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ERCC5 Gene

protein-coding   GIFtS: 68
GCID: GC13P103497

Excision Repair Cross-Complementation Group 5

(Previous names: xeroderma pigmentosum, complementation group G, excision...)
(Previous symbols: ERCM2, XPGC)
  See ERCC5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Excision Repair Cross-Complementation Group 51 2     COFS32 5
ERCM21 2 3     Cockayne Syndrome1
XPGC1 2 3     UVDR2
XPG2 3 5     DNA Repair Protein Complementing XP-G Cells2
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 51 2
     XPG-Complementing Protein2
Xeroderma Pigmentosum, Complementation Group G1 2     EC 3.1.-.-3
DNA Excision Repair Protein ERCC-52 3     Xeroderma Pigmentosum Group G-Complementing Protein3

External Ids:    HGNC: 34371   Entrez Gene: 20732   Ensembl: ENSG000001348997   OMIM: 1335305   UniProtKB: P287153   

Export aliases for ERCC5 gene to outside databases

Previous GC identifers: GC13P101858 GC13P097885 GC13P102334 GC13P101196 GC13P102296 GC13P084090 GC13P103459


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ERCC5 Gene:
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair
following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase
II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum
complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder
characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following
UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects,
mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring
upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for ERCC5 Gene:
ERCC5 (excision repair cross-complementation group 5) is a protein-coding gene. Diseases associated with ERCC5 include xeroderma pigmentosum, group g, and xeroderma pigmentosum, group g/cockayne syndrome. GO annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is BIVM-ERCC5.

UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715
Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the
3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes
oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in
transcription by RNA polymerase II, and perhaps in other processes too

Gene Wiki entry for ERCC5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_009952.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERCC5 gene promoter:
         Nkx3-1   C/EBPbeta   Nkx3-1 v4   p53   Nkx3-1 v1   HNF-1A   AREB6   Nkx3-1 v2   HNF-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERCC5 promoter sequence
   Search Chromatin IP Primers for ERCC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERCC5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q33   Ensembl cytogenetic band:  13q33.1   HGNC cytogenetic band: 13q22-q34

ERCC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC5 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P103497:  view genomic region     (about GC identifiers)

Start:
103,497,194 bp from pter      End:
103,528,351 bp from pter
Size:
31,158 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715 (See protein sequence)
Recommended Name: DNA repair protein complementing XP-G cells  
Size: 1186 amino acids; 133108 Da
Cofactor: Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme.
May bind an additional third magnesium ion after substrate binding (By similarity)
Subunit: Interacts with PCNA
Secondary accessions: A6NGT4 Q5JUS4 Q5JUS5 Q7Z2V3 Q8IZL6 Q8N1B7 Q9HD59 Q9HD60
Alternative splicing: 3 isoforms:  P28715-1   P28715-2   P28715-3   (No experimental confirmation available. Includes a cryptic exon found in intron 6)

Explore the universe of human proteins at neXtProt for ERCC5: NX_P28715

Explore proteomics data for ERCC5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys172, Lys293, Lys298, Lys313, Lys433
  • Modification sites at PhosphoSitePlus

  • See ERCC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000114.2  
    ENSEMBL proteins: 
     ENSP00000347978   ENSP00000436083   ENSP00000365121   ENSP00000442117  
    Reactome Protein details: P28715

    ERCC5 Human Recombinant Protein Products:

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    Novus Biologicals ERCC5 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for ERCC5

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    antibodies-online antibodies for ERCC5 (41 products) 

    ERCC5 Assay Products:

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    antibodies-online kits for ERCC5 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR006084 XPG/Rad2
     IPR006086 XPG-I_dom
     IPR006085 XPG_DNA_repair_N
     IPR001044 XPG/Rad2_eukaryotes
     IPR019974 XPG_CS

    Graphical View of Domain Structure for InterPro Entry P28715

    ProtoNet protein and cluster: P28715

    3 Blocks protein domains:
    IPB001044 Xeroderma pigmentosum group G protein signature
    IPB006084 Xeroderma pigmentosum group G/yeast RAD superfamily signature
    IPB008918 Helix-hairpin-helix motif


    UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715
    Similarity: Belongs to the XPG/RAD2 endonuclease family. XPG subfamily


    Find genes that share domains with ERCC5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERCC5_HUMAN, P28715
    Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the
    3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes
    oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in
    transcription by RNA polymerase II, and perhaps in other processes too

         Genatlas biochemistry entry for ERCC5:
    excision repair cross-complementing rodent repair defect in CHO cells,complementation group 5,yeast RAD2 homolog
    (see XPG),deleted in metastatic prostate carcinomas

         Enzyme Number (IUBMB): EC 3.1.-.-1

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000405bubble DNA binding IDA16246722
    GO:0003677DNA binding ----
    GO:0003690double-stranded DNA binding IDA12644470
    GO:0003697single-stranded DNA binding IDA12644470
    GO:0003824catalytic activity ----
         
    Find genes that share ontologies with ERCC5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ERCC5:
     Increased cell death HMECs cel 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ercc5):
     digestive/alimentary  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with ERCC5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ERCC5: Ercc5tm3Shm Ercc5tm1Shm Ercc5tm2Shm

       genOway: Develop your customized and physiologically relevant rodent model for ERCC5

    miRNA
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    miRTarBase miRNAs that target ERCC5:
    hsa-mir-124-3p (MIRT022203)

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    2 qRT-PCR Assays for microRNAs that regulate ERCC5:
    hsa-miR-590-3p hsa-miR-664
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ERCC5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ERCC5 (NM_000123)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC5
    Addgene plasmids for ERCC5 

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERCC5_HUMAN, P28715: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005675colocalizes with holo TFIIH complex IDA11259578
    GO:0005730NOT nucleolus IDA--
    GO:0016591colocalizes with DNA-directed RNA polymerase II, holoenzyme IDA16246722

    Find genes that share ontologies with ERCC5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ERCC5 About    
    See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Formation of incision complex in GG-NER0.62
    Nucleotide excision repair0.69
    Nucleotide Excision Repair Pathway0.48
    Dual incision reaction in GG-NER0.62
    2DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Dual incision reaction in TC-NER0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32


    Find genes that share SuperPaths with ERCC5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ERCC5
        DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway

    4 Reactome Pathways for ERCC5
        Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER
    Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


    1 Kegg Pathway  (Kegg details for ERCC5):
        Nucleotide excision repair

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC5: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERCC5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ERCC5 (P287152, 3 ENSP000003479784) via UniProtKB, MINT, STRING, and/or I2D (see all 213)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2H4Q927593, ENSP000002598954I2D: score=2 STRING: ENSP00000259895
    ENSG00000221974Q927593I2D: score=2 
    ENSG00000226384Q927593I2D: score=2 
    ENSG00000233149Q927593I2D: score=2 
    ENSG00000234370Q927593I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0000737DNA catabolic process, endonucleolytic IDA12644470
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--

    Find genes that share ontologies with ERCC5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ERCC5

    8 Novoseek inferred chemical compound relationships for ERCC5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thymine glycol 77.2 11 10766805 (2), 9927729 (2), 11554293 (1)
    irofulven 67.3 3 15328203 (3)
    ecteinascidin 743 57.1 4 11479630 (2), 15328203 (1)
    cisplatin 29.7 2 15328203 (1), 16849332 (1)
    phosphodiester 25.2 2 9188507 (1)
    oligonucleotide 0 1 8090225 (1)
    atp 0 3 9618470 (1), 11141066 (1), 16246722 (1)
    histidine 0 2 10517877 (1), 11228268 (1)

    1 PharmGKB related drug/compound annotation for ERCC5 gene    About this table
    Drug/compound PharmGKB Annotation
    platinumCA  



    Find genes that share compounds with ERCC5           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ERCC5 gene: 
    NM_000123.3  

    Unigene Cluster for ERCC5:

    Excision repair cross-complementing rodent repair deficiency, complementation group 5
    Hs.258429  [show with all ESTs]
    Unigene Representative Sequence: NM_001204425
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355739(uc001vpu.2 uc010tjb.2 uc001vpw.3 uc010tjc.1 uc010tjd.1)
    ENST00000472151 ENST00000375958 ENST00000375954 ENST00000481099 ENST00000472247
    ENST00000535557
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    hsa-miR-590-3p hsa-miR-664
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    GenScript: all cDNA clones in your preferred vector: ERCC5 (NM_000123)
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      QuantiFast Probe-based Assays in human, mouse, rat ERCC5

    Additional mRNA sequence: 

    AF462447.1 AK294708.1 AK299758.1 BC031522.2 BX647399.1 D16305.1 L20046.1 X69978.1 

    11 DOTS entries:

    DT.117699  DT.100684017  DT.40284853  DT.92431332  DT.117701  DT.86843311  DT.120788615  DT.95335234 
    DT.95374634  DT.100711460  DT.91698693 

    9 AceView cDNA sequences:

    BQ067419 AW404132 AA708780 BQ707436 AA708523 AW574626 BF908784 AA161242 
    AA521132 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERCC5 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                          -     -                       -                       -                             -                                       
    SP2:                    -           -                                                                                                                     
    SP3:                                                        -                                                                                             
    SP4:                                                                                                                                                      
    SP5:                          -     -                                                                                                                     


    ECgene alternative splicing isoforms for ERCC5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ERCC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGTGGATTT
    ERCC5 Expression
    About this image


    ERCC5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Brain (Nervous System)
             Cerebral Cortex
    ERCC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERCC5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.258429
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC5: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ERCC5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ERCC5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ercc51 , 5 excision repair cross-complementing rodent repair deficiency, more1, 5 75.71(n)1
    70.06(a)1
      1 (23.55 cM)5
    225921  NM_011729.21  NP_035859.21 
     441478475 
    chicken
    (Gallus gallus)
    Aves ERCC51 excision repair cross-complementing rodent repair deficiency, more 64.14(n)
    60.62(a)
      428019  NM_001034823.1  NP_001029995.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    56(a)
    1 → many
    3(101065875-101099416)
    African clawed frog
    (Xenopus laevis)
    Amphibia XPGC2 XP-G related factor 75.14(n)    X69977.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ercc56
    excision repair cross-complementing rodent repair ...
    47(a)
    1 → many
    1(348782-368977) ENSDARG00000023678
    fruit fly
    (Drosophila melanogaster)
    Insecta mus2013 base-excision repair single-stranded
    DNA specific more
    41(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea gen-16
    xpg-16
    Protein XPG-1 (xpg-1) mRNA, complete cds
    27(a)
    24(a)
    many ↔ many
    many ↔ many
    III(6245924-6248234) WBGene00020442
    I(6558700-6562392) WBGene00019004
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD26
    Single-stranded DNA endonuclease, cleaves single-s...
    23(a)
    1 → many
    VII(1007671-1010766) YGR258C


    ENSEMBL Gene Tree for ERCC5 (if available)
    TreeFam Gene Tree for ERCC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for ERCC5 gene
    BIVM-ERCC52  
    1 SIMAP similar gene for ERCC5 using alignment to 3 protein entries:     ERCC5_HUMAN (see all proteins):
    BIVM-ERCC5

    Find genes that share paralogs with ERCC5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ERCC5 (see all 925)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0170974
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0170972 L P mis40--------
    VAR_0077334
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0077332 A V mis40--------
    VAR_0152804
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0152802 P H mis40--------
    rs289294961,2,4
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0170962 mis40--------
    rs1214345721,2
    Cpathogenic184441661(+) ACATCC/TGAAGG 2 R * stg10--------
    rs1214345761,2
    Cpathogenic184448237(+) TAACCA/GCCATG 2 T A mis10--------
    rs359001941,2
    C--84102210(+) GTGAA-/TT    
       
    /TTTC
    TTTCT
    1 -- int10--------
    rs350552501,2
    C--84102213(+) AATTT-/A/AC  
     TT
    /CTTA
    CTTTT
    1 -- int11CSA 2
    rs678100821,2
    C--84102215(+) ATTTC-/CTTA  
            
    TTTTA
    1 -- int10--------
    rs2008653721,2
    --84102215(+) TTTCT-/TACTTTAA 1 -- cds10--------

    HapMap Linkage Disequilibrium report for ERCC5 (103497194 - 103528351 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ERCC5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661939CNV Deletion23128226
    nsv900972CNV Loss21882294

    Human Gene Mutation Database (HGMD): ERCC5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERCC5
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 133530   
    OMIM disorders: 278780  
    UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715
  • Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]: An autosomal recessive pigmentary skin
    disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas
    exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other
    pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism,
    pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma
    pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 10 diseases for ERCC5:    
    About MalaCards
    xeroderma pigmentosum, group g    xeroderma pigmentosum, group g/cockayne syndrome    ercc5-related xeroderma pigmentosum    cockayne syndrome
    xanthogranulomatous pyelonephritis    cerebro-oculo-facio-skeletal syndrome    xeroderma pigmentosum    cockayne syndrome type ii
    xeroderma pigmentosum, group c    photosensitive trichothiodystrophy

    4 diseases from the University of Copenhagen DISEASES database for ERCC5:
    Xeroderma pigmentosum     Cockayne syndrome     Photosensitive trichothiodystrophy     Xanthogranulomatous pyelonephritis

    Find genes that share disorders with ERCC5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ERCC5 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum, complementation group g 95.3 7 7951246 (1), 10395909 (1), 17208056 (1), 10766805 (1) (see all 5)
    xeroderma pigmentosum 93.9 32 11479630 (2), 11841555 (2), 7510366 (2), 7951246 (1) (see all 24)
    cockayne syndrome 93.6 20 9864391 (2), 16246722 (2), 8855246 (1), 16167068 (1) (see all 12)
    trichothiodystrophy 82.6 1 11104904 (1)
    cofs syndrome 80.3 2 11443545 (1)
    genetic disorder 14.6 1 11479630 (1)
    cancer lung 13.3 9 12869423 (3), 16550608 (2), 14694596 (1), 19289372 (1)
    cancer 11.3 2 12869423 (1), 11479630 (1)
    growth retardation 8.47 1 15082767 (1)
    tumors 0 4 8703115 (1), 10517877 (1), 15328203 (1), 19157633 (1)

    GeneTests: ERCC5
    GeneReviews: ERCC5
    Genetic Association Database (GAD): ERCC5
    Human Genome Epidemiology (HuGE) Navigator: ERCC5 (112 documents)

    Export disorders for ERCC5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for ERCC5 gene, integrated from 10 sources (see all 279) (see top 10):
    (articles sorted by number of sources associating them with ERCC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization. (PubMed id 8088806)1, 2, 3 Samec S....Clarkson S.G. (Genomics 1994)
    2. An ERCC5 gene with homology to yeast RAD2 is involved in group G Xeroderma pigmentosum. (PubMed id 7510366)1, 2, 9 Shiomi T.... Yamaizumi M. (Mutat. Res. 1994)
    3. Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe. (PubMed id 8413238)1, 2, 9 Macinnes M.A....Yu J.Y. (Mol. Cell. Biol. 1993)
    4. The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. (PubMed id 11841555)1, 2, 9 Lalle P.... Clarkson S.G. (J. Invest. Dermatol. 2002)
    5. XPG protein has a structure-specific endonuclease activity. (PubMed id 7651464)1, 2, 9 Cloud K.G.... Park M.S. (Mutat. Res. 1995)
    6. Relationship between XPG codon 1104 polymorphism and risk of primary lung cancer. (PubMed id 12869423)1, 4, 9 Jeon H.S....Park J.Y. (Carcinogenesis 2003)
    7. Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. (PubMed id 7951246)1, 2, 9 Nouspikel T. and Clarkson S.G. (Hum. Mol. Genet. 1994)
    8. Single nucleotide polymorphism analysis of the nucleotide excision repair genes XPC, XPA, and XPG in the Indian population. (PubMed id 18478970)1, 4, 9 Gowda S....Rao M.R. (Hum. Biol. 2007)
    9. Polymorphisms in the DNA repair genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis. (PubMed id 17164380)1, 4, 9 Li C....Wei Q. (amp 2006)
    10. The XPG story. (PubMed id 14726017)1, 2, 9 Clarkson S.G. (Biochimie 2003)
    11. Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. (PubMed id 11228268)1, 2, 9 Zafeiriou D.I.... Clarkson S.G. (Pediatr. Res. 2001)
    12. Isolation of active recombinant XPG protein, a human DNA repair endonuclease. (PubMed id 8206890)1, 2, 9 O'Donovan A.... Wood R.D. (J. Biol. Chem. 1994)
    13. Polymorphisms in XRCC1 and XPG and response to platinum-based chemotherapy in advanced non-small cell lung cancer patients. (PubMed id 19157633)1, 4, 9 Sun X....Yingfeng Z. (Lung Cancer 2009)
    14. Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes: effects on DNA damage. (PubMed id 16043197)1, 4, 9 Naccarati A....Vodicka P. (Mutat. Res. 2006)
    15. The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms. (PubMed id 11266544)1, 2, 9 Emmert S.... Kraemer K.H. (Nucleic Acids Res. 2001)
    16. The DNA repair endonuclease XPG binds to proliferating cell nuclear antigen (PCNA) and shares sequence elements with the PCNA-binding regions of FEN-1 and cyclin-dependent kinase inhibitor p21. (PubMed id 9305916)1, 2, 9 Gary R.... Park M.S. (J. Biol. Chem. 1997)
    17. XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair. (PubMed id 8090225)1, 2, 9 O'Donovan A.... Wood R.D. (Nature 1994)
    18. Association and impact of XPG Asp 1104 His gene polymorphism in HIV 1 disease progression to AIDS among north Indian HIV seropositive individuals. (PubMed id 19693700)1, 4, 9 Sobti R.C....Wanchu A. (Mol. Biol. Rep. 2010)
    19. Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland. (PubMed id 16823510)1, 4, 9 Jorgensen T.J....Helzlsouer K.J. (Breast Cancer Res. Treat. 2007)
    20. Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations. (PubMed id 17685459)1, 4, 9 Laczmanska I....Sasiadek M.M. (Environ. Mol. Mutagen. 2007)
    21. Nucleotide excision repair gene polymorphisms and risk of advanced colorectal adenoma: XPC polymorphisms modify smoking-related risk. (PubMed id 16492920)1, 4, 9 Huang W.Y....Hayes R.B. (amp 2006)
    22. No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma. (PubMed id 15494739)1, 4, 9 Blankenburg S....Emmert S. (Eur. J. Hum. Genet. 2005)
    23. Polymorphisms in DNA repair and metabolic genes in bladder cancer. (PubMed id 14688016)1, 4, 9 Sanyal S.... Hemminki K. (Carcinogenesis 2004)
    24. Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer. (PubMed id 12865926)1, 4, 9 Mort R....Melton D.W. (Br. J. Cancer 2003)
    25. Polymorphisms in nucleotide excision repair genes, polycyclic aromatic hydrocarbon-DNA adducts, and breast cancer risk. (PubMed id 17932351)1, 4, 9 Crew K.D....Santella R.M. (amp 2007)
    26. Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency. (PubMed id 17078101)1, 4, 9 Laczmanska I....Sasiadek M.M. (Environ. Mol. Mutagen. 2006)
    27. Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia. (PubMed id 20232390)1, 4 Shi J.Y....Chen S.J. (Int. J. Cancer 2011)
    28. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    29. Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies. (PubMed id 20813000)1, 4 Shen M....Zheng T. (Br. J. Haematol. 2010)
    30. Synergistic effects of polymorphisms in DNA repair genes and endogenous estrogen exposure on female breast cancer risk. (PubMed id 20183911)1, 4 Ming-Shiean H....Cheng C.W. (Ann. Surg. Oncol. 2010)
    31. DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma. (PubMed id 20150366)1, 4 Rajaraman P....Inskip P.D. (Neuro-oncology 2010)
    32. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    33. [Association of XPC and XPG polymorphisms with the risk of hepatocellular carcinoma]. (PubMed id 20460046)1, 4 Li L.M....Yu H.P. (Zhonghua Gan Zang Bing Za Zhi 2010)
    34. Possible associations of APE1 polymorphism with susceptibility and HOGG1 polymorphism with prognosis in gastric cancer. (PubMed id 20530453)1, 4 Canbay E....Bugra D. (Anticancer Res. 2010)
    35. DNA repair genes in endometriosis. (PubMed id 20391347)1, 4 Attar R....Agachan B. (Genet. Mol. Res. 2010)
    36. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    37. Interactions between ultraviolet light exposure and DNA repair gene polymorphisms may increase melanoma risk. (PubMed id 20199546)1, 4 Di Lucca J....Soufir N. (Br. J. Dermatol. 2010)
    38. Comprehensive analysis of DNA repair gene polymorphisms and survival in patients with early stage non-small-cell lung cancer. (PubMed id 20731661)1, 4 Kim M....Park J.Y. (Cancer Sci. 2010)
    39. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    40. Modulation of nucleotide excision repair in human lymphocytes by genetic and dietary factors. (PubMed id 19878615)1, 4 Langie S.A....van Schooten F.J. (Br. J. Nutr. 2010)
    41. Single-nucleotide polymorphisms in DNA-repair genes and cutaneous melanoma. (PubMed id 20601096)1, 4 Figl A....Kumar R. (Mutat. Res. 2010)
    42. Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk. (PubMed id 19029193)1, 4 Joshi A.D....Stern M.C. (Carcinogenesis 2009)
    43. Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk. (PubMed id 19237606)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2009)
    44. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    45. Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China. (PubMed id 19661089)1, 4 Hussain S.K....Zhang Z.F. (amp 2009)
    46. Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes. (PubMed id 19444904)1, 4 Abbasi R....Popanda O. (Int. J. Cancer 2009)
    47. [Genetic susceptibility of single nucleotide polymorphism in MGMT to non-Hodgkin lymphoma]. (PubMed id 19954624)1, 4 Yang F....Shen Z.X. (Zhonghua Xue Ye Xue Za Zhi 2009)
    48. Chromosomal aberrations in railroad transit workers: effect of genetic polymorphisms. (PubMed id 19177501)1, 4 CatalA!n J....Norppa H. (Environ. Mol. Mutagen. 2009)
    49. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (Br. J. Haematol. 2009)
    50. Bladder cancer and polymorphisms of DNA repair genes (XRCC1, XRCC3, XPD, XPG, APE1, hOGG1). (PubMed id 19414392)1, 4 Narter K.F....Isbir T. (Anticancer Res. 2009)
    51. Population study of genetic polymorphisms and superficial bladder cancer risk in Han-Chinese smokers in Shanghai. (PubMed id 19350405)1, 4 Wen H....Fang J. (Int Urol Nephrol 2009)
    52. Genetic polymorphisms in DNA repair genes as modulators of Hodgkin disease risk. (PubMed id 19280628)1, 4 El-Zein R....Strom S.S. (Cancer 2009)
    53. Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients. (PubMed id 19434073)1, 4 Caronia D....GonzA!lez-Neira A. (Pharmacogenomics J. 2009)
    54. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    55. XPA A23G polymorphism is associated with the elevated response to platinum-based chemotherapy in advanced non-small cell lung cancer. (PubMed id 19430706)1, 4 Feng J....Zhou Y. (Acta Biochim. Biophys. Sin. (Shanghai) 2009)
    56. DNA repair gene variants associated with benign breast disease in high cancer risk women. (PubMed id 19124519)1, 4 Jorgensen T.J....Visvanathan K. (amp 2009)
    57. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    58. A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers. (PubMed id 19789190)1, 4 Young R.P....Gamble G.D. (Postgrad Med J 2009)
    59. A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. (PubMed id 19116388)1, 4 Vineis P....Matullo G. (J. Natl. Cancer Inst. 2009)
    60. Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway. (PubMed id 19270000)1, 4 Pan J....Wu X. (Carcinogenesis 2009)
    61. Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma. (PubMed id 18830263)1, 4 Wang S.S....Cerhan J.R. (Leukemia 2009)
    62. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. (PubMed id 19536092)1, 4 Kweekel D.M....Guchelaar H.J. (Br. J. Cancer 2009)
    63. Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy. (PubMed id 18854777)1, 4 Wu X....Spitz M.R. (Pharmacogenet. Genomics 2008)
    64. International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways. (PubMed id 18990748)1, 4 Hung R.J....Brennan P. (amp 2008)
    65. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (amp 2008)
    66. Susceptibility of XRCC3, XPD, and XPG genetic variants to cervical carcinoma. (PubMed id 19096231)1, 4 He X....Chen H. (Pathobiology 2008)
    67. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (Carcinogenesis 2008)
    68. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. (PubMed id 18701435)1, 4 Smith T.R....Hu J.J. (Carcinogenesis 2008)
    69. [The evaluation of association between polymorphisms of DNA excision repair enzyme genes and risk of malignant tumors development in Siberian Group of Chemical Enterprises workers]. (PubMed id 18825991)1, 4 FreA-din M.B....Karpov A.B. (Radiats Biol Radioecol 2008)
    70. Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists. (PubMed id 18767034)1, 4 Rajaraman P....Sigurdson A.J. (Int. J. Cancer 2008)
    71. NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans. (PubMed id 18026184)1, 4 Hooker S....Kittles R.A. (Prostate Cancer Prostatic Dis. 2008)
    72. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (Cancer Res. 2008)
    73. DNA repair gene polymorphisms may be associated with prognosis of upper urinary tract transitional cell carcinoma. (PubMed id 18320070)1, 4 Sasaki M....Naito K. (Neoplasia 2008)
    74. Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans. (PubMed id 18709642)1, 4 Chang J.S....Wiencke J.K. (Int. J. Cancer 2008)
    75. Single nucleotide polymorphisms in nucleotide excision repair genes XPA, XPD, XPG and ERCC1 in advanced colorectal cancer patients treated with first-line oxaliplatin/fluoropyrimidine. (PubMed id 18204222)1, 4 Monzo M....Navarro-Vigo M. (Oncology 2007)
    76. Nucleotide excision repair pathway genes and oral premalignant lesions. (PubMed id 17575242)1, 4 Wang Y....Wu X. (Clin. Cancer Res. 2007)
    77. Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers. (PubMed id 17438655)1, 4 Cheng J....Zheng Y. (Biomarkers 2007)
    78. Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies. (PubMed id 17476281)1, 4 Guillem V.M....Tormo M. (Leukemia 2007)
    79. Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis. (PubMed id 17299578)1, 4 Kiyohara C. and Yoshimasu K. (Int J Med Sci 2007)
    80. The association of DNA repair gene polymorphisms with the development and progression of renal cell carcinoma. (PubMed id 17712032)1, 4 Sakano S....Naito K. (Ann. Oncol. 2007)
    81. Polymorphism discovery in 62 DNA repair genes and haplotype associations with risks for lung and head and neck cancers. (PubMed id 17494052)1, 4 Michiels S....Benhamou S. (Carcinogenesis 2007)
    82. Genetic variation in the DNA repair genes is predictive of outcome in lung cancer. (PubMed id 17855454)1, 4 Matakidou A....Houlston R.S. (Hum. Mol. Genet. 2007)
    83. Moving toward individualized therapy based on NER polymorphisms that predict platinum sensitivity in ovarian cancer patients. (PubMed id 17825393)1, 4 Saldivar J.S....Wu X. (Gynecol. Oncol. 2007)
    84. Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. (PubMed id 16195237)1, 4 Zienolddiny S....Haugen A. (Carcinogenesis 2006)
    85. Association between DNA repair gene polymorphisms and p53 alterations in Japanese patients with muscle-invasive bladder cancer. (PubMed id 17374967)1, 4 Sakano S....Naito K. (Pathobiology 2006)
    86. A single-nucleotide polymorphism in the XPG gene, and tumour stage, grade, and clinical course in patients with nonmuscle-invasive neoplasms of the urinary bladder. (PubMed id 16536785)1, 4 Sakano S....Hemminki K. (BJU Int. 2006)
    87. [Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers]. (PubMed id 17313739)1, 4 Cheng J....Zheng Y.X. (Zhonghua Yu Fang Yi Xue Za Zhi 2006)
    88. Genetic variation in the nucleotide excision repair pathway and bladder cancer risk. (PubMed id 16537713)1, 4 GarcA-a-Closas M....Rothman N. (amp 2006)
    89. Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites: a population-based case-control study. (PubMed id 16399771)1, 4 Mechanic L.E....Keku T. (Carcinogenesis 2006)
    90. Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients. (PubMed id 16646069)1, 4 Le Morvan V....Pourquier P. (Int. J. Cancer 2006)
    91. Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. (PubMed id 16609022)1, 4 Moreno V....Canzian F. (Clin. Cancer Res. 2006)
    92. [Association between genetic polymorphism in xeroderma pigmentosum G gene and risks of laryngeal and hypopharyngeal carcinomas]. (PubMed id 17121236)1, 4 Wen S.X....Lin D.X. (Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2006)
    93. Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut. (PubMed id 16738949)1, 4 Shen M....Rothman N. (Hum. Genet. 2006)
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    231. New insights into the combined Cockayne/xeroderma pigmentosum complex: human XPG protein can function in transcription factor stability. (PubMed id 17466619)9 Friedberg E.C. and Wood R.D. (Mol. Cell 2007)
    232. Tissue specific mutagenic and carcinogenic responses in NER defective mouse models. (PubMed id 16769089)9 Wijnhoven S.W....van Steeg H. (Mutat. Res. 2007)
    233. Exploring DNA damage responses in human cells with recombinant adenoviral vectors. (PubMed id 18042584)9 Armelini M.G....Menck C.F. (amp 2007)
    234. Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage. (PubMed id 17509950)9 Oh K.S....Kraemer K.H. (DNA Repair (Amst.) 2007)
    235. The involvement of ataxia-telangiectasia mutated protein activation in nucleotide excision repair-facilitated cell survival with cisplatin treatment. (PubMed id 16849332)9 Colton S.L....Wang G. (J. Biol. Chem. 2006)
    236. Cockayne's syndrome: a case report. Literature review. (PubMed id 16648759)9 Arenas-Sordo M.d.e. .L....Aldape-Barrios B.C. (Med Oral Patol Oral Cir Bucal 2006)
    237. Altered gene expression in human cells treated with the insecticide diazinon: correlation with decreased DNA excision repair capacity. (PubMed id 16539210)9 Mankame T....Busbee D. (amp 2006)
    238. Thermodynamic cooperativity and kinetic proofreading in DNA damage recognition and repair. (PubMed id 14712076)9 Reardon J.T. and Sancar A. (Cell Cycle 2004)
    239. Decreased nucleotide excision repair activity and alterations of topoisomerase IIalpha are associated with the in vivo resistance of a P388 leukemia subline to F11782, a novel catalytic inhibitor of topoisomerases I and II. (PubMed id 15131057)9 Kruczynski A....Hill B.T. (Clin. Cancer Res. 2004)
    240. Ordered conformational changes in damaged DNA induced by nucleotide excision repair factors. (PubMed id 14981083)9 Tapias A....Egly J.M. (J. Biol. Chem. 2004)
    241. Nucleotide excision repair proteins and their importance for radiation-enhanced transfection. (PubMed id 14555349)9 Nimura Y....Stevens C.W. (Int. J. Radiat. Biol. 2003)
    242. Biochemical analysis of the damage recognition process in nucleotide excision repair. (PubMed id 12486030)9 You J.S....Lee S.H. (J. Biol. Chem. 2003)
    243. Transcription-coupled repair of 8-oxoguanine in human cells and its deficiency in some DNA repair diseases. (PubMed id 14726014)9 Pastoriza Gallego M. and Sarasin A. (Biochimie 2003)
    244. DNA damage and mutations induced by arachidonic acid peroxidation. (PubMed id 14690412)9 Lim P....Termini J. (Biochemistry 2003)
    245. [Effect of benzo[a]pyrene on DNA damage and expression of genes involved in nucleotide excision repair in lung cancer cells]. (PubMed id 14694596)9 Wu X....Ren S. (Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi 2002)
    246. CSB is a component of RNA pol I transcription. (PubMed id 12419226)9 Bradsher J....Egly J.M. (Mol. Cell 2002)
    247. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision- repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. (PubMed id 11443545)9 Graham J.M. Jr....Jaspers N.G.J. (Am. J. Hum. Genet. 2001)
    248. Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK. (PubMed id 10673506)9 AraA_jo S.J....Wood R.D. (amp 2000)
    249. Absence of evidence for allelic loss or allelic gain for ERCC1 or for XPD in human ovarian cancer cells and tissues. (PubMed id 10738106)9 Yu J.J....Reed E. (Cancer Lett. 2000)
    250. DNA repair capacity: inconsistency between effect of over-expression of five NER genes and the correlation to mRNA levels in primary lymphocytes. (PubMed id 11056291)9 Vogel U....Nexo B.A. (Mutat. Res. 2000)
    251. The RAD2 domain of human exonuclease 1 exhibits 5' to 3' exonuclease and flap structure-specific endonuclease activities. (PubMed id 10608837)9 Lee B.-I. and Wilson D.M. III (J. Biol. Chem. 1999)
    252. Order of assembly of human DNA repair excision nuclease. (PubMed id 10373492)9 Wakasugi M. and Sancar A. (J. Biol. Chem. 1999)
    253. Assembly, subunit composition, and footprint of human DNA repair excision nuclease. (PubMed id 9618470)9 Wakasugi M. and Sancar A. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    254. Mechanism of open complex and dual incision formation by human nucleotide excision repair factors. (PubMed id 9351836)9 Evans E....Wood R.D. (EMBO J. 1997)
    255. Analysis of incision sites produced by human cell extracts and purified proteins during nucleotide excision repair of a 1,3-intrastrand d(GpTpG)-cisplatin adduct. (PubMed id 8636155)9 Moggs J.G....Wood R.D. (J. Biol. Chem. 1996)
    256. RPA involvement in the damage-recognition and incision steps of nucleotide excision repair. (PubMed id 7700386)9 He Z....Ingles C.J. (Nature 1995)
    257. Detection of nucleotide excision repair incisions in human fibroblasts by immunostaining for PCNA. (PubMed id 7493631)9 Aboussekhra A. and Wood R.D. (Exp. Cell Res. 1995)
    258. Yeast excision repair gene RAD2 encodes a single-stranded DNA endonuclease. (PubMed id 8247134)9 Habraken Y....Prakash S. (Nature 1993)
    259. Influence of TCDD and natural Ah receptor agonists on benzo[a]pyrene-DNA adduct formation in the Caco-2 human colon cell line. (PubMed id 18065724)9 de Waard P.W....van Schooten F.J. (Mutagenesis 2008)
    260. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. (PubMed id 18470933)9 Boyle J....Kraemer K.H. (Hum. Mutat. 2008)
    261. Characterization of ERCC3 mutations in the Chinese hamster ovary 27-1, UV24 and MMC-2 cell lines. (PubMed id 16143348)9 Hall H....Pirsel M. (Mutat. Res. 2006)
    262. Purification and characterization of Escherichia coli and human nucleotide excision repair enzyme systems. (PubMed id 16793370)9 Reardon J.T. and Sancar A. (Meth. Enzymol. 2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2073 HGNC: 3437 AceView: ERCC5.1 Ensembl:ENSG00000134899 euGenes: HUgn2073
    ECgene: ERCC5 Kegg: 2073 H-InvDB: ERCC5

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ERCC5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERCC5 Genetics and Cytogenetics in Oncology and Haematology
    Allelic variations of the XP geneshttp://www.xpmutations.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ERCC5[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc5/

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