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    ERCC5 ERCC excision repair 5, endonuclease [ Homo sapiens (human) ]

    Gene ID: 2073, updated on 18-Jun-2016
    Official Symbol
    ERCC5provided by HGNC
    Official Full Name
    ERCC excision repair 5, endonucleaseprovided 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
    Location:
    13q33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 motif 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 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. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Dual Incision in GG-NER, organism-specific biosystem (from REACTOME)
      Dual Incision in GG-NER, organism-specific biosystemDouble incision at the damaged DNA strand excises the oligonucleotide that contains the lesion from the open bubble. The excised oligonucleotide is ~27-30 bases long. Incision 5' to the damage site, ...
    • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
      Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
    • Formation of Incision Complex in GG-NER, organism-specific biosystem (from REACTOME)
      Formation of Incision Complex in GG-NER, organism-specific biosystemAfter the XPC complex and the UV-DDB complex bind damaged DNA, a basal transcription factor TFIIH is recruited to the nucleotide excision repair (NER) site (Volker et al. 2001, Riedl et al. 2003). DN...
    • Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genome Nucleotide Excision Repair (GG-NER), organism-specific biosystemThe DNA damage in GG-NER is recognized by the joint action of two protein complexes. The first complex is composed of XPC, RAD23A or RAD23B and CETN2. The second complex, known as the UV-DDB complex,...
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) 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 recove...
    • 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 Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
      Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
    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 
    endodeoxyribonuclease 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 
    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 
    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-complementation group 5
    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 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p7 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)