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

2001-02-01   Anne Stary , Alain Sarasin 

Laboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France


Atlas Image
XPB (2q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.



2751 b mRNA







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)



    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 name
    Xeroderma pigmentosum and Cockayne syndrome in the same patient or Trichothiodystrophy. Early skin cancers


    Pubmed IDLast YearTitleAuthors
    108620892000Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population.Butkiewicz D et al
    100646011999Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.Coin F et al
    88766691996Comparative analyses of relative ERCC3 and ERCC6 mRNA levels in gliomas and adjacent non-neoplastic brain.Dabholkar MD et al
    92784841997Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.Dianov GL et al
    110272862000Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking.Douziech M et al
    81524901994Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II.Drapkin R et al
    81945291994p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair.Humbert S et al
    86631481996A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.Hwang JR et al
    86125851996Functional interactions between p53 and the TFIIH complex are affected by tumour-associated mutations.Léveillard T et al
    17412471992Molecular and functional analysis of the XPBC/ERCC-3 promoter: transcription activity is dependent on the integrity of an Sp1-binding site.Ma L et al
    81966501994Mutational analysis of ERCC3, which is involved in DNA repair and transcription initiation: identification of domains essential for the DNA repair function.Ma L et al
    104037661999BCR binds to the xeroderma pigmentosum group B protein.Maru Y et al
    104287721999A role for the TFIIH XPB DNA helicase in promoter escape by RNA polymerase II.Moreland RJ et al
    102242611999Molecular characterization of mutant alleles of the DNA repair/basal transcription factor haywire/ERCC3 in Drosophila.Mounkes LC et al
    88552201996Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIH.Qadri I et al
    95242671998Cloning of a cDNA from Arabidopsis thaliana homologous to the human XPB gene.Ribeiro DT et al
    103320461999The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.Riou L et al
    81945281994The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor.Schaeffer L et al
    110074782000Molecular structure of human TFIIH.Schultz P et al
    98747961999The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein.Takeda N et al
    97743881998RNA 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 et al
    100248821999Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.Tirode F et al
    92523971997Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells.Tu Y et al
    86750091996The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway.Wang XW et al
    90124051997A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.Weeda G et al
    19567891991Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome.Weeda G et al
    91739761997The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor.Weeda G et al
    19168091991Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.Weeda G et al
    21671791990A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.Weeda G et al
    86681441996TFIIH functions in regulating transcriptional elongation by RNA polymerase II in Xenopus oocytes.Yankulov KY et al
    94153141997Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.Zeng L et al
    96515811998A mouse model for the basal transcription/DNA repair syndrome Boer J et al
    81570041994Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).van Vuuren AJ et al

    Other Information

    Locus ID:

    NCBI: 2071
    MIM: 133510
    HGNC: 3435
    Ensembl: ENSG00000163161


    dbSNP: 2071
    ClinVar: 2071
    TCGA: ENSG00000163161


    Gene IDTranscript IDUniprot

    Expression (GTEx)



    PathwaySourceExternal ID
    Basal transcription factorsKEGGko03022
    Nucleotide excision repairKEGGko03420
    Basal transcription factorsKEGGhsa03022
    Nucleotide excision repairKEGGhsa03420
    Holo-TFIIH complexKEGGhsa_M00290
    Holo-TFIIH complexKEGGM00290
    Infectious diseaseREACTOMER-HSA-5663205
    HIV InfectionREACTOMER-HSA-162906
    HIV Life CycleREACTOMER-HSA-162587
    Late Phase of HIV Life CycleREACTOMER-HSA-162599
    Transcription of the HIV genomeREACTOMER-HSA-167172
    HIV Transcription InitiationREACTOMER-HSA-167161
    RNA Polymerase II HIV Promoter EscapeREACTOMER-HSA-167162
    RNA Pol II CTD phosphorylation and interaction with CE during HIV infectionREACTOMER-HSA-167160
    HIV Transcription ElongationREACTOMER-HSA-167169
    Formation of the HIV-1 Early Elongation ComplexREACTOMER-HSA-167158
    Tat-mediated elongation of the HIV-1 transcriptREACTOMER-HSA-167246
    Formation of HIV-1 elongation complex containing HIV-1 TatREACTOMER-HSA-167200
    Formation of HIV elongation complex in the absence of HIV TatREACTOMER-HSA-167152
    Gene ExpressionREACTOMER-HSA-74160
    Generic Transcription PathwayREACTOMER-HSA-212436
    Transcriptional Regulation by TP53REACTOMER-HSA-3700989
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
    RNA Polymerase I TranscriptionREACTOMER-HSA-73864
    RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
    RNA Polymerase I Transcription InitiationREACTOMER-HSA-73762
    RNA Polymerase I Promoter EscapeREACTOMER-HSA-73772
    RNA Polymerase I Chain ElongationREACTOMER-HSA-73777
    RNA Polymerase I Transcription TerminationREACTOMER-HSA-73863
    RNA Polymerase II TranscriptionREACTOMER-HSA-73857
    RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
    RNA Polymerase II Transcription Pre-Initiation And Promoter OpeningREACTOMER-HSA-73779
    RNA Polymerase II Transcription Initiation And Promoter ClearanceREACTOMER-HSA-76042
    RNA Polymerase II Transcription InitiationREACTOMER-HSA-75953
    RNA Polymerase II Promoter EscapeREACTOMER-HSA-73776
    RNA Pol II CTD phosphorylation and interaction with CEREACTOMER-HSA-77075
    RNA Polymerase II Transcription ElongationREACTOMER-HSA-75955
    Formation of the Early Elongation ComplexREACTOMER-HSA-113418
    Formation of RNA Pol II elongation complexREACTOMER-HSA-112382
    mRNA CappingREACTOMER-HSA-72086
    Epigenetic regulation of gene expressionREACTOMER-HSA-212165
    Negative epigenetic regulation of rRNA expressionREACTOMER-HSA-5250941
    NoRC negatively regulates rRNA expressionREACTOMER-HSA-427413
    DNA RepairREACTOMER-HSA-73894
    Nucleotide Excision RepairREACTOMER-HSA-5696398
    Global Genome Nucleotide Excision Repair (GG-NER)REACTOMER-HSA-5696399
    Formation of Incision Complex in GG-NERREACTOMER-HSA-5696395
    Dual Incision in GG-NERREACTOMER-HSA-5696400
    Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
    Formation of TC-NER Pre-Incision ComplexREACTOMER-HSA-6781823
    Dual incision in TC-NERREACTOMER-HSA-6782135
    Gap-filling DNA repair synthesis and ligation in TC-NERREACTOMER-HSA-6782210
    TP53 Regulates Transcription of DNA Repair GenesREACTOMER-HSA-6796648

    Protein levels (Protein atlas)

    Not detected


    Entity IDNameTypeEvidenceAssociationPKPDPMIDs
    PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD25069034
    PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD25069034


    Pubmed IDYearTitleCitations
    152209212004A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.95
    174666262007Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.95
    128209752003Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.77
    246093612014G quadruplexes are genomewide targets of transcriptional helicases XPB and XPD.64
    211574302011The phosphorylation of the androgen receptor by TFIIH directs the ubiquitin/proteasome process.56
    123938032002Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.40
    186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
    128659262003Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer.30
    200046342010Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51.28
    196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25


    Anne Stary ; Alain Sarasin

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

    Atlas Genet Cytogenet Oncol Haematol. 2001-02-01

    Online version: