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FLASH GENE
Symbol ERCC3 contributors: mct/pgu - updated : 30-08-2015
HGNC name excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)
HGNC id 3435
Corresponding disease
TTDP2 trichothiodystrophy photosensitive 2
XPB xeroderma pigmentosum, complementation group B
Location 2q14.3      Physical location : 128.014.865 - 128.051.752
Synonym name
  • excision repair cross-complementing rodent repair defect in CHO cells
  • DNA repair protein complementing XP-B cells
  • TFIIH 89 kDa subunit
  • basic transcription factor 2 89 kDa subunit
  • xeroderma pigmentosum, complementation group B
    • Synonym symbol(s) HELD, RAD25, BTF2, GTF2H, TFIIH, BTF2-p89, XPB
    EC.number 3.6.4.12
    DNA
    TYPE functioning gene
    STRUCTURE 36.89 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure a CpG island with several putative GC boxes in the promoter region,the first exon and the first intron
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2751 89 782 - 2004 15549133
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    Skin/Tegumentskin appendageshairfollicle highly Homo sapiensAdult
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentmelanocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four domains: an N-terminal domain
  • two conserved helicase domains (HD1 and HD2)
  • one helicase ATP-binding domain
  • one helicase C-terminal domain
  • a C-terminal extension
    • HOMOLOGY
    interspecies homolog to yeast RAD25
    homolog to Drosophila haywire
    homolog to murine Ercc3 (95.9pc)
    homolog to rattus Ercc3 (95.9pc)
    intraspecies homolog to D discoidum REPB
    Homologene
    FAMILY
  • helicase family
  • RAD25/XPB subfamily
    • CATEGORY enzyme , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • ATP dependent 3'-5' DNA helicase (nucleotide excision repair), involved in transcription-coupled repair (TCR) of oxidative lesions
  • involved in the accumulation of TFIIH complex to sites of DNA damage
  • when complexed to CAK, involved in RNA transcription by RNA pol II
  • acting by opening either around the RNA transcription start site or the DNA damage
  • with ERCC2, are central genome caretakers involved in nucleotide excision repair (NER), although their respective role within this DNA repair pathway remains difficult to delineate
  • role in cell cycle regulation, and may be the structural basis for a long known, but hitherto unexplained interaction between ERCC3 and TUBG1
  • ERCC3 and ERCC2 are part of the TFIIH complex which mediates basal transcription and DNA nucleotide excision repair
  • DNA-dependent helicase and a subunit of the TFIIH complex required for both transcription and DNA repair
    • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    nucleotide-excision repair
    a component
  • component of the basal transcription factor TFIIH, one of the six subunits
    • INTERACTION
    DNA binding
    RNA
    small molecule nucleotide,
  • ATP/GTP binding
    • protein
  • interacting with PUF60
  • interacting with EBNA2
  • interacting with the TFIIH p52 subunit and thus stimulating the ATPase activity of ERCC3
  • interacting with COPS2 (interacting within a network of proteins involved in transcriptional regulation, DNA repair, and cell cycle including nucleophosmin, TRIP11, as well as CRSP3)
  • interacts with the centrosomal protein gamma-tubulin TUBG1
  • C1D facilitates ERCC3 DNA repair through direct interaction with ERCC3
  • GTF2E2 is essential for transcription initiation by RNA polymerase II (RNA pol II) via direct interaction with the basal transcription/DNA repair factor IIH (ERCC3)
  • ERCC3 interacts functionally with KAT2A, a histone acetyltransferase (HAT) that belongs to the hSAGA and hATAC complexes
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) XPB , TTDP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    decreasing GTF2H activity in XPB patients
    tumoral     --low  
    in sqamous cell carcinoma of the head and neck
    constitutional       loss of function
    associated with non-pigmented hair fiber growth
    constitutional       loss of function
    in functional ERCC3 paradoxically renders cells more sensitive to the genotoxic effects of oxidative stress while reducing the cytotoxic effects
    Susceptibility for TTDA (trichothiodystrophy type A)
    Variant & Polymorphism
  • genetic variation of ERCC3 may contribute to benzene-induced haemotoxicity at relatively low levels of benzene exposure
    • Candidate gene
  • influences recruitment and redistribution of NER proteins at sites of UV-induced DNA damage and thus may contribute to the markedly increased frequency of skin cancer in XP patients
    • Marker
    Therapy target
    ANIMAL & CELL MODELS