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Symbol ERCC6 contributors: mct/npt/pgu - updated : 31-08-2016
HGNC name excision repair cross-complementing rodent repair deficiency, complementation group 6
HGNC id 3438
Corresponding disease
COFS1 cerebro-oculo-facio-skeletal syndrome 1
CSB Cockayne syndrome, type B
POF11 premature ovarian failure 11
UVS UV-sensitive syndrome
XPV2 xeroderma pigmentosum variant
Location 10q11.23      Physical location : 50.664.491 - 50.747.147
Synonym name
  • Cockayne syndrome protein CSB
  • ATP-dependent helicase ERCC6
  • DNA excision repair protein ERCC-6
  • Rad26 (yeast) homolog
  • Synonym symbol(s) CSB, RAD26, CKN2, COFS, COFS1, ARMD5, UVSS1
    EC.number 3.6.1.-
    TYPE functioning gene
  • PGBD3 piggyBac transposon inserted into ERCC6 intron 5 early in the primate lineage
  • STRUCTURE 84.64 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 8993 168 1493 - 1992 1339317
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     mouthtongue  highly
    Hearing/Equilibriumear   highly
    Reproductivemale systemtestis  highly
    Respiratorylung   highly
    cell lineage
    cell lines
    at STAGE
  • SNF2 N-terminal domain
  • N-terminal region interacting with the SH3 domain of ABL1, with a conserved protein motif, termed the "leucine latch," at the N terminus
  • acidic domain and glycine-rich stretch
  • bipartite nuclear localization signal
  • helicase conserved C-terminal domain
  • mono polymer dimer
    interspecies homolog to yeast RAD26 (see CKN2)
  • DEAD-like helicase superfamily
  • SNF2/RAD54 helicase family
  • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
  • accumulates at sites of DNA double-strand breaks (DSBs) in a transcription-dependent manner
  • basic FUNCTION
  • playing an important roles in transcription, transcription-coupled nucleotide excision repair and base excision DNA repair
  • Swi/Snf-like RNA/DNA helicase homolog without active helicase activity
  • involved in transcription-coupled and global genome-DNA repair, as well as in general transcription
  • contributing to base excision repair (BER) of 8-hydroxyguanine (OGG1) through motifs V and VI of the putative helicase domains
  • playing a role in the transcriptionnal bypass of some oxidative DNA damage, and implicated in transcription-coupled repair, transcriptional elongation, and restoration of RNA synthesis after DNA damage
  • stimulates elongation of RNA Pol I in an ATP-independent manner
  • recruits nucleotide excision repair factors to the DNA damage site and plays an important role in the repair process
  • playing a general role in maintenance and remodeling of chromatin structure
  • positively cooperates in ATP hydrolysis as a function of protein concentration
  • playing a role in the repair of base excision repair substrates/intermediates, and a specific functional interaction with the predominant AP site repair enzyme, APEX1
  • playing a role in the processing of base excision repair specific DNA substrates, potentially in regions of the genome that take on complex structures
  • has novel strand annealing and exchange activities
  • having a possible role as a signaling molecule in response to oxidative damage (tyrosine-phosphorylated ERCC6 may serve as a signal for repair proteins to localize to DNA damage and may help maintain active transcription in the nucleolus)
  • fulfills a key role as a coupling factor to attract histone acetyltransferase p300, nucleotide excision repair (NER) proteins
  • plays a role in repair of formamidopyrimidines, possibly by interacting with and stimulating NEIL1, and accumulation of such modifications may have a causal role in the pathogenesis of CS
  • ERCC6, ERCC8 are the key elements of a regulatory mechanism that equilibrate beneficial and detrimental effects of TP53 activity upon cellular stress
  • is a multifunctional protein regulating both repair and the transcriptional response to reactive oxygen through its interaction with EP300 and the HIF1 pathway
  • likely modulates cell viability in pluripotent stem cells, regulating the expression of TP53 and TXNIP and ROS production
  • function for ERCC6 in neural precursors
  • role of ERCC6 and ERCC8 protein in the oxidative stress response
  • ERCC6, ERCC8, in addition to their established role in transcription-coupled nucleotide excision repair, can modulate the base excision repair (BER) of oxidized DNA bases both directly (by interaction with BER proteins) and indirectly (by modulating the expression of the DNA repair genes)
  • biological role for ERCC6 and NEIL2 in transcription associated base excision repair
  • has a crucial role in coordinated regulation of transcription and chromatin remodeling activities that are required during neurogenesis
  • appears to behave as an electron scavenger in the mitochondria whose absence leads to increased oxidative stress
  • plays crucial roles in gene expression and the maintenance of genome integrity
  • ERCC6-PGBD3 fusion protein, like many other proteins that can cause POF, modulates or participates in DNA repair
  • critical for transcription-coupled-Nucleotide excision repair
  • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    nucleotide, transcription
    a component
  • component of a complex with RNA pol1, TFIIH (GTF2H*) and XPG (ERCC5)
  • forms a dimer in solution, enzymatically active CSB has an apparent molecular mass of approximately 360 kDa, consistent with dimerization of CSB
    DNA DNA binding domain
    small molecule
  • ERCC3
  • regulating expression of OGG1
  • interacting with PARP1, BRCA1, BRCA2, and TCEB3
  • functional interaction of CSB with the predominant AP site repair enzyme, APEX1
  • interacting with ABL1 (may regulate each other in a reciprocal manner in response to oxidative stress)
  • protects CAG repeats from expansion by either active reduction of the tract length during parent-child transmission, or by antagonizing the action of OGG1, which tends to promote expansion in somatic cells
  • NR2C2 directly regulates ERCC6 at the transcriptional level
  • UVSSA forms a complex with USP7, stabilizes ERCC6 and restores the hypophosphorylated form of RNA polymerase II after UV irradiation
  • ERCC6-PGBD3 fusion protein is important in both health and disease, and could play a role in Cockayne syndrome
  • ERCC6, and NEIL2 were found to physically interact independently of DNA
  • coordinates the resolution of interstrand crosslink , possibly in a transcription-associated repair mechanism involving DCLRE1A, and defects in the process could contribute to the post-mitotic degenerative pathologies associated with Cockayne syndrome
  • ERCC6 protein promotes stable recruitment of the ELOA ubiquitin ligase to sites of DNA damage
  • DGCR8 physically interacted with ERCC6 and RNA polymerase II
  • cell & other
    corresponding disease(s) CSB , XPV2 , COFS1 , UVS , POF11
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in sqamous cell carcinoma of the head and neck
    constitutional germinal mutation      
    mutations in the CSB-PGBD3 fusion protein can cause premature ovarian failure
  • to macular degeneration
  • to smoking-related lung cancer
  • Variant & Polymorphism SNP increasing the risk of macular degeneration (in association with CFH SNPs)
    Candidate gene
    Therapy target