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FLASH GENE
Symbol XPC contributors: mct - updated : 18-01-2016
HGNC name xeroderma pigmentosum, complementation group C
HGNC id 12816
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 3729 105 940 - 2006 17154534
16 - 3618 - 903 - 2006 17154534
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveintestinesmall intestine  highly
Nervousbrain    
Reproductivemale systemprostate   
Respiratoryrespiratory tracttrachea  highly
Urinarykidney    
Visualeyeanterior segment  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectiveadipose  highly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a BRCT adaptor domain (BRCA1 C terminus)
  • C-terminal portion of having critical interactions with DNA, RAD23B, CETN2
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Xpc (79.5pc)
    Homologene
    FAMILY
  • XPC family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • playing a part in DNA damage recognition and/or in altering chromatin structure to allow access by damage-processing enzymes
  • playing a key role in DNA damage recognition in global genome nucleotide excision repair
  • its ubiquitylation-independant degradation is required for efficient nucleotide excision repair
  • participates in the initial recognition of DNA damage during the DNA nucleotide excision repair process in global genomic repair
  • multidomain protein critical for the sensing of aberrant DNA and initiation of global genome nucleotide excision repair
  • involved in the first step of nucleotide excision repair, with multiple functional roles including DNA damage recognition and recruitment of the repair machinery
  • involved in genome maintenance through multiple pathways in different tissues
  • DDB2 and XPC, two early UV damage recognition factors, are required for the damage-specific ATR and ATM recruitment and phosphorylation
  • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component p125 (125kDa) of genome overall nucleotide excision repair complex, in tight association with UBE3B (RAD23B), not involved in the transmission coupled reparation of active genes
  • forms a strong heterotrimeric complex with RAD23B and centrin 2 (CETN2)
  • INTERACTION
    DNA binding to single-stranded DNA and damaged DNA
    RNA
    small molecule
    protein
  • binding to the putative human homolog of S.cerevisiae Rad23p
  • interactiong with CETN2 (localization of centrin-2 within the nucleus depends on its ability to bind to the XPC protein)
  • interacting with RAD23B, to recognize DNA damage in global genomic repair
  • RAD23A, RAD23B facilitate lesion recognition by XPC but do not participate in the downstream DNA repair process
  • RNF111 promoted ubiquitylation of SUMOylated XPC (xeroderma pigmentosum C) protein, a central DNA damage recognition factor in nucleotide excision repair (NER)
  • XPC allows DDB2 to initiate multiple rounds of repair events, thereby contributing to the persistence of cellular DNA repair capacity
  • CDH1 promotes nucleotide excision repair through positively regulating the expression of xeroderma pigmentosum complementation group C (XPC) and DNA damage-binding protein 1 (DDB1)
  • PARP1 plays an additional DDB2-independent direct role in recruitment and stabilization of XPC at the UV-induced DNA lesions to promote nucleotide excision repair (GG-NER)
  • cell & other
    REGULATION
    Other positively regulated by the interaction of CDKN2A with the E2F4-p130 repressor complex, preventing it from association with the XPC promoter
    ASSOCIATED DISORDERS
    corresponding disease(s) XPC
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in lung cancer cells, suppresses cell/tumor metastatic ability via repression of matrix metalloproteinase-1 (MMP1) transcription by TP53 (
    Susceptibility
  • to squamous cell carcinoma of the head and neck
  • for breast, bladder, head and neck, and lung cancer
  • to cervical cancer risk
  • Variant & Polymorphism other
  • polyAT polymorphism
  • polymorphisms in XPC may represent low-penetrance susceptibility gene variants for breast, bladder, head and neck, and lung cancer
  • polymorphisms and haplotypes in XPC appear to influence cervical cancer risk and may modify risk attributable to tobacco usage
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS