Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

Identity

Other namesCSB (Cockayne syndrome B)
CKN2
HGNC (Hugo) ERCC6
LocusID (NCBI) 2074
Location 10q11.23
Location_base_pair Starts at 50662526 and ends at 50747169 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  ERCC6 (10q11-10q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Note see also the paper on Nucleotide Excision Repair

DNA/RNA

Transcription 4714 b

Protein

Description 1493 amino acids ; 168415 Da
Function The Cockayne syndrome B (CSB) gene encodes for a DNA-dependent ATPase which is involved in the preferential repair of active genes. The CSB gene product is recruited to RNA polymerase II complexes and enhances elongation on an undamaged template by a factor of about three.

Mutations

Germinal 13 base substitutions ; 4 small deletions ; 3 small insertions ; 2 gross rearrangements

Implicated in

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

External links

Nomenclature
HGNC (Hugo)ERCC6   3438
Cards
AtlasCSBID302
Entrez_Gene (NCBI)ERCC6  2074  excision repair cross-complementing rodent repair deficiency, complementation group 6
GeneCards (Weizmann)ERCC6
Ensembl (Hinxton)ENSG00000225830 [Gene_View]  chr10:50662526-50747169 [Contig_View]  ERCC6 [Vega]
AceView (NCBI)ERCC6
Genatlas (Paris)ERCC6
WikiGenes2074
SOURCE (Princeton)NM_000124
Genomic and cartography
GoldenPath (UCSC)ERCC6  -  10q11.23   chr10:50662526-50747169 -  10q11   [Description]    (hg19-Feb_2009)
EnsemblERCC6 - 10q11 [CytoView]
Mapping of homologs : NCBIERCC6 [Mapview]
OMIM133540   211980   214150   278800   600630   609413   613761   
Gene and transcription
Genbank (Entrez)AB209504 AK094670 AK130100 AK303022 BC127104
RefSeq transcript (Entrez)NM_000124
RefSeq genomic (Entrez)AC_000142 NC_000010 NC_018921 NG_009442 NT_030059 NW_001837975 NW_004929376
Consensus coding sequences : CCDS (NCBI)ERCC6
Cluster EST : UnigeneHs.49063 [ NCBI ]
CGAP (NCI)Hs.49063
Alternative Splicing : Fast-db (Paris)GSHG0004067
Alternative Splicing GalleryENSG00000225830
Gene ExpressionERCC6 [ NCBI-GEO ]     ERCC6 [ SEEK ]   ERCC6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03468 (Uniprot)
NextProtQ03468  [Medical]
With graphics : InterProQ03468
Splice isoforms : SwissVarQ03468 (Swissvar)
Catalytic activity : Enzyme3.6.4.- [ Enzyme-Expasy ]   3.6.4.-3.6.4.- [ IntEnz-EBI ]   3.6.4.- [ BRENDA ]   3.6.4.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)Helicase_ATP-bd    Helicase_C    P-loop_NTPase    SNF2_N   
Related proteins : CluSTrQ03468
Domain families : Pfam (Sanger)Helicase_C (PF00271)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam00271    pfam00176   
Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
DMDM Disease mutations2074
Blocks (Seattle)Q03468
Human Protein AtlasENSG00000225830
Peptide AtlasQ03468
HPRD00596
IPIIPI00414779   IPI01012116   IPI01012579   IPI00555651   IPI00941474   
Protein Interaction databases
DIP (DOE-UCLA)Q03468
IntAct (EBI)Q03468
FunCoupENSG00000225830
BioGRIDERCC6
InParanoidQ03468
Interologous Interaction database Q03468
IntegromeDBERCC6
STRING (EMBL)ERCC6
Ontologies - Pathways
Ontology : AmiGOresponse to superoxide  DNA binding  DNA helicase activity  chromatin binding  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  base-excision repair  nucleotide-excision repair  pyrimidine dimer repair  transcription from RNA polymerase II promoter  response to oxidative stress  activation of JNKK activity  activation of JUN kinase activity  protein C-terminus binding  transcription elongation factor complex  DNA-dependent ATPase activity  intrinsic apoptotic signaling pathway in response to DNA damage  response to UV  response to toxic substance  response to X-ray  response to UV-B  response to gamma radiation  protein complex binding  regulation of DNA-dependent transcription, elongation  positive regulation of DNA-dependent transcription, elongation  multicellular organism growth  photoreceptor cell maintenance  protein N-terminus binding  
Ontology : EGO-EBIresponse to superoxide  DNA binding  DNA helicase activity  chromatin binding  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  nucleolus  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  base-excision repair  nucleotide-excision repair  pyrimidine dimer repair  transcription from RNA polymerase II promoter  response to oxidative stress  activation of JNKK activity  activation of JUN kinase activity  protein C-terminus binding  transcription elongation factor complex  DNA-dependent ATPase activity  intrinsic apoptotic signaling pathway in response to DNA damage  response to UV  response to toxic substance  response to X-ray  response to UV-B  response to gamma radiation  protein complex binding  regulation of DNA-dependent transcription, elongation  positive regulation of DNA-dependent transcription, elongation  multicellular organism growth  photoreceptor cell maintenance  protein N-terminus binding  
Pathways : KEGGNucleotide excision repair   
REACTOMEERCC6
Protein Interaction DatabaseERCC6
Wikipedia pathwaysERCC6
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ERCC6
SNP (GeneSNP Utah)ERCC6
SNP : HGBaseERCC6
Genetic variants : HAPMAPERCC6
1000_GenomesERCC6 
ICGC programENSG00000225830 
Somatic Mutations in Cancer : COSMICERCC6 
CONAN: Copy Number AnalysisERCC6 
Mutations and Diseases : HGMDERCC6
OMIM133540    211980    214150    278800    600630    609413    613761   
GENETestsERCC6
Disease Genetic AssociationERCC6
Huge Navigator ERCC6 [HugePedia]  ERCC6 [HugeCancerGEM]
Genomic VariantsERCC6  ERCC6 [DGVbeta]
Exome VariantERCC6
dbVarERCC6
ClinVarERCC6
snp3D : Map Gene to Disease2074
General knowledge
Homologs : HomoloGeneERCC6
Homology/Alignments : Family Browser (UCSC)ERCC6
Phylogenetic Trees/Animal Genes : TreeFamERCC6
Chemical/Protein Interactions : CTD2074
Chemical/Pharm GKB GenePA27852
Clinical trialERCC6
Cancer Resource (Charite)ENSG00000225830
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed148 Pubmed reference(s) in Entrez
CoreMineERCC6
iHOPERCC6

Bibliography

The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.
Venema J, Mullenders LH, Natarajan AT, van Zeeland AA, Mayne LV
Proceedings of the National Academy of Sciences of the United States of America. 1990 ; 87 (12) : 4707-4711.
PMID 2352945
 
ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes.
Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH
Cell. 1992 ; 71 (6) : 939-953.
PMID 1339317
 
Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B.
Troelstra C, Hesen W, Bootsma D, Hoeijmakers JH
Nucleic acids research. 1993 ; 21 (3) : 419-426.
PMID 8382798
 
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
 
RAD26, the functional S. cerevisiae homolog of the Cockayne syndrome B gene ERCC6.
van Gool AJ, Verhage R, Swagemakers SM, van de Putte P, Brouwer J, Troelstra C, Bootsma D, Hoeijmakers JH
The EMBO journal. 1994 ; 13 (22) : 5361-5369.
PMID 7957102
 
Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes.
Carreau M, Eveno E, Quilliet X, Chevalier-Lagente O, Benoit A, Tanganelli B, Stefanini M, Vermeulen W, Hoeijmakers JH, Sarasin A
Carcinogenesis. 1995 ; 16 (5) : 1003-1009.
PMID 7767957
 
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
 
The human CSB (ERCC6) gene corrects the transcription-coupled repair defect in the CHO cell mutant UV61.
Orren DK, Dianov GL, Bohr VA
Nucleic acids research. 1996 ; 24 (17) : 3317-3322.
PMID 8811084
 
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 intact and permeabilized Cockayne syndrome group B cells.
Balajee AS, May A, Dianov GL, Friedberg EC, Bohr VA
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (9) : 4306-4311.
PMID 9113985
 
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
 
Human cancer and DNA repair-deficient diseases.
Sarasin A, Stary A
Cancer detection and prevention. 1997 ; 21 (5) : 406-411.
PMID 9307843
 
Cockayne syndrome group B protein enhances elongation by RNA polymerase II.
Selby CP, Sancar A
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (21) : 11205-11209.
PMID 9326587
 
Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes.
Tantin D, Kansal A, Carey M
Molecular and cellular biology. 1997 ; 17 (12) : 6803-6814.
PMID 9372911
 
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition.
van der Horst GT, van Steeg H, Berg RJ, van Gool AJ, de Wit J, Weeda G, Morreau H, Beems RB, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH
Cell. 1997 ; 89 (3) : 425-435.
PMID 9150142
 
The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex.
van Gool AJ, Citterio E, Rademakers S, van Os R, Vermeulen W, Constantinou A, Egly JM, Bootsma D, Hoeijmakers JH
The EMBO journal. 1997 ; 16 (19) : 5955-5965.
PMID 9312053
 
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR
American journal of human genetics. 1998 ; 62 (1) : 77-85.
PMID 9443879
 
RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62.
Tantin D
The Journal of biological chemistry. 1998 ; 273 (43) : 27794-27799.
PMID 9774388
 
Oxidative damage-induced PCNA complex formation is efficient in xeroderma pigmentosum group A but reduced in Cockayne syndrome group B cells.
Balajee AS, Dianova I, Bohr VA
Nucleic acids research. 1999 ; 27 (22) : 4476-4482.
PMID 10536158
 
The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repair.
Brosh RM Jr, Balajee AS, Selzer RR, Sunesen M, Proietti De Santis L, Bohr VA
Molecular biology of the cell. 1999 ; 10 (11) : 3583-3594.
PMID 10564257
 
Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity.
Colella S, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M
Human molecular genetics. 1999 ; 8 (5) : 935-941.
PMID 10196384
 
Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells.
Dianov G, Bischoff C, Sunesen M, Bohr VA
Nucleic acids research. 1999 ; 27 (5) : 1365-1368.
PMID 9973627
 
Repair and mutagenesis survey of 8-hydroxyguanine in bacteria and human cells.
Le Page F, Gentil A, Sarasin A
Biochimie. 1999 ; 81 (1-2) : 147-153.
PMID 10214919
 
The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
Riou L, Zeng L, Chevallier-Lagente O, Stary A, Nikaido O, Taeb A, Weeda G, Mezzina M, Sarasin A
Human molecular genetics. 1999 ; 8 (6) : 1125-1133.
PMID 10332046
 
Enhancement of XPG mRNA transcription by human interferon-beta in Cockayne syndrome cells with complementation group B.
Suzuki Y, Sugita K, Suzuki N, Kita K, Higuchi Y, Yamaura A, Kohno Y
International journal of molecular medicine. 1999 ; 3 (1) : 87-89.
PMID 9864391
 
Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis.
Balajee AS, Proietti De Santis L, Brosh RM Jr, Selzer R, Bohr VA
Oncogene. 2000 ; 19 (4) : 477-489.
PMID 10698517
 
ATP-dependent chromatin remodeling by the Cockayne syndrome B DNA repair-transcription-coupling factor.
Citterio E, Van Den Boom V, Schnitzler G, Kanaar R, Bonte E, Kingston RE, Hoeijmakers JH, Vermeulen W
Molecular and cellular biology. 2000 ; 20 (20) : 7643-7653.
PMID 11003660
 
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
 
Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression.
Garssen J, van Steeg H, de Gruijl F, de Boer J, van der Horst GT, van Kranen H, van Loveren H, van Dijk M, Fluitman A, Weeda G, Hoeijmakers JH
Journal of immunology (Baltimore, Md. : 1950). 2000 ; 164 (12) : 6199-6205.
PMID 10843671
 
DNA repair. The bases for Cockayne syndrome.
Hanawalt PC
Nature. 2000 ; 405 (6785) : 415-416.
PMID 10839526
 
Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome.
Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK
Cell. 2000 ; 101 (2) : 159-171.
PMID 10786832
 
UV-induced inhibition of transcription involves repression of transcription initiation and phosphorylation of RNA polymerase II.
Rockx DA, Mason R, van Hoffen A, Barton MC, Citterio E, Bregman DB, van Zeeland AA, Vrieling H, Mullenders LH
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (19) : 10503-10508.
PMID 10973477
 
Molecular characterization of an acidic region deletion mutant of Cockayne syndrome group B protein.
Sunesen M, Selzer RR, Brosh RM Jr, Balajee AS, Stevnsner T, Bohr VA
Nucleic acids research. 2000 ; 28 (16) : 3151-3159.
PMID 10931931
 
Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis.
van Oosten M, Rebel H, Friedberg EC, van Steeg H, van der Horst GT, van Kranen HJ, Westerman A, van Zeeland AA, Mullenders LH, de Gruijl FR
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (21) : 11268-11273.
PMID 11005836
 
The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice.
Wijnhoven SW, Kool HJ, van Oostrom CT, Beems RB, Mullenders LH, van Zeeland AA, van der Horst GT, Vrieling H, van Steeg H
Cancer research. 2000 ; 60 (20) : 5681-5687.
PMID 11059760
 
Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes.
Yu A, Fan HY, Liao D, Bailey AD, Weiner AM
Molecular cell. 2000 ; 5 (5) : 801-810.
PMID 10882116
 
Deletion of the CSB homolog, RAD26, yields Spt(-) strains with proficient transcription-coupled repair.
Gregory SM, Sweder KS
Nucleic acids research. 2001 ; 29 (14) : 3080-3086.
PMID 11452033
 
Analysis of repair and PCNA complex formation induced by ionizing radiation in human fibroblast cell lines.
Karmakar P, Balajee AS, Natarajan AT
Mutagenesis. 2001 ; 16 (3) : 225-232.
PMID 11320148
 
Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice.
Lu Y, Lian H, Sharma P, Schreiber-Agus N, Russell RG, Chin L, van der Horst GT, Bregman DB
Molecular and cellular biology. 2001 ; 21 (5) : 1810-1818.
PMID 11238917
 
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

Search in all EBI   NCBI

Contributor(s)

Written09-2001Anne Stary, Alain Sarasin

Citation

This paper should be referenced as such :
Stary A, Sarasin A . ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6). Atlas Genet Cytogenet Oncol Haematol. September 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/CSBID302.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37806/1/09-2001-CSBID302.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Apr 18 17:32:52 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.