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 |
|---|---|---|---|---|---|
| XPC complex subunit, DNA damage recognition and repair factor | MIM:613208 | Ensembl:ENSG00000154767 | HGNC:HGNC:12816 | PA37413 | 3p25.1 |
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 |
| BP | IBA | GO:0006298 | mismatch repair |
| BP | IEA | GO:0010224 | response to UV-B |
| BP | IEA | GO:0010996 | response to auditory stimulus |
| BP | IEA | GO:0031573 | intra-S DNA damage checkpoint |
| BP | IEA | GO:0042493 | response to drug |
| BP | TAS | GO:0070911 | global genome nucleotide-excision repair |
| BP | IDA | GO:0070914 | UV-damage excision repair |
| BP | IMP | GO:1901990 | regulation of mitotic cell cycle phase transition |
| CC | IBA | GO:0000111 | nucleotide-excision repair factor 2 complex |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IBA | GO:0071942 | XPC complex |
| CC | IDA | GO:0071942 | XPC complex |
| MF | TAS | GO:0000404 | heteroduplex DNA loop binding |
| MF | TAS | GO:0000405 | bubble DNA binding |
| MF | IBA | GO:0003684 | damaged DNA binding |
| MF | IDA | GO:0003684 | damaged DNA binding |
| MF | IBA | GO:0003697 | single-stranded DNA binding |
| MF | IDA | GO:0003697 | single-stranded DNA binding |
| MF | IPI | GO:0005515 | protein binding |
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 |
| reactome | R-HSA-5696398 | Nucleotide Excision Repair |
| reactome | R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-73894 | DNA Repair |
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD210 | AC55649 | 3 |
| iGMDRD599 | Salermide | 1 |
| iGMDRD466 | Chaetocin | 1 |
| iGMDRD280 | CYTOCHALASIN B | 8 |
| iGMDRD375 | GW-405833 | 2 |
| iGMDRD634 | SCHEMBL2608041 | 4 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD61 | Kinetin riboside | 4 |
| iGMDRD152 | 179324-69-7 | 3 |
| iGMDRD171 | Pemetrexed | 6 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD100 | Zebularine | 4 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD74 | Idarubicin | 4 |
| iGMDRD506 | Fedratinib | 6 |
| iGMDRD577 | BIX01294 | 4 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD150 | RITA | 2 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 4 |
| iGMDRD512 | nutlin 3 | 5 |
| iGMDRD177 | Teniposide | 2 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD85 | Ursolic acid | 3 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD415 | LE-135 | 2 |
| iGMDRD158 | NSC141540 | 5 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD5 | Tyrphostin AG 1478 | 1 |
| iGMDRD246 | NPC26 | 1 |
| iGMDRD286 | Nsc 632839 | 3 |
| iGMDRD662 | JQ-1 | 3 |
| iGMDRD329 | Merck60 | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in XPC
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