XPC (gene)

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Xeroderma pigmentosum, complementation group C
Protein XPC PDB 2A4J.png
Rendering based on PDB 2A4J.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols XPC ; RAD4; XP3; XPCC
External IDs OMIM613208 MGI103557 HomoloGene3401 GeneCards: XPC Gene
RNA expression pattern
PBB GE XPC 209375 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7508 22591
Ensembl ENSG00000154767 ENSMUSG00000030094
UniProt Q01831 P51612
RefSeq (mRNA) NM_001145769 NM_009531
RefSeq (protein) NP_001139241 NP_033557
Location (UCSC) Chr 3:
14.19 – 14.22 Mb
Chr 6:
91.49 – 91.52 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.[1]

Function[edit]

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.[1]

Clinical significance[edit]

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.[1]

Interactions[edit]

XPC (gene) has been shown to interact with ABCA1,[2] CETN2[3] and XPB.[4]

References[edit]

  1. ^ a b c "Entrez Gene: XPC xeroderma pigmentosum, complementation group C". 
  2. ^ Shimizu, Yuichiro; Iwai Shigenori, Hanaoka Fumio, Sugasawa Kaoru (January 2003). "Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase". EMBO J. (England) 22 (1): 164–73. doi:10.1093/emboj/cdg016. ISSN 0261-4189. PMC 140069. PMID 12505994. 
  3. ^ Araki, M; Masutani C, Takemura M, Uchida A, Sugasawa K, Kondoh J, Ohkuma Y, Hanaoka F (June 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. (United States) 276 (22): 18665–72. doi:10.1074/jbc.M100855200. ISSN 0021-9258. PMID 11279143. 
  4. ^ Yokoi, M; Masutani C, Maekawa T, Sugasawa K, Ohkuma Y, Hanaoka F (March 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. (UNITED STATES) 275 (13): 9870–5. doi:10.1074/jbc.275.13.9870. ISSN 0021-9258. PMID 10734143. 

Further reading[edit]

External links[edit]