XPA
Summary: This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| XPA, DNA damage recognition and repair factor | MIM:611153 | Ensembl:ENSG00000136936 | HGNC:HGNC:12814 | PA368 | 9q22.33 |
Gene Categories:
DNA REPAIRGO terms in XPA
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0000110 | nucleotide-excision repair factor 1 complex |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005662 | DNA replication factor A complex |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0045171 | intercellular bridge |
| BP | IBA | GO:0000715 | nucleotide-excision repair, DNA damage recognition |
| BP | IDA | GO:0006281 | DNA repair |
| BP | IMP | GO:0006281 | DNA repair |
| BP | TAS | GO:0006283 | transcription-coupled nucleotide-excision repair |
| BP | IBA | GO:0006284 | base-excision repair |
| BP | TAS | GO:0006293 | nucleotide-excision repair, preincision complex stabilization |
| BP | TAS | GO:0006294 | nucleotide-excision repair, preincision complex assembly |
| BP | TAS | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion |
| BP | IEA | GO:0006979 | response to oxidative stress |
| BP | IEA | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage |
| BP | IEA | GO:0009636 | response to toxic substance |
| BP | IDA | GO:0009650 | UV protection |
| BP | IMP | GO:0009650 | UV protection |
| BP | IEA | GO:0010996 | response to auditory stimulus |
| BP | IBA | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | IMP | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | TAS | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | IMP | GO:0034504 | protein localization to nucleus |
| BP | IEA | GO:0035264 | multicellular organism growth |
| BP | TAS | GO:0070911 | global genome nucleotide-excision repair |
| BP | IBA | GO:0070914 | UV-damage excision repair |
| BP | IBA | GO:1901255 | nucleotide-excision repair involved in interstrand cross-link repair |
| MF | IBA | GO:0003684 | damaged DNA binding |
| MF | IDA | GO:0003684 | damaged DNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0019904 | protein domain specific binding |
| MF | IPI | GO:0042803 | protein homodimerization activity |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: XPA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in XPA
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00478 | Nucleotide Excision Repair |
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
| 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-5696400 | Dual Incision in GG-NER |
| reactome | R-HSA-6781823 | Formation of TC-NER Pre-Incision Complex |
| reactome | R-HSA-6781827 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) |
| reactome | R-HSA-6782135 | Dual incision in TC-NER |
| reactome | R-HSA-73894 | DNA Repair |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD599 | Salermide | 6 |
| iGMDRD5 | Tyrphostin AG 1478 | 3 |
| iGMDRD330 | BRD4132 | 1 |
| iGMDRD221 | Tamoxifen | 3 |
| iGMDRD2 | PK-11195 | 3 |
| iGMDRD85 | Ursolic acid | 3 |
| iGMDRD264 | Bryostatin 1 | 1 |
| iGMDRD375 | GW-405833 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in XPA
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