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 |
|---|---|---|---|---|---|
OMIM IDMIM:611153 Ensembl IDEnsembl:ENSG00000136936 HGNC IDHGNC:HGNC:12814 PHARMGKB IDPA368 Map Location9q22.33 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in XPA
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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