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Human DNA Repair Genes

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Science  16 Feb 2001:
Vol. 291, Issue 5507, pp. 1284-1289
DOI: 10.1126/science.1056154
  • Table 1

    Human DNA repair genes. A version of this table with active links to Gene Cards (bioinformatics.weizmann.ac.il/cards) and to the National Center for Biotechnology Information is available (24) on Science Online. A version with updates is available at www.cgal.icnet.uk/DNA_Repair_Genes.html. XP, xeroderma pigmentosum.

    Gene name (synonyms)ActivityChromosome locationAccession number
    Base excision repair (BER)
    DNA glycosylases: major altered base released
    UNGU12q23-q24.1NM_003362
    SMUG1U12q13.1-q14NM_014311
    MBD4U or T opposite G at CpG sequences3q21-q22NM_003925
    TDGU, T or ethenoC opposite G12q24.1NM_003211
    OGG18-oxoG opposite C3p26.2NM_002542
    MYHA opposite 8-oxoG1p34.3-p32.1NM_012222
    NTH1Ring-saturated or fragmented pyrimidines16p13.3-p13.2NM_002528
    MPG3-meA, ethenoA, hypoxanthine16p13.3NM_002434
    Other BER factors
    APE1 (HAP1, APEX, REF1)AP endonuclease14q12NM_001641
    APE2 (APEXL2)AP endonucleaseXNM_014481
    LIG3Main ligation function17q11.2-q12NM_013975
    XRCC1Main ligation function19q13.2NM_006297
    Poly(ADP-ribose) polymerase (PARP) enzymes
    ADPRTProtects strand interruptions1q42NM_001618
    ADPRTL2PARP-like enzyme14q11.2-q12NM_005485
    ADPRTL3PARP-like enzyme3p21.1-p22.2 AF085734
    Direct reversal of damage
    MGMTO6-meG alkyltransferase10q26NM_002412
    Mismatch excision repair (MMR)
    MSH2Mismatch and loop recognition2p22-p21NM_000251
    MSH3Mismatch and loop recognition5q11-q12NM_002439
    MSH6Mismatch recognition2p16NM_000179
    MSH4MutS homolog specialized for meiosis1p31NM_002440
    MSH5MutS homolog specialized for meiosis6p21.3NM_002441
    PMS1Mitochondrial MutL homolog2q31.1NM_000534
    MLH1MutL homolog3p21.3NM_000249
    PMS2MutL homolog7p22NM_000535
    MLH3MutL homolog of unknown function14q24.3NM_014381
    PMS2L3MutL homolog of unknown function7q11-q22 D38437
    PMS2L4MutL homolog of unknown function7q11-q22 D38438
    Nucleotide excision repair (NER)
    XPCBinds damaged DNA as complex3p25NM_004628
    RAD23B (HR23B)Binds damaged DNA as complex3p25.1NM_002874
    CETN2Binds damaged DNA as complexXq28NM_004344
    RAD23A (HR23A)Substitutes for HR23B19p13.2NM_005053
    XPABinds damaged DNA in preincision complex9q22.3NM_000380
    RPA1Binds DNA in preincision complex17p13.3NM_ 002945
    RPA2Binds DNA in preincision complex1p35NM_002946
    RPA3Binds DNA in preincision complex7p22NM_002947
    TFIIHCatalyzes unwinding in preincision complex
    XPB (ERCC3)3′ to 5′ DNA helicase2q21NM_000122
    XPD (ERCC2)5′ to 3′ DNA helicase19q13.2-q13.3X52221
    GTF2H1Core TFIIH subunit p6211p15.1-p14NM_005316
    GTF2H2Core TFIIH subunit p445q12.2-q13.3NM_001515
    GTF2H3Core TFIIH subunit p3412qNM_001516
    GTF2H4Core TFIIH subunit p526p21.3NM_001517
    CDK7Kinase subunit of TFIIH2p15-cenNM_001799
    CCNHKinase subunit of TFIIH5q13.3-q14NM_001239
    MNAT1Kinase subunit of TFIIH14q23NM_002431
    XPG (ERCC5)3′ incision13q33NM_000123
    ERCC15′ incision subunit19q13.2-q13.3NM_001983
    XPF (ERCC4)5′ incision subunit16p13.3-p13.13NM_005236
    LIG1DNA joining19q13.2-q13.3NM_000234
    NER-related
    CSA (CKN1)Cockayne syndrome; needed for transcription-coupled NER5q12-q31NM_000082
    CSB (ERCC6)Cockayne syndrome; needed for transcription-coupled NER10q11NM_000124
    XAB2 (HCNP)Cockayne syndrome; needed for transcription-coupled NER19NM_020196
    DDB1Complex defective in XP group E11q12-q13NM_001923
    DDB2Mutated in XP group E11p12-p11NM_000107
    MMS19Transcription and NER10q24.1 AW852889
    Homologous recombination
    RAD51Homologous pairing15q15.1NM_002875
    RAD51L1 (RAD51B)Rad51 homolog14q23-q24 U84138
    RAD51CRad51 homolog17q11-qterNM_002876
    RAD51L3 (RAD51D)Rad51 homolog17q11NM_002878
    Gene name (synonyms)ActivityChromosome locationAccession number
    DMC1Rad51 homolog, meiosis22q13.1NM_007068
    XRCC2DNA break and cross-link repair7q36.1NM_005431
    XRCC3DNA break and cross-link repair14q32.3NM_005432
    RAD52Accessory factor for recombination12p13-p12.2NM_002879
    RAD54LAccessory factor for recombination1p32NM_003579
    RAD54BAccessory factor for recombination8q21.3-q22NM_012415
    BRCA1Accessory factor for transcription and recombination17q21NM_007295
    BRCA2Cooperation with RAD51, essential function13q12.3NM_000059
    RAD50ATPase in complex with MRE11A, NBS15q31NM_005732
    MRE11A3′ exonuclease11q21NM_005590
    NBS1Mutated in Nijmegen breakage syndrome8q21-q24NM_002485
    mdit>Nonhomologous end-joining
    Ku70 (G22P1)DNA end binding22q13.2-q13.31NM_001469
    Ku80 (XRCC5)DNA end binding2q35 M30938
    PRKDCDNA-dependent protein kinase catalytic subunit8q11NM_006904
    LIG4Nonhomologous end-joining13q33-q34NM_002312
    XRCC4Nonhomologous end-joining5q13-q14NM_003401
    Sanitization of nucleotide pools
    MTH1 (NUDT1)8-oxoGTPase7p22NM_002452
    DUTdUTPase15q15-q21.1NM_001948
    DNA polymerases (catalytic subunits)
    POLBBER in nuclear DNA8p11.2NM_002690
    POLGBER in mitochondrial DNA15q25NM_002693
    POLD1NER and MMR19q13.3NM_002691
    POLE1NER and MMR12q24.3NM_006231
    PCNASliding clamp for pol delta and pol epsilon20p12NM_002592
    REV3L (POLZ)DNA pol zeta catalytic subunit, essential function6q21NM_002912
    REV7 (MAD2L2)DNA pol zeta subunit1p36NM_006341
    REV1dCMP transferase2q11.1-q11.2NM_016316
    POLHXP variant6p12.2-p21.1NM_006502
    POLI (RAD30B)Lesion bypass18q21.1NM_007195
    POLQDNA cross-link repair3q13.31NM_006596
    DINB1 (POLK)Lesion bypass5q13NM_016218
    POLLMeiotic function10q23NM_013274
    POLMPresumed specialized lymphoid function7p13NM_013284
    TRF4-1Sister-chromatid cohesion5p15 AF089896
    TRF4-2Sister-chromatid cohesion16p13.3 AF089897
    Editing and processing nucleases
    FEN1 (DNase IV)5′ nuclease11q12NM_004111
    TREX1 (DNase III)3′ exonuclease3p21.2-p21.3NM_007248
    TREX23′ exonucleaseXq28NM_007205
    EX01 (HEX1)5′ exonuclease1q42-q43NM_003686
    SPO11endonuclease20q13.2-q13.3NM_012444
    Rad6 pathway
    UBE2A (RAD6A)Ubiquitin-conjugating enzymeXq24-q25NM_003336
    UBE2B (RAD6B)Ubiquitin-conjugating enzyme5q23-q31NM_003337
    RAD18Assists repair or replication of damaged DNA3p24-p25 AB035274
    UBE2VE (MMS2)Ubiquitin-conjugating complex8p AF049140
    UBE2N (UBC13, BTG1)Ubiquitin-conjugating complex12NM_003348
    Genes defective in diseases associated with sensitivity to DNA damaging agents
    BLMBloom syndrome helicase15q26.1NM_000057
    WRNWerner syndrome helicase/3′-exonuclease8p12-p11.2NM_000553
    RECQL4Rothmund-Thompson syndrome8q24.3NM_004260
    ATMAtaxia telangiectasia11q22-q23NM_000051
    Fanconi anemia
    FANCAInvolved in tolerance or repair of DNA cross-links16q24.3NM_000135
    FANCBInvolved in tolerance or repair of DNA cross-linksN/AN/A
    FANCCInvolved in tolerance or repair of DNA cross-links9q22.3NM_000136
    FANCDInvolved in tolerance or repair of DNA cross-links3p26-p22N/A
    FANCEInvolved in tolerance or repair of DNA cross-links6p21-p22NM_021922
    FANCFInvolved in tolerance or repair of DNA cross-links11p15 AF181994
    FANCG (XRCC9)Involved in tolerance or repair of DNA cross-links9p13NM_004629
    Other identified genes with a suspected DNA repair function
    SNM1 (PS02)DNA cross-link repair10q25 D42045
    SNM1BRelated to SNM11p13.1-p13.3 AL137856
    SNM1CRelated to SNM110 AA315885
    RPA4Similar to RPA2XqNM_013347
    ABH (ALKB)Resistance to alkylation damage14q24 X91992
    PNKPConverts some DNA breaks to ligatable ends19q13.3-q13.4NM_007254
    Gene name (synonyms)ActivityChromosome locationAccession number
    Other conserved DNA damage response genes
    ATRATM- and PI-3K–like essential kinase3q22-q24NM_001184
    RAD1 (S. pombe) homologPCNA-like DNA damage sensor5p13.3-p13.2NM_002853
    RAD9 (S. pombe) homologPCNA-like DNA damage sensor11q13.1-q13.2NM_004584
    HUS1 (S. pombe) homologPCNA-like DNA damage sensor7p13-p12NM_004507
    RAD17 (RAD24)RFC-like DNA damage sensor5q13NM_002873
    TP53BP1BRCT protein15q15-q21NM_005657
    CHEK1Effector kinase11q22-q23NM_001274
    CHK2 (Rad53)Effector kinase22q12.1NM_007194

Additional Files


  • Abstract
    Full Text
    Human DNA Repair Genes
    Richard D. Wood, Michael Mitchell, John Sgouros, and Tomas Lindahl

    Supplementary Material

    Supplemental Table 1. Can be viewed as an HTML document by clicking here.

    A version of this table with updates is available on http://www.cgal.icnet.uk/DNA_Repair_Genes.html. Clicking on the Gene Name in the first column provides a direct link to the Gene Card (hosted at the UK mirror), where available. This provides a convenient compilation of information on DNA and protein sequences, ESTs, chromosome mapping, key references to the literature, and any available structural information. Gene Cards can also be directly accessed at http://bioinformatics.weizmann.ac.il/cards. Clicking on the chromosome column gives a direct link to a local view of the human cytogenetic map and an entry into Locus Link, via the National Center for Biotechnology Information (also available on http://www.ncbi.nlm.nih.gov/cgi-bin/Entrez/maps.cgi). Clicking on the accession number gives a direct link to RefSeq or GenBank entries with the corresponding nucleotide and protein sequences, also accessible through http://www.ncbi.nlm.nih.gov/entrez. In a few cases, accession numbers are not currently available (N/A).

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