XPC
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:613208 Ensembl IDEnsembl:ENSG00000154767 HGNC IDHGNC:HGNC:12816 PHARMGKB IDPA37413 Map Location3p25.1 | |||||
GO terms in XPC
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0000715 | nucleotide-excision repair, DNA damage recognition |
| BP | TAS | GO:0000715 | nucleotide-excision repair, DNA damage recognition |
| BP | TAS | GO:0006281 | DNA repair |
| BP | IBA | GO:0006289 | nucleotide-excision repair |
| BP | IDA | GO:0006289 | nucleotide-excision repair |
| BP | TAS | GO:0006294 | nucleotide-excision repair, preincision complex assembly |
Gene expression in normal tissue: XPC
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in XPC
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5696394 | DNA Damage Recognition in GG-NER |
| reactome | R-HSA-5696395 | Formation of Incision Complex in GG-NER |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in XPC
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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