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

    Gene ID: 2072, updated on 10-Oct-2024

    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; AllianceGenome:HGNC:3436
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ERCC4 in Genome Data Viewer
    Location:
    16p13.12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (13920154..13952348)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (13957393..13989586)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (14014011..14046205)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903646 Neighboring gene Sharpr-MPRA regulatory region 11413 Neighboring gene uncharacterized LOC105371093 Neighboring gene uncharacterized LOC124903647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10487 Neighboring gene ribosomal protein S26 pseudogene 52 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7223 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:14050534-14051733 Neighboring gene long intergenic non-protein coding RNA 2185 Neighboring gene long intergenic non-protein coding RNA 2186 Neighboring gene myocardin related transcription factor B

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    Fanconi anemia complementation group Q
    MedGen: C3808988 OMIM: 615272 GeneReviews: Fanconi Anemia
    Compare labs
    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

    EBI GWAS Catalog

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

    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

    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 
    contributes_to DNA endonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA endonuclease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA endonuclease activity IMP
    Inferred from Mutant Phenotype
    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
     
    enables damaged DNA binding 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 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    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 protection from non-homologous end joining at telomere IMP
    Inferred from Mutant Phenotype
    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 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
     
    involved_in nucleotide-excision repair involved in interstrand cross-link repair IDA
    Inferred from Direct Assay
    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
     
    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 
    part_of ERCC4-ERCC1 complex IPI
    Inferred from Physical Interaction
    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
     
    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
      A5PKV6, A8K111, O00140, Q8TD83, Q92889
      UniProtKB/TrEMBL
      A0A1W1GSK9, A0A1W1GST9
      Related
      ENSP00000310520.7, ENST00000311895.8
      Conserved Domains (1) summary
      TIGR00596
      Location:97907
      rad1; DNA repair protein (rad1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      13920154..13952348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522424.4XP_011520726.1  DNA repair endonuclease XPF isoform X1

      UniProtKB/TrEMBL
      A0A1W1GST9, A0A804HKF9
      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_047433774.1XP_047289730.1  DNA repair endonuclease XPF isoform X2

    3. XM_011522427.2XP_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 T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      13957393..13989586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379810.1XP_054235785.1  DNA repair endonuclease XPF isoform X1

    2. XM_054379811.1XP_054235786.1  DNA repair endonuclease XPF isoform X2

    3. XM_054379812.1XP_054235787.1  DNA repair endonuclease XPF isoform X3