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

    Gene ID: 2072, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ERCC4 in Genome Data Viewer
    Location:
    16p13.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (13920137..13952348)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14014011..14046205)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene putative uncharacterized protein encoded by LINC00596 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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    GeneReviews: Not available
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available
    Fanconi anemia, complementation group Q Compare labs
    Genome-wide association study of conduct disorder symptomatology.
    GeneReviews: Not available
    UGT1A1 is a major locus influencing bilirubin levels in African Americans.
    GeneReviews: Not available
    Xeroderma pigmentosum, group F
    MedGen: C0268140 OMIM: 278760 GeneReviews: Xeroderma Pigmentosum
    Compare labs
    XFE progeroid syndrome
    MedGen: C1970416 OMIM: 610965 GeneReviews: Not available
    Compare labs

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    enables TFIID-class transcription factor complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables damaged DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables damaged DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endodeoxyribonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables endodeoxyribonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables promoter-specific chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables single-stranded DNA endodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NOT enables telomerase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in UV protection IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to UV IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of double-stranded telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protection from non-homologous end joining at telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in negative regulation of telomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of telomere maintenance via telomere lengthening IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within nucleotide-excision repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleotide-excision repair involved in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nucleotide-excision repair, DNA incision IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleotide-excision repair, DNA incision, 3'-to lesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleotide-excision repair, DNA incision, 5'-to lesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in nucleotide-excision repair, DNA incision, 5'-to lesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomeric DNA-containing double minutes formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ERCC4-ERCC1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of nucleotide-excision repair complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nucleotide-excision repair factor 1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of nucleotide-excision repair factor 1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_005236.3NP_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, ENST00000311895.8
      Conserved Domains (1) summary
      TIGR00596
      Location:97907
      rad1; DNA repair protein (rad1)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      13920137..13952348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522424.3XP_011520726.1  DNA repair endonuclease XPF isoform X1

      Related
      ENSP00000507912.1, ENST00000682617.1
      Conserved Domains (2) summary
      TIGR00596
      Location:97953
      rad1; DNA repair protein (rad1)
      pfam02732
      Location:732862
      ERCC4; ERCC4 domain
    2. XM_017023043.2XP_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
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