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ERCC3 (Excision repair cross-complementing rodent repair deficiency, complementation group 3)

Identity

Other namesERCC-3 (Excision repair cross-complementing rodent repair deficiency, complementation group 3)
XPB
XPBC
HGNC (Hugo) ERCC3
LocusID (NCBI) 2071
Location 2q14.3
Location_base_pair Starts at 128014866 and ends at 128051752 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  XPB (2q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

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
    HGNC (Hugo)ERCC3   3435
    Cards
    AtlasXPBID296
    Entrez_Gene (NCBI)ERCC3  2071  excision repair cross-complementation group 3
    GeneCards (Weizmann)ERCC3
    Ensembl (Hinxton)ENSG00000163161 [Gene_View]  chr2:128014866-128051752 [Contig_View]  ERCC3 [Vega]
    ICGC DataPortalENSG00000163161
    AceView (NCBI)ERCC3
    Genatlas (Paris)ERCC3
    WikiGenes2071
    SOURCE (Princeton)NM_000122
    Genomic and cartography
    GoldenPath (UCSC)ERCC3  -  2q14.3   chr2:128014866-128051752 -  2q21   [Description]    (hg19-Feb_2009)
    EnsemblERCC3 - 2q21 [CytoView]
    Mapping of homologs : NCBIERCC3 [Mapview]
    OMIM133510   601675   610651   
    Gene and transcription
    Genbank (Entrez)AK091500 AK095557 AK127469 AK222465 AK290474
    RefSeq transcript (Entrez)NM_000122
    RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_007454 NT_005403 NW_001838849 NW_004929304
    Consensus coding sequences : CCDS (NCBI)ERCC3
    Cluster EST : UnigeneHs.469872 [ NCBI ]
    CGAP (NCI)Hs.469872
    Alternative Splicing : Fast-db (Paris)GSHG0017970
    Alternative Splicing GalleryENSG00000163161
    Gene ExpressionERCC3 [ NCBI-GEO ]     ERCC3 [ SEEK ]   ERCC3 [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtP19447 (Uniprot)
    NextProtP19447  [Medical]
    With graphics : InterProP19447
    Splice isoforms : SwissVarP19447 (Swissvar)
    Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
    Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
    Domains : Interpro (EBI)Helicase/UvrB_dom    Helicase_ATP-bd    Helicase_C    Helicase_Ercc3    P-loop_NTPase   
    Related proteins : CluSTrP19447
    Domain families : Pfam (Sanger)Helicase_C (PF00271)    ResIII (PF04851)   
    Domain families : Pfam (NCBI)pfam00271    pfam04851   
    Domain families : Smart (EMBL)DEXDc (SM00487)  HELICc (SM00490)  
    DMDM Disease mutations2071
    Blocks (Seattle)P19447
    PDB (SRS)4ERN   
    PDB (PDBSum)4ERN   
    PDB (IMB)4ERN   
    PDB (RSDB)4ERN   
    Human Protein AtlasENSG00000163161
    Peptide AtlasP19447
    HPRD00593
    IPIIPI00747053   IPI00917823   IPI00917440   
    Protein Interaction databases
    DIP (DOE-UCLA)P19447
    IntAct (EBI)P19447
    FunCoupENSG00000163161
    BioGRIDERCC3
    IntegromeDBERCC3
    STRING (EMBL)ERCC3
    Ontologies - Pathways
    QuickGOP19447
    Ontology : AmiGOnucleotide-excision repair, DNA duplex unwinding  nucleotide-excision repair, DNA damage removal  response to hypoxia  DNA binding  damaged DNA binding  ATP-dependent DNA helicase activity  protein kinase activity  protein binding  ATP binding  GTP binding  nucleus  nucleus  nucleoplasm  holo TFIIH complex  holo TFIIH complex  nucleolus  ATP catabolic process  DNA topological change  DNA repair  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair  transcription from RNA polymerase I promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  protein phosphorylation  apoptotic process  response to oxidative stress  protein C-terminus binding  DNA-dependent ATPase activity  DNA-dependent ATPase activity  protein localization  transcription factor binding  RNA polymerase II carboxy-terminal domain kinase activity  response to UV  UV protection  gene expression  viral process  ATPase activity  dATP binding  nucleotide-excision repair, DNA incision  hair cell differentiation  peptide binding  positive regulation of apoptotic process  3'-5' DNA helicase activity  3'-5' DNA helicase activity  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  positive regulation of viral transcription  regulation of mitotic cell cycle phase transition  
    Ontology : EGO-EBInucleotide-excision repair, DNA duplex unwinding  nucleotide-excision repair, DNA damage removal  response to hypoxia  DNA binding  damaged DNA binding  ATP-dependent DNA helicase activity  protein kinase activity  protein binding  ATP binding  GTP binding  nucleus  nucleus  nucleoplasm  holo TFIIH complex  holo TFIIH complex  nucleolus  ATP catabolic process  DNA topological change  DNA repair  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair  transcription from RNA polymerase I promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  protein phosphorylation  apoptotic process  response to oxidative stress  protein C-terminus binding  DNA-dependent ATPase activity  DNA-dependent ATPase activity  protein localization  transcription factor binding  RNA polymerase II carboxy-terminal domain kinase activity  response to UV  UV protection  gene expression  viral process  ATPase activity  dATP binding  nucleotide-excision repair, DNA incision  hair cell differentiation  peptide binding  positive regulation of apoptotic process  3'-5' DNA helicase activity  3'-5' DNA helicase activity  positive regulation of transcription from RNA polymerase II promoter  protein N-terminus binding  positive regulation of viral transcription  regulation of mitotic cell cycle phase transition  
    Pathways : KEGGBasal transcription factors    Nucleotide excision repair   
    REACTOMEP19447 [protein]
    REACTOME PathwaysREACT_216 DNA Repair [pathway]
    REACTOME PathwaysREACT_116125 Disease [pathway]
    REACTOME PathwaysREACT_71 Gene Expression [pathway]
    REACTOME PathwaysREACT_1788 Transcription [pathway]
    Protein Interaction DatabaseERCC3
    Wikipedia pathwaysERCC3
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)ERCC3
    SNP (GeneSNP Utah)ERCC3
    SNP : HGBaseERCC3
    Genetic variants : HAPMAPERCC3
    1000_GenomesERCC3 
    ICGC programENSG00000163161 
    Cancer Gene: CensusERCC3 
    CONAN: Copy Number AnalysisERCC3 
    Somatic Mutations in Cancer : COSMICERCC3 
    LOVD (Leiden Open Variation Database)Whole genome datasets
    LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
    LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
    DECIPHER (Syndromes)2:128014866-128051752
    Mutations and Diseases : HGMDERCC3
    OMIM133510    601675    610651   
    MedgenERCC3
    GENETestsERCC3
    Disease Genetic AssociationERCC3
    Huge Navigator ERCC3 [HugePedia]  ERCC3 [HugeCancerGEM]
    Genomic VariantsERCC3  ERCC3 [DGVbeta]
    Exome VariantERCC3
    dbVarERCC3
    ClinVarERCC3
    snp3D : Map Gene to Disease2071
    General knowledge
    Homologs : HomoloGeneERCC3
    Homology/Alignments : Family Browser (UCSC)ERCC3
    Phylogenetic Trees/Animal Genes : TreeFamERCC3
    Chemical/Protein Interactions : CTD2071
    Chemical/Pharm GKB GenePA27849
    Clinical trialERCC3
    Cancer Resource (Charite)ENSG00000163161
    Other databases
    Probes
    ProbeCancer Cytogenetics (Bari)
    Litterature
    PubMed145 Pubmed reference(s) in Entrez
    CoreMineERCC3
    GoPubMedERCC3
    iHOPERCC3

    Bibliography

    Molecular cloning and biological characterization of the human excision repair gene ERCC-3.
    Weeda G, van Ham RC, Masurel R, Westerveld A, Odijk H, de Wit J, Bootsma D, van der Eb AJ, Hoeijmakers JH
    Molecular and cellular biology. 1990 ; 10 (6) : 2570-2581.
    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.
    Zeng L, Quilliet X, Chevallier-Lagente O, Eveno E, Sarasin A, Mezzina M
    Gene therapy. 1997 ; 4 (10) : 1077-1084.
    PMID 9415314
     
    A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
    de Boer J, de Wit J, van Steeg H, Berg RJ, Morreau H, Visser P, Lehmann AR, Duran M, Hoeijmakers JH, Weeda G
    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. 2001;5(2):88-90.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Genes/XPBID296.html

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