Recombinant Human DNA repair protein complementing XP-C cells (XPC), partial

Function

In absence of DNA repair, the XPC complex also acts as a transcription coactivator: XPC interacts with the DNA-binding transcription factor E2F1 at a subset of promoters to recruit KAT2A and histone acetyltransferase complexes (HAT) (PubMed:29973595, PubMed:31527837). KAT2A recruitment specifically promotes acetylation of histone variant H2A.Z.1/H2A.Z, but not H2A.Z.2/H2A.V, thereby promoting expression of target genes (PubMed:31527837)

Subcellular Location

Nucleus; Chromosome; Cytoplasm

Disease Association

Xeroderma pigmentosum complementation group C (XP-C) : An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. [The disease is caused by variants affecting the gene represented in this entry]

Subunit

Component of the XPC complex composed of XPC, RAD23B and CETN2 (PubMed:11279143, PubMed:12509233, PubMed:15964821, PubMed:16533048, PubMed:16627479, PubMed:17897675). Interacts with RAD23A; the interaction is suggesting the existence of a functional equivalent variant XPC complex (PubMed:9372924). Interacts with TDG; the interaction is demonstrated using the XPC:RAD23B dimer (PubMed:12505994, PubMed:20798892). Interacts with SMUG1; the interaction is demonstrated using the XPC:RAD23B dimer (PubMed:20798892). Interacts with DDB2 (PubMed:15882621). Interacts with CCNH, GTF2H1 and ERCC3 (PubMed:10734143, PubMed:12509233). Interacts with E2F1 and KAT2A; leading to KAT2A recruitment to promoters and subsequent acetylation of histones (PubMed:29973595, PubMed:31527837)

• Masutani C. et al. 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. (1994)
• Khan S.G. et al. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. — Nucleic Acids Res. (2002)
• Corominas R. et al. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. — Nat. Commun. (2014)
• PubMed: CI-6QALB6QA9OC0B (JUL-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Muzny D.M. et al. The DNA sequence, annotation and analysis of human chromosome 3. — Nature (2006)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Suzuki Y. et al. PubMed: CI-5AVBODINQ93DF (APR-)