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    ERCC4 ERCC excision repair 4, endonuclease catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 2072, updated on 17-Feb-2018
    Official Symbol
    ERCC4provided by HGNC
    Official Full Name
    ERCC excision repair 4, endonuclease catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:3436
    See related
    Ensembl:ENSG00000175595 MIM:133520; Vega:OTTHUMG00000048194
    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
    XPF; RAD1; FANCQ; XFEPS; ERCC11
    Summary
    The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in testis (RPKM 4.4), thyroid (RPKM 2.5) and 25 other tissues See more
    Orthologs
    Location:
    16p13.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (13920138..13952348)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14014014..14046205)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene shisa family member 9 Neighboring gene TATA element modulatory factor 1 pseudogene 1 Neighboring gene uncharacterized LOC105371093 Neighboring gene ribosomal protein S26 pseudogene 52 Neighboring gene long intergenic non-protein coding RNA 2185 Neighboring gene long intergenic non-protein coding RNA 2186

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    NHGRI GWA Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Genome-wide association study of conduct disorder symptomatology.
    NHGRI GWA Catalog
    UGT1A1 is a major locus influencing bilirubin levels in African Americans.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr Co-immunoprecipitation and glycerol-gradient sedimentation demonstrate that HIV-1 Vpr, VPRBP, DDB1, SLX4, MUS81, EME1, ERCC1, and ERCC4 form a complex PubMed

    Go to the HIV-1, Human Interaction Database

    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • 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...
    • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
      Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • 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,...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • 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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to 3' overhang single-stranded DNA endodeoxyribonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    TFIID-class transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    damaged DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endodeoxyribonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT telomerase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    UV protection IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to UV IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    global genome nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    interstrand cross-link repair TAS
    Traceable Author Statement
    more info
     
    negative regulation of double-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of protection from non-homologous end joining at telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT negative regulation of telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of telomere maintenance via telomere lengthening IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair involved in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleotide-excision repair, DNA incision IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide-excision repair, DNA incision TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision, 3'-to lesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair, DNA incision, 3'-to lesion TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, DNA incision, 5'-to lesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleotide-excision repair, DNA incision, 5'-to lesion TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair, preincision complex stabilization TAS
    Traceable Author Statement
    more info
     
    resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomeric DNA-containing double minutes formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ERCC4-ERCC1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleotide-excision repair complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleotide-excision repair factor 1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor TFIID complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    DNA repair endonuclease XPF
    Names
    DNA excision repair protein ERCC-4
    DNA repair protein complementing XP-F cells
    excision repair cross-complementation group 4
    excision repair cross-complementing rodent repair deficiency, complementation group 4
    excision-repair, complementing defective, in Chinese hamster
    xeroderma pigmentosum group F-complementing protein
    xeroderma pigmentosum, complementation group F

    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_011442.1 RefSeqGene

      Range
      5001..37192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_463

    mRNA and Protein(s)

    1. NM_005236.2NP_005227.1  DNA repair endonuclease XPF

      See identical proteins and their annotated locations for NP_005227.1

      Status: REVIEWED

      Source sequence(s)
      AC010401, AI470593, AK289726, U64315
      Consensus CDS
      CCDS32390.1
      UniProtKB/Swiss-Prot
      Q92889
      UniProtKB/TrEMBL
      A0A1W1GSK9
      Related
      ENSP00000310520.7, OTTHUMP00000045868, ENST00000311895.7, OTTHUMT00000109634
      Conserved Domains (1) summary
      TIGR00596
      Location:97907
      rad1; DNA repair protein (rad1)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      13920138..13952348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522424.2XP_011520726.1  DNA repair endonuclease XPF isoform X1

      Conserved Domains (2) summary
      TIGR00596
      Location:97953
      rad1; DNA repair protein (rad1)
      pfam02732
      Location:732862
      ERCC4; ERCC4 domain
    2. XM_017023043.1XP_016878532.1  DNA repair endonuclease XPF isoform X2

      Conserved Domains (2) summary
      TIGR00596
      Location:2644
      rad1; DNA repair protein (rad1)
      pfam02732
      Location:423553
      ERCC4; ERCC4 domain
    3. XM_011522427.1XP_011520729.1  DNA repair endonuclease XPF isoform X3

      See identical proteins and their annotated locations for XP_011520729.1

      UniProtKB/TrEMBL
      B4DXD8
      Conserved Domains (2) summary
      TIGR00596
      Location:3457
      rad1; DNA repair protein (rad1)
      pfam02732
      Location:236366
      ERCC4; ERCC4 domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      14013994..14046211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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