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FLASH GENE
Symbol ERCC1 contributors: mct/pgu - updated : 06-06-2015
HGNC name excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
HGNC id 3433
Corresponding disease
COFS4 cerebro-oculo-facio-skeletal syndrome 4
Location 19q13.32      Physical location : 45.910.590 - 45.927.177
Synonym name
  • excision repair cross-complementing rodent repair defect in CHO cells
  • excision repair cross-complementing 1
    • Synonym symbol(s) UV20, COFS4, RAD10
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping
    text overlapping ASE-1 by its 3'UTR
    STRUCTURE 71.44 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1291 35.4 323 - 2001 11160918
  • isoform 1
    • 10 - 3400 32.4 297 - 2001 11160918
  • isoform 2
    • - - 3328 - 273 - 2001 11160918
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland highly
     male systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines specific for leukemic blasts
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • zinc finger domain
  • helix hairpin helix motif
  • C-terminal ERCC4 nuclease domain
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast RAD10
    Homologene
    FAMILY
  • ERCC1/RAD10/SWI10 family
    • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,telomere
    basic FUNCTION
  • cleaving at duplex-single-stranded DNA junctions, making an incision on the 5' side of the lesion in nucleotide excision repair
  • playing a role in removal of long non-homologous tails during targeted homologous recombination
  • playing an essential role for DNA binding
  • playing a role after creation of a double strand break for full activation of the Fanconi anemia pathway
  • participates in the Fanconi anemia pathway of cross-link repair
  • needed for stabilizing and enhancing ERCC4 endonuclease activity
  • new role for ERCC1 distinct from its known function in DNA repair, which may be independent of XRCC4 and its role in mitotic progression may be critical during development
  • removes cisplatin-induced DNA adducts and has been related with prognosis and cisplatin response
  • 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
  • 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
    • CELLULAR PROCESS nucleotide, recombination
    nucleotide, repair, nucleotide excision repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming a structure specific DNA endonuclease complex with ERCC4/XPF at sites of DNA damage, required for completion of homologous recombination at DNA replication forks stalled by inter-strand cross-links
  • complexing with XPA (complex essential for nucleotide excision repair activity)
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • collaboration between DCLRE1A and ERCC4-ERCC1 is necessary to initiate ICL repair in replicating human cells
  • interaction between ERCC1 and XPA is essential for a successful NER function
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COFS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in sqamous cell carcinoma of the head and neck
    tumoral     --over  
    associated to overexpression of RRM1, in early-stage non-small-cell lung cancer with excellent outcome
    tumoral     --over  
    might be a favourable prognostic and a drug resistance predictive factor for non-small cell lung cancer
    constitutional       loss of function
    leading to downregulation of forebrain cholesterol biosynthesis genes
    Susceptibility
  • to melanoma
  • to poor prognosis of non-small cell lung cancer
    • Variant & Polymorphism other
  • significant associations with the strongest associations for melanoma cases aged 50 and under
  • ERCC1 C8092A polymorphism may influence the non-small cell lung cancer patients prognosis regardless of the ERCC1 protein expression and platinum sensitivity
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ercc1-knockout mice, survive for up to 4 weeks after birth
  • Ercc1 deficient mice show severe growth retardation associated with premature replicative senescence leading to liver failure and death at four weeks of age