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XPC (xeroderma pigmentosum, complementation group C)

Identity

Other namesXPCC xeroderma pigmentosum, complementation group C
HGNC (Hugo) XPC
LocusID (NCBI) 7508
Location 3p25.1
Location_base_pair Starts at 14186648 and ends at 14220172 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

Description 17703 bp; 16 exons
Transcription 3558 b mRNA

Protein

Description 939 amino acids
Expression ubiquitous
Localisation nuclear
Function Involved in the early recognition of DNA damage present in chromatine. Two proteins have been identified and implicated in (one of) the first steps of NER, i.e. the recognition of lesions in the DNA: the XPA gene product and the XPC gene product in complex with HR23B. This XPC-HR23B complex has been implicated in DNA damage recognition, especially the cyclobutane pyrimidine dimers induced by UV-light. XPC cells have low Nucleotide Excision Repair (NER) repair capacity, but the residual repair has been shown to occur specifically in transcribed genes. It is very likely that the XPC-HR23B complex is the principal damage recognition complex i.e. essential for the recognition of DNA lesions in the genome. Binding of XPC-HR23B to a DNA lesion causes local unwinding, so that the XPA protein can bind and the whole repair machinery can be loaded onto the damaged site. The XPC-HR23B complex is only required for global genome repair. In case of transcription coupled repair when an RNA polymerase is stalled at a lesion, the DNA is unwound by the transcription complex and XPA can bind independently of XPC-HR23B complex.
Homology MGI : Xpc (Nb 103557)

Mutations

Germinal 19 mutated sites involved in the XP group C syndrome ( XPC), 95% of these mutations (non sense, frameshift, deletion or splice site mutations) give rise to truncated proteins indicating that the XPC gene is not essential for viability

Implicated in

Entity Xeroderma pigmentosum XPC
Disease predisposition to skin cancer: early skin tumours
  

External links

Nomenclature
HGNC (Hugo)XPC   12816
Cards
AtlasXPCID122
Entrez_Gene (NCBI)XPC  7508  xeroderma pigmentosum, complementation group C
GeneCards (Weizmann)XPC
Ensembl (Hinxton)ENSG00000154767 [Gene_View]  chr3:14186648-14220172 [Contig_View]  XPC [Vega]
ICGC DataPortalENSG00000154767
AceView (NCBI)XPC
Genatlas (Paris)XPC
WikiGenes7508
SOURCE (Princeton)NM_001145769 NM_004628
Genomic and cartography
GoldenPath (UCSC)XPC  -  3p25.1   chr3:14186648-14220172 -  3p25   [Description]    (hg19-Feb_2009)
EnsemblXPC - 3p25 [CytoView]
Mapping of homologs : NCBIXPC [Mapview]
OMIM278720   613208   
Gene and transcription
Genbank (Entrez)AI091587 AK222844 AK289761 AK295711 AK311039
RefSeq transcript (Entrez)NM_001145769 NM_004628
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NG_011763 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)XPC
Cluster EST : UnigeneHs.739296 [ NCBI ]
CGAP (NCI)Hs.739296
Alternative Splicing : Fast-db (Paris)GSHG0021539
Alternative Splicing GalleryENSG00000154767
Gene ExpressionXPC [ NCBI-GEO ]     XPC [ SEEK ]   XPC [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01831 (Uniprot)
NextProtQ01831  [Medical]
With graphics : InterProQ01831
Splice isoforms : SwissVarQ01831 (Swissvar)
Domains : Interpro (EBI)DNA_repair_Rad4    DNA_repair_Rad4_subgr    Rad4/PNGase_transGLS-fold    Rad4_beta-hairpin_dom1    Rad4_beta-hairpin_dom2    Rad4_beta-hairpin_dom3   
Related proteins : CluSTrQ01831
Domain families : Pfam (Sanger)BHD_1 (PF10403)    BHD_2 (PF10404)    BHD_3 (PF10405)    Rad4 (PF03835)   
Domain families : Pfam (NCBI)pfam10403    pfam10404    pfam10405    pfam03835   
Domain families : Smart (EMBL)BHD_1 (SM01030)  BHD_2 (SM01031)  BHD_3 (SM01032)  
DMDM Disease mutations7508
Blocks (Seattle)Q01831
PDB (SRS)2A4J    2GGM    2OBH   
PDB (PDBSum)2A4J    2GGM    2OBH   
PDB (IMB)2A4J    2GGM    2OBH   
PDB (RSDB)2A4J    2GGM    2OBH   
Human Protein AtlasENSG00000154767
Peptide AtlasQ01831
HPRD02046
IPIIPI00156793   IPI00954792   IPI01009822   IPI00954918   IPI00924991   IPI00794652   IPI00984841   
Protein Interaction databases
DIP (DOE-UCLA)Q01831
IntAct (EBI)Q01831
FunCoupENSG00000154767
BioGRIDXPC
IntegromeDBXPC
STRING (EMBL)XPC
Ontologies - Pathways
QuickGOQ01831
Ontology : AmiGOheteroduplex DNA loop binding  bubble DNA binding  nucleotide-excision repair, DNA damage recognition  nucleotide-excision repair, DNA damage recognition  nucleotide-excision repair, DNA damage removal  damaged DNA binding  single-stranded DNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  plasma membrane  DNA repair  nucleotide-excision repair  nucleotide-excision repair  response to UV-B  intra-S DNA damage checkpoint  response to drug  extracellular vesicular exosome  XPC complex  regulation of mitotic cell cycle phase transition  
Ontology : EGO-EBIheteroduplex DNA loop binding  bubble DNA binding  nucleotide-excision repair, DNA damage recognition  nucleotide-excision repair, DNA damage recognition  nucleotide-excision repair, DNA damage removal  damaged DNA binding  single-stranded DNA binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  plasma membrane  DNA repair  nucleotide-excision repair  nucleotide-excision repair  response to UV-B  intra-S DNA damage checkpoint  response to drug  extracellular vesicular exosome  XPC complex  regulation of mitotic cell cycle phase transition  
Pathways : KEGGNucleotide excision repair   
REACTOMEQ01831 [protein]
REACTOME PathwaysREACT_216 DNA Repair [pathway]
Protein Interaction DatabaseXPC
Wikipedia pathwaysXPC
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)XPC
SNP (GeneSNP Utah)XPC
SNP : HGBaseXPC
Genetic variants : HAPMAPXPC
1000_GenomesXPC 
ICGC programENSG00000154767 
Cancer Gene: CensusXPC 
CONAN: Copy Number AnalysisXPC 
Somatic Mutations in Cancer : COSMICXPC 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
DECIPHER (Syndromes)3:14186648-14220172
Mutations and Diseases : HGMDXPC
OMIM278720    613208   
MedgenXPC
GENETestsXPC
Disease Genetic AssociationXPC
Huge Navigator XPC [HugePedia]  XPC [HugeCancerGEM]
Genomic VariantsXPC  XPC [DGVbeta]
Exome VariantXPC
dbVarXPC
ClinVarXPC
snp3D : Map Gene to Disease7508
DGIdb (Curated mutations)XPC
DGIdb (Drug Gene Interaction db)XPC
General knowledge
Homologs : HomoloGeneXPC
Homology/Alignments : Family Browser (UCSC)XPC
Phylogenetic Trees/Animal Genes : TreeFamXPC
Chemical/Protein Interactions : CTD7508
Chemical/Pharm GKB GenePA37413
Clinical trialXPC
Cancer Resource (Charite)ENSG00000154767
Other databases
Probes
Litterature
PubMed291 Pubmed reference(s) in Entrez
CoreMineXPC
GoPubMedXPC
iHOPXPC

Bibliography

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PMID 3459159
 
Deficiency in the catalase activity of xeroderma pigmentosum cell and simian virus 40-transformed human cell extracts.
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PMID 3477564
 
Chromatin and nucleolar changes in Xeroderma pigmentosum cells resemble aging-related nuclear events.
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PMID 2911272
 
Selective repair of specific chromatin domains in UV-irradiated cells from xeroderma pigmentosum complementation group C.
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PMID 2342504
 
The residual repair capacity of xeroderma pigmentosum complementation group C fibroblasts is highly specific for transcriptionally active DNA.
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PMID 2308842
 
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Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C.
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PMID 1522891
 
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PMID 7851894
 
Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25.
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PMID 8088800
 
Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23.
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PMID 8168482
 
Development of a new easy complementation assay for DNA repair deficient human syndromes using cloned repair genes.
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PMID 7767957
 
Transcription-coupled repair removes both cyclobutane pyrimidine dimers and 6-4 photoproducts with equal efficiency and in a sequential way from transcribed DNA in xeroderma pigmentosum group C fibroblasts.
van Hoffen A, Venema J, Meschini R, van Zeeland AA, Mullenders LH
The EMBO journal. 1995 ; 14 (2) : 360-367.
PMID 7835346
 
Overproduction, purification, and characterization of the XPC subunit of the human DNA repair excision nuclease.
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The Journal of biological chemistry. 1996 ; 271 (32) : 19451-19456.
PMID 8702634
 
XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes.
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PMID 8692695
 
The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway.
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Genes & development. 1996 ; 10 (10) : 1219-1232.
PMID 8675009
 
Sequence of the mouse XPC cDNA and genomic structure of the human XPC gene.
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Nucleic acids research. 1996 ; 24 (6) : 1026-1028.
PMID 8604333
 
Retroviral-mediated correction of DNA repair defect in xeroderma pigmentosum cells is associated with recovery of catalase activity.
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Mutation research. 1997 ; 385 (3) : 235-242.
PMID 9506892
 
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.
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Gene therapy. 1997 ; 4 (10) : 1077-1084.
PMID 9415314
 
Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes.
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PMID 9433478
 
Identification and characterization of XPC-binding domain of hHR23B.
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PMID 9372923
 
Mechanism of open complex and dual incision formation by human nucleotide excision repair factors.
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PMID 9351836
 
Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals.
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Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (13) : 6837-6841.
PMID 9192652
 
Characterization of defective nucleotide excision repair in XPC mutant mice.
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PMID 9067411
 
p53 mutations in skin and internal tumors of xeroderma pigmentosum patients belonging to the complementation group C.
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PMID 9766670
 
Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair.
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PMID 9734359
 
Interactions of the transcription/DNA repair factor TFIIH and XP repair proteins with DNA lesions in a cell-free repair assay.
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PMID 9698541
 
Nucleosome unfolding during DNA repair in normal and xeroderma pigmentosum (group C) human cells.
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PMID 9651343
 
Defective global genome repair in XPC mice is associated with skin cancer susceptibility but not with sensitivity to UVB induced erythema and edema.
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The Journal of investigative dermatology. 1998 ; 110 (4) : 405-409.
PMID 9540983
 
Persistence of p53 mutations and resistance of keratinocytes to apoptosis are associated with the increased susceptibility of mice lacking the XPC gene to UV carcinogenesis.
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PMID 10602497
 
Order of assembly of human DNA repair excision nuclease.
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PMID 10197977
 
Differential behaviors toward ultraviolet A and B radiation of fibroblasts and keratinocytes from normal and DNA-repair-deficient patients.
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PMID 10096550
 
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Cheo DL, Burns DK, Meira LB, Houle JF, Friedberg EC
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PMID 10029060
 
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The Journal of investigative dermatology. 2000 ; 115 (6) : 974-980.
PMID 11121128
 
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PMID 11042691
 
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.
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Carcinogenesis. 2000 ; 21 (10) : 1821-1825.
PMID 11023539
 
Differential role of transcription-coupled repair in UVB-induced G2 arrest and apoptosis in mouse epidermis.
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Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (21) : 11268-11273.
PMID 11005836
 
Stable binding of human XPC complex to irradiated DNA confers strong discrimination for damaged sites.
Batty D, Rapic'-Otrin V, Levine AS, Wood RD
Journal of molecular biology. 2000 ; 300 (2) : 275-290.
PMID 10873465
 
Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice.
Berg RJ, Rebel H, van der Horst GT, van Kranen HJ, Mullenders LH, van Vloten WA, de Gruijl FR
Cancer research. 2000 ; 60 (11) : 2858-2863.
PMID 10850428
 
Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression.
Garssen J, van Steeg H, de Gruijl F, de Boer J, van der Horst GT, van Kranen H, van Loveren H, van Dijk M, Fluitman A, Weeda G, Hoeijmakers JH
Journal of immunology (Baltimore, Md. : 1950). 2000 ; 164 (12) : 6199-6205.
PMID 10843671
 
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
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Cancer research. 2000 ; 60 (7) : 1974-1982.
PMID 10766188
 
Genotype-specific Trp53 mutational analysis in ultraviolet B radiation-induced skin cancers in Xpc and Xpc Trp53 mutant mice.
Reis AM, Cheo DL, Meira LB, Greenblatt MS, Bond JP, Nahari D, Friedberg EC
Cancer research. 2000 ; 60 (6) : 1571-1579.
PMID 10749125
 
The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA.
Yokoi M, Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F
The Journal of biological chemistry. 2000 ; 275 (13) : 9870-9875.
PMID 10734143
 
Defective nucleotide excision repair in xpc mutant mice and its association with cancer predisposition.
Friedberg EC, Bond JP, Burns DK, Cheo DL, Greenblatt MS, Meira LB, Nahari D, Reis AM
Mutation research. 2000 ; 459 (2) : 99-108.
PMID 10725660
 
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Contributor(s)

Written02-2001Anne Stary and Alain Sarasin

Citation

This paper should be referenced as such :
Stary, A ; Sarasin, A
XPC (xeroderma pigmentosum, complementation group C)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):103-105.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/XPCID122.html

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