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    ERCC5 excision repair cross-complementation group 5 [ Homo sapiens (human) ]

    Gene ID: 2073, updated on 5-Jul-2015
    Official Symbol
    ERCC5provided by HGNC
    Official Full Name
    excision repair cross-complementation group 5provided by HGNC
    Primary source
    HGNC:HGNC:3437
    See related
    Ensembl:ENSG00000134899; HPRD:00595; MIM:133530; Vega:OTTHUMG00000017310
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201
    Summary
    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]
    Orthologs
    See ERCC5 in Epigenomics, MapViewer
    Location:
    13q33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (102845841..102876001)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103498191..103528351)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene KDEL (Lys-Asp-Glu-Leu) containing 1 Neighboring gene BIVM-ERCC5 readthrough Neighboring gene basic, immunoglobulin-like variable motif containing Neighboring gene RNA, Ro-associated Y5 pseudogene 8 Neighboring gene methyltransferase like 21E, pseudogene Neighboring gene solute carrier family 10 (sodium/bile acid cotransporter), member 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of excision repair cross-complementing rodent repair deficiency, complementation group 5 (ERCC5) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
    • Dual incision reaction in GG-NER, organism-specific biosystem (from REACTOME)
      Dual incision reaction in GG-NER, organism-specific biosystemDual incision at defined positions flanking the DNA damage is carried out by XPG (3' -incision) and ERCC1-XPF (5'-incision) complex. The resulting excised fragment is ~27-30 bp long and contains the...
    • Dual incision reaction in TC-NER, organism-specific biosystem (from REACTOME)
      Dual incision reaction in TC-NER, organism-specific biosystemDual incisions are carried out by XPG, and ERCC1-XPF complex as seen in GG-NER.
    • Formation of incision complex in GG-NER, organism-specific biosystem (from REACTOME)
      Formation of incision complex in GG-NER, organism-specific biosystemBinding of XPC complex to the damaged site on the DNA substrate is followed by XPA and RPA recruitment. XPA is a metalloprotein that binds to different types of DNA damage. Binding of RPA, or Replic...
    • Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystem (from REACTOME)
      Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystemThe 'road block' induced by the DNA damage to the transcription machinery triggers assembly of a transcription couple repair complex, whose composition and function are yet to fully understood. Da...
    • Global Genomic NER (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genomic NER (GG-NER), organism-specific biosystemGG-NER is considered to be transcription-independent, removing lesions from non-transcribed regions of genome in addition to non-transcribed strands of transcribed regions. The three events that char...
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNER was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recovery of DNA synthesis and cell ...
    • Nucleotide excision repair, organism-specific biosystem (from KEGG)
      Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Nucleotide excision repair, conserved biosystem (from KEGG)
      Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Transcription-coupled NER (TC-NER), organism-specific biosystem (from REACTOME)
      Transcription-coupled NER (TC-NER), organism-specific biosystemThe preferential repair of UV-induced damage in transcribed strands of active genes is known as Transcription-coupled NER (TC-NER). Impairment of the ability for TC-NER results in the onset of a sev...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Readthrough BIVM-ERCC5

    Readthrough gene: BIVM-ERCC5, Included gene: BIVM

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    bubble DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endonuclease activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
     
    UV protection IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA damage removal TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision, 3'-to lesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide-excision repair, DNA incision, 3'-to lesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to UV-C IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    colocalizes_with DNA replication factor A complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with DNA-directed RNA polymerase II, holoenzyme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with holo TFIIH complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    DNA repair protein complementing XP-G cells
    Names
    DNA excision repair protein ERCC-5
    XPG-complementing protein
    excision repair cross-complementing rodent repair deficiency, complementation group 5
    xeroderma pigmentosum, complementation group G

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007146.1 RefSeqGene

      Range
      5018..35178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_464

    mRNA and Protein(s)

    1. NM_000123.3NP_000114.2  DNA repair protein complementing XP-G cells

      See identical proteins and their annotated locations for NP_000114.2

      Status: REVIEWED

      Source sequence(s)
      BE223050, BQ002437, DA195001, X69978
      Consensus CDS
      CCDS32004.1
      UniProtKB/Swiss-Prot
      P28715
      Related
      ENSP00000347978, OTTHUMP00000018678, ENST00000355739, OTTHUMT00000045708
      Conserved Domains (3) summary
      cd09904
      Location:849943
      H3TH_XPG; H3TH domain of Xeroderma pigmentosum complementation group G (XPG) nuclease, a structure-specific, divalent-metal-ion dependent, 5' nuclease
      cd09868
      Location:1130
      PIN_XPG; PIN domain of Xeroderma pigmentosum complementation group G (XPG) nuclease, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      TIGR00600
      Location:11029
      rad2; DNA excision repair protein (rad2)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

      Range
      102845841..102876001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      103467640..103497809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)