqNM_001007233 [ SRS ]    NM_001007233 [ ENTREZ ]
RefSeqNM_001007234 [ SRS ]    NM_001007234 [ ENTREZ ]
RefSeqAC_000048 [ SRS ]    AC_000048 [ ENTREZ ]
RefSeqAC_000137 [ SRS ]    AC_000137 [ ENTREZ ]
RefSeqNC_000005 [ SRS ]    NC_000005 [ ENTREZ ]
RefSeqNT_006713 [ SRS ]    NT_006713 [ ENTREZ ]
RefSeqNW_001838934 [ SRS ]    NW_001838934 [ ENTREZ ]
RefSeqNW_922607 [ SRS ]    NW_922607 [ ENTREZ ]
AceViewERCC8 AceView - NCBI
UnigeneHs.435237 [ SRS ]    Hs.435237 [ NCBI ]     HS435237 [ spliceNest ]
Fast-db4577 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ13216 [ SRS]    Q13216 [ EXPASY ]     Q13216 [ INTERPRO ]     Q13216 [ UNIPROT ]
PrositePS00678 WD_REPEATS_1 [ SRS ]    PS00678 WD_REPEATS_1 [ Expasy ]
PrositePS50082 WD_REPEATS_2 [ SRS ]    PS50082 WD_REPEATS_2 [ Expasy ]
PrositePS50294 WD_REPEATS_REGION [ SRS ]    PS50294 WD_REPEATS_REGION [ Expasy ]
InterproIPR015943 WD40/YVTN_repeat-like [ SRS ]    IPR015943 WD40/YVTN_repeat-like [ EBI ]
InterproIPR001680 WD40_repeat [ SRS ]    IPR001680 WD40_repeat [ EBI ]
CluSTrQ13216
PfamPF00400 WD40 [ SRS ]    PF00400 WD40 [ Sanger ]    pfam00400 [ NCBI-CDD ]
SmartSM00320 WD40 [EMBL]
ProdomPD000018 WD40[INRA-Toulouse]
ProdomQ13216 ERCC8_HUMAN [ Domain structure ]   Q13216 ERCC8_HUMAN  [ sequences sharing at least 1 domain ]
BlocksQ13216
HPRD07523
Protein Interaction databases
DIPQ13216
IntActQ13216
Polymorphism : SNP, mutations, diseases
OMIM216400;609412    [ map ]   
GENECLINICS216400;609412
SNPERCC8 [dbSNP-NCBI]  
SNPNM_000082 [SNP-NCI]  
SNPNM_001007233 [SNP-NCI]  
SNPNM_001007234 [SNP-NCI]  
SNPERCC8 [GeneSNPs - Utah]  ERCC8] [HGBASE - SRS]
HAPMAPERCC8 [HAPMAP]  
COSMICERCC8 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDERCC8
General knowledge
Family BrowserERCC8 [UCSC Family Browser]
SOURCENM_000082
SOURCENM_001007233
SOURCENM_001007234
SMDHs.435237
SAGEHs.435237
GOnucleotide-excision repair complex [Amigo]  nucleotide-excision repair complex
GOprotein polyubiquitination [Amigo]  protein polyubiquitination
GODNA helicase activity [Amigo]  DNA helicase activity
GOubiquitin-protein ligase activity [Amigo]  ubiquitin-protein ligase activity
GOsoluble fraction [Amigo]  soluble fraction
GOnucleus [Amigo]  nucleus
GOnucleoplasm [Amigo]  nucleoplasm
GOtranscription-coupled nucleotide-excision repair [Amigo]  transcription-coupled nucleotide-excision repair
GOtranscription [Amigo]  transcription
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOresponse to DNA damage stimulus [Amigo]  response to DNA damage stimulus
GOresponse to oxidative stress [Amigo]  response to oxidative stress
GOresponse to oxidative stress [Amigo]  response to oxidative stress
GOsensory perception of sound [Amigo]  sensory perception of sound
GODNA-dependent ATPase activity [Amigo]  DNA-dependent ATPase activity
GOresponse to UV [Amigo]  response to UV
GOnuclear matrix [Amigo]  nuclear matrix
GOprotein complex binding [Amigo]  protein complex binding
GOprotein autoubiquitination [Amigo]  protein autoubiquitination
PubGeneERCC8
TreeFamERCC8
CTD1161 [Comparative ToxicoGenomics Database]
Other databases
Other databaseCockayne syndrome
Probes
ProbeCancer Cytogenetics (Bari)
ProbeERCC8 Related clones (RZPD - Berlin)
PubMed
PubMed22 Pubmed reference(s) in LocusLink

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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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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. September 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/CSAID301.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 11 21:13:08 2008


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