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FLASH GENE
Symbol ERCC4 contributors: mct/npt - updated : 06-06-2016
HGNC name excision repair cross-complementing rodent repair deficiency, complementation group 4
HGNC id 3436
Corresponding disease
FANCQ Fanconi anemia, complementation group Q
XFEP progeroid syndrome with XPF defect
XPF xeroderma pigmentosum, complementation group F
Location 16p13.12      Physical location : 14.014.013 - 14.046.205
Synonym name
  • cross-complementing rodent repair defect in CHO cells, complementation group 4 and group 11
  • DNA excision repair protein ERCC-4
  • DNA repair protein complementing XP-F cells
  • Synonym symbol(s) RAD1, ERCC11, XPF, FANCQ
    EC.number 3.1.-.-
    DNA
    TYPE functioning gene
    STRUCTURE 32.19 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - ERCC4 , D16S215 - D16S213 - D16S53 - D16S214 , ERCC4 - D16S3 - D16S96 - cen
    Authors Liu (93)
    Physical map
    FLJ21777 16p13.13 hypothetical protein FLJ21777 HSPC055 16p13-p12 zinc-finger protein AY163807 LOC388212 16 LOC388212 DKFZP564M182 16p13.13 DKFZP564M182 protein GSPT1 16p13.13 G1 to S phase transition 1 COX6CP1 16p12 cytochrome c oxidase subunit VIc pseudogene 1 LOC348151 16p13.13 similar to nuclear pore complex interacting protein TNFRSF17 16p13.1 tumor necrosis factor receptor superfamily, member 17 FLJ12363 16p13.13 hypothetical protein FLJ12363 LOC92017 16p13.13 similar to RIKEN cDNA 4933437K13 LOC388213 16 LOC388213 FLJ11151 16p13.13 hypothetical protein FLJ11151 LOC390675 16 similar to TATA element modulatory factor 1 ERCC4 16p13.13 excision repair cross-complementing rodent repair deficiency, complementation group 4 MRTF-B 16p13.13 myocardin-related transcription factor B CGI-148P 16p13 CGI-148 protein pseudogene LOC388214 16 LOC388214 PARN 16p13 poly(A)-specific ribonuclease (deadenylation nuclease) BFAR 16p13.2 bifunctional apoptosis regulator PLA2G10 16p13.1-p12 phospholipase A2, group X PKD1P3 16p13.3 phospholipase A2, group X NPIP 16q13.1 nuclear pore complex interacting protein LOC123803 RRN3 16p12 RNA polymerase I transcription factor RRN3 PKD1P6 16p13.3 RNA polymerase I transcription factor RRN3 LOC388215 16 similar to hypothetical protein LOC339047 FLJ39599 16p13.13 hypothetical protein FLJ39599 BC008967 16p13.13 hypothetical gene BC008967 LOC388216 16 LOC388216 LKAP 16p13.13 limkain b1 NDE1 16p13.11 nudE nuclear distribution gene E homolog 1 (A. nidulans) MYH11 16p13.12 myosin, heavy polypeptide 11, smooth muscle FLJ31153 16p13.13-p13.12 hypothetical protein FLJ31153 LOC390676 16 similar to 60S ribosomal protein L15 ABCC1 16p13.1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 6765 - 916 - 2012 22771116
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systembreastmammary gland highly
     male systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal binding DNA
  • a C terminal region binding ERCC1 with two leucine zipper domains
  • HOMOLOGY
    interspecies homolog to yeast RAD1
    homolog to Drosophila eukaryotic DNA repair and recombination proteins MEI-9
    homolog to yeast S.cerevisiae RAD16
    intraspecies homolog to ERCC11
    Homologene
    FAMILY
  • XPF family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,telomere
    basic FUNCTION
  • single strand DNA endonuclease, binding and hydrolyzing DNA contributing to the junction-specific endonuclease activity observed during DNA repair and recombination events
  • involved in transcription-coupled repair (TCR) of oxidative lesions
  • ERCC1/ERCC4 is a heterodimeric, structure-specific endonuclease that cleaves single-stranded/double-stranded DNA junctions and has roles in nucleotide excision repair (NER), interstrand crosslink (ICL) repair, homologous recombination, and possibly other pathways
  • NER factors ERCC5 and ERCC4 are essential for establishing CTCF-dependent chromatin looping between the promoter and terminator of the activated RARB2 gene
  • ERCC5 endonuclease promotes DNA breaks and DNA demethylation at promoters allowing the recruitment of CTCF and gene looping, which is further stabilized by ERCC4
  • plays an important role in nucleotide excision repair and participates in removal of DNA interstrand cross-links and DNA double-strand breaks
  • DCLRE1C and ERCC4-ERCC1 can also induce stalled DNA replication forks cleavage through non-epistatic pathways all along S and G2 phases of the cell cycle
  • MUS81 and ERCC4 are a subset of Structure-specific endonucleases (SSEs) that resolve aberrant replication structures
  • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    nucleotide-excision repair
    a component
  • structure specific DNA endonuclease complex with ERCC1, ERCC4-ERCC1 is a nuclease that plays a critical role in DNA repair (Ahmad 2010)
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • ERCC1 binding (participating in nucleotide excision repair and homology-dependent recombination reactions, including DNA single strand annealing and gene targeting)
  • RAD52 interacting with XPF/ERCC1 is the active species that processes recombination intermediates generated during the repair of DNA double strand breaks and in homology-dependent gene targeting events
  • collaboration between DCLRE1A and ERCC4-ERCC1 is necessary to initiate ICL repair in replicating human cells
  • ERCC4, ERCC5 are essential for establishing CTCF-dependent chromatin looping between the promoter and terminator of the activated RARB2 gene
  • Rapid Replication Fork Breakage (RRFB) mediated by DCLRE1C and ERCC4 in response to DNA replication stress (DRS) contributes to DNA replication efficiency and limit chromosomal instability
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) XPF , XFEP , FANCQ
    Susceptibility
  • to lung cancer
  • to cutaneous melanoma
  • to squamous cell carcinoma of the head and neck (SCCHN)
  • Variant & Polymorphism other
  • polymorphism rs3136038 on the promotor region of ERCC4 may contribute to the etiology of lung cancer (Shao 2008)
  • significant associations with the strongest associations for melanoma cases aged 50 and under (POvey 2007)
  • two SNPs (rs2276466 and rs3136038) in ERCC4 may be functional and contribute to SCCHN susceptibility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS