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FLASH GENE
Symbol ERCC1 contributors: SGE/npt - updated : 30-06-2009
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
    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
    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
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1291 35.4 323 - Van Duin (1986), Ahmad (2010)
  • isoform 1
    • 10 - 3400 32.4 297 - Ahmad (2010)
  • isoform 2
    • - - 3328 - 273 - Ahmad (2010)
    EXPRESSION
    Type widely
    constitutive of
       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 (Ciccia 2007)
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast RAD10
    Homologene
    FAMILY
  • ERCC1/RAD10/SWI10 family
    • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    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 (Bhagwat 2009)
    • 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 (Al-Minawi 2009)
  • complexing with XPA (complex essential for nucleotide excision repair activity) (Orelli 2010)
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • collaboration between DCLRE1A and ERCC4-ERCC1 is necessary to initiate ICL repair in replicating human cells
    • 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
    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 (Povey 2007)
  • ERCC1 C8092A polymorphism may influence the non-small cell lung cancer patients prognosis regardless of the ERCC1 protein expression and platinum sensitivity (Takenaka 2009)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS