XPC

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]

Description

XPC complex subunit, DNA damage recognition and repair factor

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Plasma membrane

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

3 (14145147 - 14178621)

Ensembl ID

ENSG00000154767  (ver. 103.38)

Orthologs

Mouse Xpc: ENSMUSG00000030094

UniProt

Q01831

neXtProt

NX_Q01831

Human splice variants
Mouse splice variants

Protein structure