XPC (gene)

Xeroderma pigmentosum, complementation group C
Rendering based on PDB 2A4J.
Available structures PDB 2A4J, 2GGM, 2OBH
Identifiers
Symbols	XPC; RAD4; XP3; XPCC
External IDs	OMIM: 613208 MGI: 103557 HomoloGene: 3401 GeneCards: XPC Gene
Gene Ontology Molecular function • loop DNA binding • bubble DNA binding • damaged DNA binding • single-stranded DNA binding • protein binding Cellular component • nucleus • nucleoplasm • nucleoplasm • cytoplasm • XPC complex Biological process • cell cycle checkpoint • nucleotide-excision repair, DNA damage recognition • nucleotide-excision repair, DNA damage recognition • nucleotide-excision repair, DNA damage removal • DNA repair • nucleotide-excision repair • nucleotide-excision repair • response to UV-B • intra-S DNA damage checkpoint Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	7508	22591
Ensembl	ENSG00000154767	ENSMUSG00000030094
UniProt	Q01831	Q7TSZ1
RefSeq (mRNA)	NM_001145769.1	NM_009531.2
RefSeq (protein)	NP_001139241.1	NP_033557.2
Location (UCSC)	Chr 3: 14.19 – 14.22 Mb	Chr 6: 91.44 – 91.47 Mb
PubMed search	[1]	[2]

Xeroderma pigmentosum, complementation group C, also known as XPC, is a protein which in humans is encoded by the XPC gene. XPC is involved in the recognition of bulky DNA adducts in nucleotide excision repair.

Function

This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation.

Clinical significance

Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age.

Interactions

XPC (gene) has been shown to interact with ABCA1, CETN2 and XPB.

External Links

• GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum

Further reading

• Cleaver JE, Thompson LH, Richardson AS, States JC (1999). "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.". Hum. Mutat. 14 (1): 9–22. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. PMID 10447254. 
• El-Deiry WS (2003). "Transactivation of repair genes by BRCA1.". Cancer Biol. Ther. 1 (5): 490–1. PMID 12496474. 
• Sugasawa K (2007). "UV-induced ubiquitylation of XPC complex, the UV-DDB-ubiquitin ligase complex, and DNA repair.". J. Mol. Histol. 37 (5–7): 189–202. doi:10.1007/s10735-006-9044-7. PMID 16858626. 
• Legerski R, Peterson C (1993). "Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C". Nature 360 (6404): 610–610. doi:10.1038/360610b0. PMID 1461286. 
• Legerski R, Peterson C (1992). "Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C". Nature 359 (6390): 70–3. doi:10.1038/359070a0. PMID 1522891. 
• Legerski RJ, Liu P, Li L et al (1994). "Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25". Genomics 21 (1): 266–9. doi:10.1006/geno.1994.1256. PMID 8088800. 
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• Masutani C, Sugasawa K, Yanagisawa J et al (1994). "Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23". EMBO J. 13 (8): 1831–43. PMC 395023. PMID 8168482. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=395023. 
• Li L, Bales ES, Peterson CA, Legerski RJ (1994). "Characterization of molecular defects in xeroderma pigmentosum group C". Nat. Genet. 5 (4): 413–7. doi:10.1038/ng1293-413. PMID 8298653. 
• Li L, Peterson C, Legerski R (1996). "Sequence of the mouse XPC cDNA and genomic structure of the human XPC gene". Nucleic Acids Res. 24 (6): 1026–8. doi:10.1093/nar/24.6.1026. PMC 145764. PMID 8604333. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=145764. 
• van der Spek PJ (1996). "XPC and human homologs of RAD23: intracellular localization and relationship to other nucleotide excision repair complexes". Nucleic Acids Res. 24 (13): 2551–9. doi:10.1093/nar/24.13.2551. PMC 145966. PMID 8692695. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=145966. 
• Li L, Lu X, Peterson C, Legerski R (1997). "XPC interacts with both HHR23B and HHR23A in vivo". Mutat. Res. 383 (3): 197–203. PMID 9164480. 
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• Zeng L, Quilliet X, Chevallier-Lagente O et al (1998). "Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C". Gene Ther. 4 (10): 1077–84. doi:10.1038/sj.gt.3300495. PMID 9415314. 
• Khan SG, Levy HL, Legerski R et al (1998). "Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia". J. Invest. Dermatol. 111 (5): 791–6. doi:10.1046/j.1523-1747.1998.00391.x. PMID 9804340. 
• Yokoi M, Masutani C, Maekawa T et al (2000). "The xeroderma pigmentosum group C protein complex XPC-HR23B plays an important role in the recruitment of transcription factor IIH to damaged DNA". J. Biol. Chem. 275 (13): 9870–5. doi:10.1074/jbc.275.13.9870. PMID 10734143. 
• Batty D, Rapic'-Otrin V, Levine AS, Wood RD (2000). "Stable binding of human XPC complex to irradiated DNA confers strong discrimination for damaged sites". J. Mol. Biol. 300 (2): 275–90. doi:10.1006/jmbi.2000.3857. PMID 10873465. 
• Araújo SJ, Nigg EA, Wood RD (2001). "Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosome". Mol. Cell. Biol. 21 (7): 2281–91. doi:10.1128/MCB.21.7.2281-2291.2001. PMC 86862. PMID 11259578. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=86862. 
• Araki M, Masutani C, Takemura M et al (2001). "Centrosome protein centrin 2/caltractin 1 is part of the xeroderma pigmentosum group C complex that initiates global genome nucleotide excision repair". J. Biol. Chem. 276 (22): 18665–72. doi:10.1074/jbc.M100855200. PMID 11279143.