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ERCC-3 (Excision repair cross-complementing rodent repair deficiency, complementation group 3)

Identity

Other namesXPB
XPBC
HGNC ERCC3
Location 2q21
 
  XPB (2q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description 2751 b mRNA

Protein

Description 782 amino acids
Expression ubiquitous
Localisation nuclear
Function DNA excision repair protein. 3'-5' ATP-dependent helicase activity involved in excision DNA repair and initiation of basal transcription
  • The XPB protein displays a 3'-5' helicase activity. This protein is a subunit of the basal transcription factor TFIIH involved in both Nucleotide Excision Repair (NER) and the initiation of RNA polymerase II . Indeed, TFIIH fulfills a dual role in transcription initiation and NER and the role of TFIIH in NER might closely mimic its role in the transcription initiation process. In transcription initiation TFIIH is thought to be involved in unwinding of the promoter site to allowing promoter clearance. In the NER process TFIIH causes unwinding of the lesion-containing region that has been localized by XPC-HR23B and XPA-RPA, enabling the accumulation of NER proteins around the damaged site.
  • Among the Xeroderma pigmentosum (XP) patients, XPB patients are extremely rare (only 3 patients known in the world) due to the fact that the XPB gene product is essential for transcription initiation and in all cases, these patients show the double symptoms of Xeroderma pigmentosum and Cockayne syndrome (CS) (see below).
  • Homology haywire gene (FLYBASE, hay) ; Ercc3 (MGI : 95414)

    Mutations

    Germinal F99S (T296C) is found in two XPB/CS patients; T119P (A355C) is found in two TTD/XPB patients; FS740 is found in one XPB/CS patient

    Implicated in

    Entity ERCC3/XPB
    Disease Xeroderma pigmentosum and Cockayne syndrome in the same patient or Trichothiodystrophy. Early skin cancers
      

    External links

    Nomenclature
    HGNCERCC3   3435
    Entrez_GeneERCC3  2071  excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)
    Cards
    AtlasXPBID296
    GeneCardsERCC3
    EnsemblERCC3 [Search_View]   ENSG00000163161 [Gene_View]
    GenatlasERCC3
    GeneLynxERCC3
    eGenomeERCC3
    euGene2071
    Genomic and cartography
    GoldenPathERCC3  -  2q21   chr2:127731336-127768222 -  2q21   [Description]    (hg18-Mar_2006)
    EnsemblERCC3 - 2q21 [CytoView]
    NCBIMapview
    OMIMDisease map [OMIM]
    HomoloGeneERCC3
    Gene and transcription
    GenbankAK091500 [ ENTREZ ]
    GenbankAK095557 [ ENTREZ ]
    GenbankAK127469 [ ENTREZ ]
    GenbankAK222465 [ ENTREZ ]
    GenbankAK290474 [ ENTREZ ]
    RefSeqNM_000122 [ SRS ]    NM_000122 [ ENTREZ ]
    RefSeqAC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
    RefSeqAC_000134 [ SRS ]    AC_000134 [ ENTREZ ]
    RefSeqNC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
    RefSeqNG_007454 [ SRS ]    NG_007454 [ ENTREZ ]
    RefSeqNT_022135 [ SRS ]    NT_022135 [ ENTREZ ]
    RefSeqNW_001838849 [ SRS ]    NW_001838849 [ ENTREZ ]
    RefSeqNW_921507 [ SRS ]    NW_921507 [ ENTREZ ]
    AceViewERCC3 AceView - NCBI
    UnigeneHs.469872 [ SRS ]    Hs.469872 [ NCBI ]     HS469872 [ spliceNest ]
    Fast-db10600 (alternative variants)
    Protein : pattern, domain, 3D structure
    SwissProtP19447 [ SRS]    P19447 [ EXPASY ]     P19447 [ INTERPRO ]     P19447 [ UNIPROT ]
    PrositePS51192 HELICASE_ATP_BIND_1 [ SRS ]    PS51192 HELICASE_ATP_BIND_1 [ Expasy ]
    PrositePS51194 HELICASE_CTER [ SRS ]    PS51194 HELICASE_CTER [ Expasy ]
    InterproIPR014001 DEAD-like_N [ SRS ]    IPR014001 DEAD-like_N [ EBI ]
    InterproIPR001650 DNA/RNA_helicase_C [ SRS ]    IPR001650 DNA/RNA_helicase_C [ EBI ]
    InterproIPR014021 Helicase_SF1/SF2_ATP-bd [ SRS ]    IPR014021 Helicase_SF1/SF2_ATP-bd [ EBI ]
    InterproIPR006935 Restrct_endonuc_I_R/III_Res [ SRS ]    IPR006935 Restrct_endonuc_I_R/III_Res [ EBI ]
    InterproIPR001161 XPGB_DNA_repair [ SRS ]    IPR001161 XPGB_DNA_repair [ EBI ]
    CluSTrP19447
    PfamPF00271 Helicase_C [ SRS ]    PF00271 Helicase_C [ Sanger ]    pfam00271 [ NCBI-CDD ]
    PfamPF04851 ResIII [ SRS ]    PF04851 ResIII [ Sanger ]    pfam04851 [ NCBI-CDD ]
    SmartSM00487 DEXDc [EMBL]
    SmartSM00490 HELICc [EMBL]
    BlocksP19447
    HPRD00593
    Protein Interaction databases
    DIPP19447
    IntActP19447
    Polymorphism : SNP, mutations, diseases
    OMIM133510;601675;610651    [ map ]   
    GENECLINICS133510;601675;610651
    SNPERCC3 [dbSNP-NCBI]  
    SNPNM_000122 [SNP-NCI]  
    SNPERCC3 [GeneSNPs - Utah]  ERCC3] [HGBASE - SRS]
    HAPMAPERCC3 [HAPMAP]  
    COSMICERCC3 [Somatic mutation (COSMIC-CGP-Sanger)]  
    HGMDERCC3
    General knowledge
    Family BrowserERCC3 [UCSC Family Browser]
    SOURCENM_000122
    SMDHs.469872
    SAGEHs.469872
    Enzyme3.6.1.- [ Enzyme-Expasy ]   3.6.1.- [ Enzyme-SRS ]   3.6.1.- [ IntEnz-EBI ]   3.6.1.- [ BRENDA ]   3.6.1.- [ KEGG ]   3.6.1.- [ WIT ]
    GOcell cycle checkpoint [Amigo]  cell cycle checkpoint
    GOnucleotide binding [Amigo]  nucleotide binding
    GOnucleotide-excision repair, DNA duplex unwinding [Amigo]  nucleotide-excision repair, DNA duplex unwinding
    GOnucleotide-excision repair, DNA damage removal [Amigo]  nucleotide-excision repair, DNA damage removal
    GOdamaged DNA binding [Amigo]  damaged DNA binding
    GOATP-dependent DNA helicase activity [Amigo]  ATP-dependent DNA helicase activity
    GOhelicase activity [Amigo]  helicase activity
    GOATP binding [Amigo]  ATP binding
    GOnucleus [Amigo]  nucleus
    GOnucleoplasm [Amigo]  nucleoplasm
    GOholo TFIIH complex [Amigo]  holo TFIIH complex
    GOholo TFIIH complex [Amigo]  holo TFIIH complex
    GODNA topological change [Amigo]  DNA topological change
    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
    GOtranscription initiation from RNA polymerase II promoter [Amigo]  transcription initiation from RNA polymerase II promoter
    GORNA elongation from RNA polymerase II promoter [Amigo]  RNA elongation from RNA polymerase II promoter
    GOinduction of apoptosis [Amigo]  induction of apoptosis
    GOinduction of apoptosis [Amigo]  induction of apoptosis
    GOresponse to oxidative stress [Amigo]  response to oxidative stress
    GOsensory perception of sound [Amigo]  sensory perception of sound
    GOprotein C-terminus binding [Amigo]  protein C-terminus binding
    GOprotein localization [Amigo]  protein localization
    GOtranscription factor binding [Amigo]  transcription factor binding
    GOresponse to UV [Amigo]  response to UV
    GOhydrolase activity [Amigo]  hydrolase activity
    GOATPase activity [Amigo]  ATPase activity
    GOnucleotide-excision repair, DNA incision [Amigo]  nucleotide-excision repair, DNA incision
    GOhair cell differentiation [Amigo]  hair cell differentiation
    GO3'-5' DNA helicase activity [Amigo]  3'-5' DNA helicase activity
    GO3'-5' DNA helicase activity [Amigo]  3'-5' DNA helicase activity
    GOpositive regulation of transcription from RNA polymerase II promoter [Amigo]  positive regulation of transcription from RNA polymerase II promoter
    GOprotein N-terminus binding [Amigo]  protein N-terminus binding
    BIOCARTACARM1 and Regulation of the Estrogen Receptor    [Genes]
    BIOCARTAChromatin Remodeling by hSWI/SNF ATP-dependent Complexes    [Genes]
    BIOCARTANuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells    [Genes]
    KEGGStarch and sucrose metabolism
    KEGGFolate biosynthesis
    PubGeneERCC3
    TreeFamERCC3
    CTD2071 [Comparative ToxicoGenomics Database]
    Other databases
    Probes
    ProbeCancer Cytogenetics (Bari)
    ProbeERCC3 Related clones (RZPD - Berlin)
    PubMed
    PubMed87 Pubmed reference(s) in LocusLink

    Bibliography

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    Weeda G, van Ham RC, Masurel R, Westerveld A, Odijk H, de Wit J, Bootsma D, van der Eb AJ, Hoeijmakers JH
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    PMID 2111438
     
    A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.
    Weeda G, van Ham RC, Vermeulen W, Bootsma D, van der Eb AJ, Hoeijmakers JH
    Cell. 1990 ; 62 (4) : 777-791.
    PMID 2167179
     
    Characterization of the mouse homolog of the XPBC/ERCC-3 gene implicated in xeroderma pigmentosum and Cockayne's syndrome.
    Weeda G, Ma L, van Ham RC, Bootsma D, van der Eb AJ, Hoeijmakers JH
    Carcinogenesis. 1991 ; 12 (12) : 2361-2368.
    PMID 1747940
     
    Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome.
    Weeda G, Ma LB, van Ham RC, van der Eb AJ, Hoeijmakers JH
    Nucleic acids research. 1991 ; 19 (22) : 6301-6308.
    PMID 1956789
     
    Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.
    Weeda G, Wiegant J, van der Ploeg M, Geurts van Kessel AH, van der Eb AJ, Hoeijmakers JH
    Genomics. 1991 ; 10 (4) : 1035-1040.
    PMID 1916809
     
    Molecular and functional analysis of the XPBC/ERCC-3 promoter: transcription activity is dependent on the integrity of an Sp1-binding site.
    Ma L, Weeda G, Jochemsen AG, Bootsma D, Hoeijmakers JH, van der Eb AJ
    Nucleic acids research. 1992 ; 20 (2) : 217-224.
    PMID 1741247
     
    A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene.
    Mounkes LC, Jones RS, Liang BC, Gelbart W, Fuller MT
    Cell. 1992 ; 71 (6) : 925-937.
    PMID 1458540
     
    DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor.
    Schaeffer L, Roy R, Humbert S, Moncollin V, Vermeulen W, Hoeijmakers JH, Chambon P, Egly JM
    Science (New York, N.Y.). 1993 ; 260 (5104) : 58-63.
    PMID 8465201
     
    Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II.
    Drapkin R, Reardon JT, Ansari A, Huang JC, Zawel L, Ahn K, Sancar A, Reinberg D
    Nature. 1994 ; 368 (6473) : 769-772.
    PMID 8152490
     
    p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair.
    Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JH, Egly JM, Moncollin V
    The EMBO journal. 1994 ; 13 (10) : 2393-2398.
    PMID 8194529
     
    Mutational analysis of ERCC3, which is involved in DNA repair and transcription initiation: identification of domains essential for the DNA repair function.
    Ma L, Westbroek A, Jochemsen AG, Weeda G, Bosch A, Bootsma D, Hoeijmakers JH, van der Eb AJ
    Molecular and cellular biology. 1994 ; 14 (6) : 4126-4134.
    PMID 8196650
     
    The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor.
    Schaeffer L, Moncollin V, Roy R, Staub A, Mezzina M, Sarasin A, Weeda G, Hoeijmakers JH, Egly JM
    The EMBO journal. 1994 ; 13 (10) : 2388-2392.
    PMID 8194528
     
    Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).
    van Vuuren AJ, Vermeulen W, Ma L, Weeda G, Appeldoorn E, Jaspers NG, van der Eb AJ, Bootsma D, Hoeijmakers JH, Humbert S
    The EMBO journal. 1994 ; 13 (7) : 1645-1653.
    PMID 8157004
     
    Comparative analyses of relative ERCC3 and ERCC6 mRNA levels in gliomas and adjacent non-neoplastic brain.
    Dabholkar MD, Berger MS, Vionnet JA, Overton L, Thompson C, Bostick-Bruton F, Yu JJ, Silber JR, Reed E
    Molecular carcinogenesis. 1996 ; 17 (1) : 1-7.
    PMID 8876669
     
    A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.
    Hwang JR, Moncollin V, Vermeulen W, Seroz T, van Vuuren H, Hoeijmakers JH, Egly JM
    The Journal of biological chemistry. 1996 ; 271 (27) : 15898-15904.
    PMID 8663148
     
    Functional interactions between p53 and the TFIIH complex are affected by tumour-associated mutations.
    Lˆ©veillard T, Andera L, Bissonnette N, Schaeffer L, Bracco L, Egly JM, Wasylyk B
    The EMBO journal. 1996 ; 15 (7) : 1615-1624.
    PMID 8612585
     
    Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIH.
    Qadri I, Conaway JW, Conaway RC, Schaack J, Siddiqui A
    Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (20) : 10578-10583.
    PMID 8855220
     
    The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway.
    Wang XW, Vermeulen W, Coursen JD, Gibson M, Lupold SE, Forrester K, Xu G, Elmore L, Yeh H, Hoeijmakers JH, Harris CC
    Genes & development. 1996 ; 10 (10) : 1219-1232.
    PMID 8675009
     
    TFIIH functions in regulating transcriptional elongation by RNA polymerase II in Xenopus oocytes.
    Yankulov KY, Pandes M, McCracken S, Bouchard D, Bentley DL
    Molecular and cellular biology. 1996 ; 16 (7) : 3291-3299.
    PMID 8668144
     
    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
     
    Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells.
    Tu Y, Bates S, Pfeifer GP
    The Journal of biological chemistry. 1997 ; 272 (33) : 20747-20755.
    PMID 9252397
     
    A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
    Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, TaˆØeb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A
    American journal of human genetics. 1997 ; 60 (2) : 320-329.
    PMID 9012405
     
    The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor.
    Weeda G, Rossignol M, Fraser RA, Winkler GS, Vermeulen W, van 't Veer LJ, Ma L, Hoeijmakers JH, Egly JM
    Nucleic acids research. 1997 ; 25 (12) : 2274-2283.
    PMID 9173976
     
    Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.
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    PMID 9415314
     
    A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
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    Molecular cell. 1998 ; 1 (7) : 981-990.
    PMID 9651581
     
    Cloning of a cDNA from Arabidopsis thaliana homologous to the human XPB gene.
    Ribeiro DT, Machado CR, Costa RM, Praekelt UM, Van Sluys MA, Menck CF
    Gene. 1998 ; 208 (2) : 207-213.
    PMID 9524267
     
    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
     
    Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.
    Coin F, Bergmann E, Tremeau-Bravard A, Egly JM
    The EMBO journal. 1999 ; 18 (5) : 1357-1366.
    PMID 10064601
     
    BCR binds to the xeroderma pigmentosum group B protein.
    Maru Y, Kobayashi T, Tanaka K, Shibuya M
    Biochemical and biophysical research communications. 1999 ; 260 (2) : 309-312.
    PMID 10403766
     
    A role for the TFIIH XPB DNA helicase in promoter escape by RNA polymerase II.
    Moreland RJ, Tirode F, Yan Q, Conaway JW, Egly JM, Conaway RC
    The Journal of biological chemistry. 1999 ; 274 (32) : 22127-22130.
    PMID 10428772
     
    Molecular characterization of mutant alleles of the DNA repair/basal transcription factor haywire/ERCC3 in Drosophila.
    Mounkes LC, Fuller MT
    Genetics. 1999 ; 152 (1) : 291-297.
    PMID 10224261
     
    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, TaˆØeb A, Weeda G, Mezzina M, Sarasin A
    Human molecular genetics. 1999 ; 8 (6) : 1125-1133.
    PMID 10332046
     
    The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein.
    Takeda N, Shibuya M, Maru Y
    Proceedings of the National Academy of Sciences of the United States of America. 1999 ; 96 (1) : 203-207.
    PMID 9874796
     
    Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.
    Tirode F, Busso D, Coin F, Egly JM
    Molecular cell. 1999 ; 3 (1) : 87-95.
    PMID 10024882
     
    Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population.
    Butkiewicz D, Rusin M, Harris CC, Chorazy M
    Human mutation. 2000 ; 15 (6) : 577-578.
    PMID 10862089
     
    Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking.
    Douziech M, Coin F, Chipoulet JM, Arai Y, Ohkuma Y, Egly JM, Coulombe B
    Molecular and cellular biology. 2000 ; 20 (21) : 8168-8177.
    PMID 11027286
     
    Molecular structure of human TFIIH.
    Schultz P, Fribourg S, Poterszman A, Mallouh V, Moras D, Egly JM
    Cell. 2000 ; 102 (5) : 599-607.
    PMID 11007478
     
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    Contributor(s)

    Written02-2001Anne Stary and Alain Sarasin

    Citation

    This paper should be referenced as such :
    Stary A, Sarasin A . ERCC-3 (Excision repair cross-complementing rodent repair deficiency, complementation group 3). Atlas Genet Cytogenet Oncol Haematol. February 2001 .
    URL : http://AtlasGeneticsOncology.org/Genes/XPBID296.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Mon Aug 11 21:18:34 2008


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