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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
    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
    Physical map
    CLPTM1 19q13.2 cleft lip and palate associated transmembrane protein 1 RELB 19q13.32 v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (avian) SFRS16 19q13.3 splicing factor, arginine/serine-rich 16 (suppressor-of-white-apricot homolog, Drosophila) ZNF342 19q13.32 zinc finger protein 342 GEMIN7 19q13.32 gem (nuclear organelle) associated protein 7 EIF5AP3 19q13.2 eukaryotic translation initiation factor 5A pseudogene 3 LOC284352 19q13.32 hypothetical protein LOC284352 FLJ33600 19q13.32 FLJ33600 protein MGC2650 19q13.32 hypothetical protein MGC2650 LOC388552 19 similar to BC043666 protein XTP7 19q13.32 protein 7 transactivated by hepatitis B virus X antigen (HBxAg) MARK4 19q13.2 MAP/microtubule affinity-regulating kinase 4 CKM 19q13.2 creatine kinase, muscle LOC390943 19 similar to 40S ribosomal protein S16 KLC2L 19q13.3 similar to 40S ribosomal protein S16 ERCC2 19q13.3 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) RAI 19q13.32 RelA-associated inhibitor ASE-1 19q13.3 RelA-associated inhibitor ERCC1 19q13.3 excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) FOSB 19q13.3 FBJ murine osteosarcoma viral oncogene homolog B RTN2 19q13.3 reticulon 2 VASP 19q13.2-q13.3 vasodilator-stimulated phosphoprotein FLJ40125 19q13.32 hypothetical protein FLJ40125 OPA3 19q13.32 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) GPR4 19q13.3 G protein-coupled receptor 4 EML2 19q13.32 echinoderm microtubule associated protein like 2 GIPR 19q13.3 gastric inhibitory polypeptide receptor SNRPD2 19q13.2 small nuclear ribonucleoprotein D2 polypeptide 16.5kDa FLJ20084 19q13.32 hypothetical protein FLJ20084 20D7-FC4 LOC388553 19 LOC388553 SIX5 19q13.3 sine oculis homeobox homolog 5 (Drosophila) DMPK 19q13.3 dystrophia myotonica-protein kinase DMWD 19q13.3 dystrophia myotonica-containing WD repeat motif RSHL1 19q13.3 radial spokehead-like 1 SYMPK 19q13.32 symplekin
    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
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland highly
     male systemprostate   
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines specific for leukemic blasts
    at STAGE
  • zinc finger domain
  • helix hairpin helix motif
  • C-terminal ERCC4 nuclease domain
  • mono polymer heteromer , dimer
    interspecies homolog to yeast RAD10
  • ERCC1/RAD10/SWI10 family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    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
    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)
    DNA binding
    small molecule
  • 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
    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
  • 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
    Therapy target
  • 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