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ERCC5 (xeroderma pigmentosum, complementation group G)

Identity

Other namesXPG (xeroderma pigmentosum, complementation group G)
ERCC5
HGNC (Hugo) ERCC5
LocusID (NCBI) 2073
Location 13q33.1
Location_base_pair Starts at 103498191 and ends at 103528351 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  XPG (13q32-33) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

DNA/RNA

Description 30 kb; 15 exons (from 61 to 1074 bp) and 14 introns (250 to 5763 bp)
Transcription
  • 15 exons
  • Six spliced XPG mRNA isoforms retaining alternatively spliced exons (I,III), full intron retentions (II, VI), partial intron retention (V) and partial exon skipping (IV)
  • Protein

    Description xeroderma pigmentosum group G complementing factor; DNA-repair protein complementing XPG cells
    Function The XPG protein has DNA endonuclease activity without preference for damaged DNA and is responsible for the 3' incision made during Nucleotide Excision Repair (NER). At the site of a lesion NER proteins create a DNA bubble structure over a length of approximately 25 nucleotides and the XPG protein incises the damaged DNA strand 0-2 nucleotides 3' to the ssDNA-dsDNA junction. In most studies the 3'-incision made by the XPG protein appeared to be performed prior to and independently of the 5'-incision by XPF-ERCC1. The XPG protein is required non-enzymatically for subsequent 5=D5incision by the XPF/ERCC1 heterodimer during the NER process. Patients belonging to the XP-G complementation group clinically exhibit heterogeneous symptoms, from mild to very severe, sometimes associated with CS. XP-G cells are almost completely repair-deficient and as UV-sensitive as XP-A cells. About half of the described XPG patients exhibit also CS symptoms. In that case, the XPG protein is also involved in the transcription-coupled repair of oxidative DNA lesions.
    Homology Extensive sequence similarities, in bipartite domain A and B, to products of RAD repair genes of two yeasts, Saccharomyces cerevisae RAD2 and Schizosaccharomyces pombe RAD13

    Mutations

    Germinal 5 XPG sequence alterations: 3 point mutations and two small deletions

    Implicated in

    Entity xeroderma pigmentosum, XP group G / cockayne=D5s syndrome, XP/CS
    Disease Early skin tumours
      

    External links

    Nomenclature
    HGNC (Hugo)ERCC5   3437
    Cards
    AtlasXPGID300
    Entrez_Gene (NCBI)ERCC5  2073  excision repair cross-complementation group 5
    GeneCards (Weizmann)ERCC5
    Ensembl (Hinxton)ENSG00000134899 [Gene_View]  chr13:103498191-103528351 [Contig_View]  ERCC5 [Vega]
    ICGC DataPortalENSG00000134899
    cBioPortalERCC5
    AceView (NCBI)ERCC5
    Genatlas (Paris)ERCC5
    WikiGenes2073
    SOURCE (Princeton)NM_000123
    Genomic and cartography
    GoldenPath (UCSC)ERCC5  -  13q33.1   chr13:103498191-103528351 +  13q22-q34   [Description]    (hg19-Feb_2009)
    EnsemblERCC5 - 13q22-q34 [CytoView]
    Mapping of homologs : NCBIERCC5 [Mapview]
    OMIM133530   278780   
    Gene and transcription
    Genbank (Entrez)AF462447 AK294708 AK299758 AK303558 BC031522
    RefSeq transcript (Entrez)NM_000123
    RefSeq genomic (Entrez)AC_000145 NC_000013 NC_018924 NG_007146 NT_009952 NW_001838084 NW_004929389
    Consensus coding sequences : CCDS (NCBI)ERCC5
    Cluster EST : UnigeneHs.258429 [ NCBI ]
    CGAP (NCI)Hs.258429
    Alternative Splicing : Fast-db (Paris)GSHG0008270
    Alternative Splicing GalleryENSG00000134899
    Gene ExpressionERCC5 [ NCBI-GEO ]     ERCC5 [ SEEK ]   ERCC5 [ MEM ]
    Protein : pattern, domain, 3D structure
    UniProt/SwissProtP28715 (Uniprot)
    NextProtP28715  [Medical]
    With graphics : InterProP28715
    Splice isoforms : SwissVarP28715 (Swissvar)
    Catalytic activity : Enzyme3.1.-.- [ Enzyme-Expasy ]   3.1.-.-3.1.-.- [ IntEnz-EBI ]   3.1.-.- [ BRENDA ]   3.1.-.- [ KEGG ]   
    Domaine pattern : Prosite (Expaxy)XPG_1 (PS00841)    XPG_2 (PS00842)   
    Domains : Interpro (EBI)5-3_exonuclease_C [organisation]   HhH2 [organisation]   PIN_domain-like [organisation]   XPG-I_dom [organisation]   XPG/Rad2_eukaryotes [organisation]   XPG_CS [organisation]   XPG_DNA_repair_N [organisation]  
    Related proteins : CluSTrP28715
    Domain families : Pfam (Sanger)XPG_I (PF00867)    XPG_N (PF00752)   
    Domain families : Pfam (NCBI)pfam00867    pfam00752   
    Domain families : Smart (EMBL)HhH2 (SM00279)  XPGI (SM00484)  XPGN (SM00485)  
    DMDM Disease mutations2073
    Blocks (Seattle)P28715
    Human Protein AtlasENSG00000134899 [gene] [tissue] [antibody] [cell] [cancer]
    Peptide AtlasP28715
    HPRD00595
    Protein Interaction databases
    DIP (DOE-UCLA)P28715
    IntAct (EBI)P28715
    FunCoupENSG00000134899
    BioGRIDERCC5
    InParanoidP28715
    Interologous Interaction database P28715
    IntegromeDBERCC5
    STRING (EMBL)ERCC5
    Ontologies - Pathways
    Ontology : AmiGObubble DNA binding  nucleotide-excision repair, DNA damage removal  DNA catabolic process, endonucleolytic  double-stranded DNA binding  single-stranded DNA binding  endonuclease activity  endodeoxyribonuclease activity  protein binding  nucleus  nucleoplasm  DNA replication factor A complex  holo TFIIH complex  nucleolus  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 3'-to lesion  response to UV  response to UV  UV protection  response to UV-C  DNA-directed RNA polymerase II, holoenzyme  protein homodimerization activity  negative regulation of apoptotic process  intermediate filament cytoskeleton  metal ion binding  protein N-terminus binding  
    Ontology : EGO-EBIbubble DNA binding  nucleotide-excision repair, DNA damage removal  DNA catabolic process, endonucleolytic  double-stranded DNA binding  single-stranded DNA binding  endonuclease activity  endodeoxyribonuclease activity  protein binding  nucleus  nucleoplasm  DNA replication factor A complex  holo TFIIH complex  nucleolus  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair, DNA incision, 3'-to lesion  nucleotide-excision repair, DNA incision, 3'-to lesion  response to UV  response to UV  UV protection  response to UV-C  DNA-directed RNA polymerase II, holoenzyme  protein homodimerization activity  negative regulation of apoptotic process  intermediate filament cytoskeleton  metal ion binding  protein N-terminus binding  
    Pathways : KEGGNucleotide excision repair   
    Protein Interaction DatabaseERCC5
    Wikipedia pathwaysERCC5
    Gene fusion - rearrangments
    Polymorphisms : SNP, mutations, diseases
    SNP Single Nucleotide Polymorphism (NCBI)ERCC5
    snp3D : Map Gene to Disease2073
    SNP (GeneSNP Utah)ERCC5
    SNP : HGBaseERCC5
    Genetic variants : HAPMAPERCC5
    Exome VariantERCC5
    1000_GenomesERCC5 
    ICGC programENSG00000134899 
    Cancer Gene: CensusERCC5 
    Somatic Mutations in Cancer : COSMICERCC5 
    CONAN: Copy Number AnalysisERCC5 
    Mutations and Diseases : HGMDERCC5
    Genomic VariantsERCC5  ERCC5 [DGVbeta]
    dbVarERCC5
    ClinVarERCC5
    Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
    Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
    Diseases
    OMIM133530    278780   
    MedgenERCC5
    GENETestsERCC5
    Disease Genetic AssociationERCC5
    Huge Navigator ERCC5 [HugePedia]  ERCC5 [HugeCancerGEM]
    General knowledge
    Homologs : HomoloGeneERCC5
    Homology/Alignments : Family Browser (UCSC)ERCC5
    Phylogenetic Trees/Animal Genes : TreeFamERCC5
    Chemical/Protein Interactions : CTD2073
    Chemical/Pharm GKB GenePA27851
    Clinical trialERCC5
    Cancer Resource (Charite)ENSG00000134899
    Other databases
    Probes
    ProbeCancer Cytogenetics (Bari)
    Litterature
    PubMed197 Pubmed reference(s) in Entrez
    CoreMineERCC5
    iHOPERCC5
    OncoSearchERCC5

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    PMID 10673506
     
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    PMID 10669734
     
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    PMID 11104904
     
    Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene.
    Sun XZ, Harada YN, Takahashi S, Shiomi N, Shiomi T
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    PMID 11340641
     
    The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.
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    PMID 11266544
     
    Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosome.
    Arajo SJ, Nigg EA, Wood RD
    Molecular and cellular biology. 2001 ; 21 (7) : 2281-2291.
    PMID 11259578
     
    Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.
    Zafeiriou DI, Thorel F, Andreou A, Kleijer WJ, Raams A, Garritsen VH, Gombakis N, Jaspers NG, Clarkson SG
    Pediatric research. 2001 ; 49 (3) : 407-412.
    PMID 11228268
     
    Novel functional interactions between nucleotide excision DNA repair proteins influencing the enzymatic activities of TFIIH, XPG, and ERCC1-XPF.
    Winkler GS, Sugasawa K, Eker AP, de Laat WL, Hoeijmakers JH
    Biochemistry. 2001 ; 40 (1) : 160-165.
    PMID 11141066
     
    Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.
    Berneburg M, Lehmann AR
    Advances in genetics. 2001 ; 43 : 71-102.
    PMID 11037299
     
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    Contributor(s)

    Written05-2001Anne Stary and Alain Sarasin

    Citation

    This paper should be referenced as such :
    Stary, A ; Sarasin, A
    XPG (xeroderma pigmentosum, complementation group G)
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):183-185.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Genes/XPGID300.html

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