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

Identity

Other names	CSB (Cockayne syndrome B)
	CKN2
Hugo	ERCC6
Location	10q11-10q21
	ERCC6 (10q11-10q21) - 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

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
Hugo	ERCC6
GDB	ERCC6
Entrez_Gene	ERCC6  2074  excision repair cross-complementing rodent repair deficiency, complementation group 6
	Cards
Atlas	CSBID302
GeneCards	ERCC6
Ensembl	ERCC6 [Search_View]   ENSG00000032514 [Gene_View]
Genatlas	ERCC6
GeneLynx	ERCC6
eGenome	ERCC6
euGene	2074
	Genomic and cartography
GoldenPath	ERCC6  -     chr10:50336715-50417078 -  10q11.23   [Description]    (hg18-Mar_2006)
Ensembl	ERCC6 - 10q11.23 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ERCC6
	Gene and transcription
Genbank	AB209504 [ ENTREZ ]
Genbank	AK094670 [ ENTREZ ]
Genbank	AK130100 [ ENTREZ ]
Genbank	BC127104 [ ENTREZ ]
Genbank	CR749388 [ ENTREZ ]
RefSeq	NM_000124 [ SRS ]    NM_000124 [ ENTREZ ]
RefSeq	AC_000053 [ SRS ]    AC_000053 [ ENTREZ ]
RefSeq	NC_000010 [ SRS ]    NC_000010 [ ENTREZ ]
RefSeq	NT_017696 [ SRS ]    NT_017696 [ ENTREZ ]
RefSeq	NW_924685 [ SRS ]    NW_924685 [ ENTREZ ]
AceView	ERCC6 AceView - NCBI
Unigene	Hs.654449 [ SRS ]    Hs.654449 [ NCBI ]     HS654449 [ spliceNest ]
Fast-db	10170 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q03468 [ SRS]    Q03468 [ EXPASY ]     Q03468 [ INTERPRO ]
Prosite	PS51192 HELICASE_ATP_BIND_1 [ SRS ]    PS51192 HELICASE_ATP_BIND_1 [ Expasy ]
Prosite	PS51194 HELICASE_CTER [ SRS ]    PS51194 HELICASE_CTER [ Expasy ]
Interpro	IPR014001 DEAD-like_N [ SRS ]    IPR014001 DEAD-like_N [ EBI ]
Interpro	IPR001650 DNA/RNA_helicase_C [ SRS ]    IPR001650 DNA/RNA_helicase_C [ EBI ]
Interpro	IPR014021 Helicase_SF1/SF2_ATP-bd [ SRS ]    IPR014021 Helicase_SF1/SF2_ATP-bd [ EBI ]
Interpro	IPR000330 SNF2_N [ SRS ]    IPR000330 SNF2_N [ EBI ]
CluSTr	Q03468
Pfam	PF00271 Helicase_C [ SRS ]    PF00271 Helicase_C [ Sanger ]    pfam00271 [ NCBI-CDD ]
Pfam	PF00176 SNF2_N [ SRS ]    PF00176 SNF2_N [ Sanger ]    pfam00176 [ NCBI-CDD ]
Smart	SM00487 DEXDc [EMBL]
Smart	SM00490 HELICc [EMBL]
Blocks	Q03468
HPRD	00596
	Protein Interaction databases
DIP	Q03468
IntAct	Q03468
	Polymorphism : SNP, mutations, diseases
OMIM	133540;214150;278800;609413    [ map ]
GENECLINICS	133540;214150;278800;609413
SNP	ERCC6 [dbSNP-NCBI]
SNP	NM_000124 [SNP-NCI]
SNP	ERCC6 [GeneSNPs - Utah]  ERCC6] [HGBASE - SRS]
HAPMAP	ERCC6 [HAPMAP]
COSMIC	ERCC6 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	ERCC6
	General knowledge
Family Browser	ERCC6 [UCSC Family Browser]
SOURCE	NM_000124
SMD	Hs.654449
SAGE	Hs.654449
Enzyme	3.6.1.- [ Enzyme-SRS ]   3.6.1.- [ Brenda-SRS ]   3.6.1.- [ KEGG ]   3.6.1.- [ WIT ]
GO	nucleotide binding [Amigo]  nucleotide binding
GO	DNA binding [Amigo]  DNA binding
GO	DNA binding [Amigo]  DNA binding
GO	DNA helicase activity [Amigo]  DNA helicase activity
GO	chromatin binding [Amigo]  chromatin binding
GO	transcription elongation regulator activity [Amigo]  transcription elongation regulator activity
GO	helicase activity [Amigo]  helicase activity
GO	ATP binding [Amigo]  ATP binding
GO	ATP binding [Amigo]  ATP binding
GO	soluble fraction [Amigo]  soluble fraction
GO	nucleus [Amigo]  nucleus
GO	nucleoplasm [Amigo]  nucleoplasm
GO	nucleolus [Amigo]  nucleolus
GO	transcription-coupled nucleotide-excision repair [Amigo]  transcription-coupled nucleotide-excision repair
GO	base-excision repair [Amigo]  base-excision repair
GO	transcription [Amigo]  transcription
GO	regulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GO	transcription from RNA polymerase II promoter [Amigo]  transcription from RNA polymerase II promoter
GO	response to oxidative stress [Amigo]  response to oxidative stress
GO	sensory perception of sound [Amigo]  sensory perception of sound
GO	protein C-terminus binding [Amigo]  protein C-terminus binding
GO	transcription elongation factor complex [Amigo]  transcription elongation factor complex
GO	DNA-dependent ATPase activity [Amigo]  DNA-dependent ATPase activity
GO	response to UV [Amigo]  response to UV
GO	hydrolase activity [Amigo]  hydrolase activity
GO	protein complex binding [Amigo]  protein complex binding
GO	positive regulation of RNA elongation [Amigo]  positive regulation of RNA elongation
GO	protein N-terminus binding [Amigo]  protein N-terminus binding
PubGene	ERCC6
TreeFam	ERCC6
CTD	2074 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	ERCC6 Related clones (RZPD - Berlin)
	PubMed
PubMed	51 Pubmed reference(s) in LocusLink

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, Top��u M, Oz��n 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, Ta��eb 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

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Contributor(s)

Written	09-2001	Anne 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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:22:53 2008