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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ERCC5 Gene

protein-coding   GIFtS: 67
GCID: GC13P103497

Excision Repair Cross-Complementing Rodent Repair Deficiency,...

(Previous names: xeroderma pigmentosum, complementation group G)
(Previous symbols: ERCM2, XPGC)
  See 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)
About This Section

Aliases
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 51 2
     Cockayne Syndrome1
ERCM21 2 3     UVDR2
XPGC1 2 3     DNA Repair Protein Complementing XP-G Cells2
XPG2 3 5     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
COFS32 5     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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-complementing rodent repair deficiency, complementation group 5) is a protein-coding gene. Diseases associated with ERCC5 include xeroderma pigmentosum, group g, and xanthogranulomatous pyelonephritis, and among its related super-pathways are Global Genomic NER (GG-NER) and Nucleotide Excision Repair. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_009952.14  NC_018924.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ERCC5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus
Secondary accessions: A6NGT4 Q5JUS4 Q5JUS5 Q7Z2V3 Q8IZL6 Q8N1B7 Q9HD59
Alternative splicing: 2 isoforms:  P28715-1   P28715-2   

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

Explore proteomics data for ERCC5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28715

  • ERCC5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ERCC5 Protein Expression
    REFSEQ proteins: NP_000114.2  
    ENSEMBL proteins: 
     ENSP00000347978   ENSP00000436083   ENSP00000365121   ENSP00000442117  
    Reactome Protein details: P28715
    Human Recombinant Protein Products for ERCC5: 
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    OriGene MassSpec for ERCC5 
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    GenScript Custom Purified and Recombinant Proteins Services for ERCC5
    Novus Biologicals ERCC5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA8710877
    GO:0005654nucleoplasm TAS--
    GO:0005675colocalizes with holo TFIIH complex IDA11259578
    GO:0016591colocalizes with DNA-directed RNA polymerase II, holoenzyme IDA16246722

    ERCC5 for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 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


    ERCC5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/12 molecular function terms (GO ID links to tree view) (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 ----
         
    ERCC5 for ontologies           About GeneDecksing


    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  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging 

    ERCC5 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ERCC5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ERCC5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERCC5 
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    hsa-miR-590-3p hsa-miR-664
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ERCC5 (NM_000123)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC5


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ERCC5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.70
    Formation of incision complex in GG-NER0.61
    Nucleotide excision repair0.70
    Nucleotide Excision Repair Pathway0.49
    Dual incision reaction in GG-NER0.61
    2Nucleotide Excision Repair
    Nucleotide Excision Repair0.90
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90
    3Formation of RNA Pol II elongation complex
    Dual incision reaction in TC-NER0.64
    Formation of transcription-coupled NER (TC-NER) repair complex0.64
    4Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    8        Reactome Pathways for ERCC5 (see first 5)
        DNA Repair
    Transcription-coupled NER (TC-NER)
    Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER
    Global Genomic NER (GG-NER)
    Nucleotide Excision Repair
    Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


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


    ERCC5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERCC5

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

    5/64 Interacting proteins for ERCC5 (P287152, 3 ENSP000003479784) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0006295nucleotide-excision repair, DNA incision, 3'-to lesion IMP7657672

    ERCC5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ERCC5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about ERCC5

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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:

    AW574626 BQ707436 BQ067419 AW404132 AA708523 AA708780 BF908784 AA161242 
    AA521132 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ERCC5 expression in normal human tissues (normalized intensities)      ERCC5 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             b cells   
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Umbilical Cord (Extraembryonic Tissues)
             stem cells (umbilical cord cd34+)   

    See ERCC5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERCC5

    SOURCE GeneReport for Unigene cluster: Hs.258429
        SABiosciences Expression via Pathway-Focused 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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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ERCC5 gene from 8/19 species (see all 19)    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 75.75(n)1
    69.72(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 63.64(n)
    59.43(a)
      428019  NM_001034823.1  NP_001029995.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    55(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 ercc51 excision repair cross-complementing rodent repair deficiency, more 53.92(n)
    51.63(a)
      541502  XM_003197605.1  XP_003197653.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mus2013
    Chrac-141
    base-excision repair single-stranded
    DNA specific more3
    CG13399-PA1
    41(a)3
    46.08(n)1
    33.62(a)1
      37723291  NM_001032059.11  NP_001027230.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gen-16
    xpg-16
    Protein XPG-1
    29(a)
    22(a)
    many → 1
    possible ortholog
    III(6245924-6248234)
    I(6558700-6562392)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD21 Rad2p 46.28(n)
    33.09(a)
      853174   NP_011774.1 


    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
    Paralogs for ERCC5 gene
    BIVM-ERCC52  
    1 SIMAP similar gene for ERCC5 using alignment to 4 protein entries:     ERCC5_HUMAN (see all proteins):
    BIVM-ERCC5

    ERCC5 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/925 SNPs in ERCC5 are shown (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--------
    VAR_0170964
    Xeroderma pigmentosum complementation group G (XP-G)4--see VAR_0170962 A T mis40--------
    rs1214345721,2
    Cpathogenic184441661(+) ACATCC/TGAAGG 2 R * stg10--------
    rs1214345761,2
    Cpathogenic184448237(+) TAACCA/GCCATG 2 T A mis10--------
    VAR_0463744
    ----see VAR_0463742 G R mis40--------
    VAR_0231254
    ----see VAR_0231252 G Q mis40--------
    VAR_0463754
    ----see VAR_0463752 G R mis40--------
    rs359001941,2
    C--84102210(+) GTGAA-/TT    
       
    /TTTC
    TTTCT
    1 -- int10--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/55 diseases for ERCC5 (see all 55):    About MalaCards
    xeroderma pigmentosum, group g    xanthogranulomatous pyelonephritis    ercc5-related xeroderma pigmentosum    cerebro-oculo-facio-skeletal syndrome
    xeroderma pigmentosum    xeroderma pigmentosum, group c    skin cancer    mutagen sensitivity
    acoustic neuroma    neuroma    pigmentary retinopathy    breast disease
    stomach cancer    soft tissue sarcoma    werner syndrome    follicular lymphoma
    dwarfism    pyelonephritis    diffuse large b-cell lymphoma    conjunctivitis

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

    ERCC5 for disorders           About GeneDecksing

    10/12 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

    PubMed articles for ERCC5 gene, integrated from 9 sources (see all 271):
    (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. (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. (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. (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. (2002)
    5. XPG protein has a structure-specific endonuclease activity. (PubMed id 7651464)1, 2, 9 Cloud K.G.... Park M.S. (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. (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. (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. (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. (2006)
    10. The XPG story. (PubMed id 14726017)1, 2, 9 Clarkson S.G. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/ERCC5
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc5/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ERCC5 gene:
    Search GeneIP for patents involving ERCC5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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