Basic Information

Symbol
XPC
RNA class
mRNA
Alias
XPC Complex Subunit, DNA Damage Recognition And Repair Factor XPCC RAD4 Xeroderma Pigmentosum, Complementation Group C DNA Repair Protein Complementing XP-C Cells P125 Xeroderma Pigmentosum Group C-Complementing Protein Xeroderma Pigmentosum Group C Protein Mutant Xeroderma Pigmentosum Group C XP3
Location (GRCh38)
3:14145145-14178652
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004628.5
Sequence length
3650.0 nt
GC content
0.5195

Transcripts

ID Sequence Length GC content
NM_001354726.2 NCBI
ACUCGCGAAGUGGAAUUUGCCCAGACAAGCAACAUGGCUCGGAAACGCG… 3526 nt 0.5201
NM_001354727.2 NCBI
ACUCGCGAAGUGGAAUUUGCCCAGACAAGCAACAUGGCUCGGAAACGCG… 3644 nt 0.5206
NM_001354729.2 NCBI
ACUCGCGAAGUGGAAUUUGCCCAGACAAGCAACAUGGCUCGGAAACGCG… 3632 nt 0.5187
NM_001354730.2 NCBI
ACUCGCGAAGUGGAAUUUGCCCAGACAAGCAACAUGGCUCGGAAACGCG… 3404 nt 0.5165
NM_004628.5 NCBI
ACUCGCGAAGUGGAAUUUGCCCAGACAAGCAACAUGGCUCGGAAACGCG… 3650 nt 0.5195
Summary

The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]

Forensic Context

A study in mice demonstrated that specific irradiation of Kupffer cells with α-particles in vivo led to the down-regulation of the XPC gene, which is involved in DNA repair, as part of a broader pattern of altered gene expression in liver tissue [Roudkenar et al. DOI:10.1269/jrr.07078].