XPA
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Also known as XPACXP1
Summary
XPA (XPA, DNA damage recognition and repair factor, HGNC:12814) is a protein-coding gene on chromosome 9q22.33, encoding DNA repair protein complementing XP-A cells (P23025). Involved in DNA nucleotide excision repair (NER).
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.
Source: NCBI Gene 7507 — RefSeq curated summary.
At a glance
- Gene–disease (curated): xeroderma pigmentosum group A (Definitive, ClinGen) — +1 more curated relationship
- GWAS associations: 4
- Clinical variants (ClinVar): 416 total — 58 pathogenic, 40 likely-pathogenic
- Phenotypes (HPO): 72
- Druggable target: yes
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_000380
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12814 |
| Approved symbol | XPA |
| Name | XPA, DNA damage recognition and repair factor |
| Location | 9q22.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | XPAC, XP1 |
| Ensembl gene | ENSG00000136936 |
| Ensembl biotype | protein_coding |
| OMIM | 611153 |
| Entrez | 7507 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000375128, ENST00000462523, ENST00000485042, ENST00000496104, ENST00000905836, ENST00000905837
RefSeq mRNA: 2 — MANE Select: NM_000380
NM_000380, NM_001354975
CCDS: CCDS6729
Canonical transcript exons
ENST00000375128 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000805601 | 97689534 | 97689639 |
| ENSE00000805603 | 97684923 | 97685040 |
| ENSE00001465835 | 97697121 | 97697340 |
| ENSE00003459576 | 97687096 | 97687261 |
| ENSE00003465148 | 97693649 | 97693759 |
| ENSE00003671978 | 97674909 | 97675587 |
Expression profiles
Bgee: expression breadth ubiquitous, 289 present calls, max score 93.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.8295 / max 244.0114, expressed in 1804 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101627 | 20.6894 | 1802 |
| 101628 | 1.1400 | 706 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 93.58 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 93.38 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.88 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 92.70 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.66 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 92.59 | gold quality |
| parietal pleura | UBERON:0002400 | 92.47 | gold quality |
| thyroid gland | UBERON:0002046 | 92.43 | gold quality |
| amniotic fluid | UBERON:0000173 | 92.19 | gold quality |
| squamous epithelium | UBERON:0006914 | 92.16 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.87 | gold quality |
| tendon | UBERON:0000043 | 91.81 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 91.56 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 91.40 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.38 | gold quality |
| tibia | UBERON:0000979 | 91.31 | gold quality |
| gingival epithelium | UBERON:0001949 | 91.24 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 91.17 | gold quality |
| lower esophagus | UBERON:0013473 | 91.06 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 91.05 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.88 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.79 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.78 | gold quality |
| tibial artery | UBERON:0007610 | 90.69 | gold quality |
| popliteal artery | UBERON:0002250 | 90.68 | gold quality |
| sural nerve | UBERON:0015488 | 90.68 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.66 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 90.62 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.57 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.44 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.44 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR, DDB2, ERCC2, HIF1A, HMGA1, NR1H2, TCF3
miRNA regulators (miRDB)
13 targeting XPA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-3158-3P | 98.45 | 64.25 | 560 |
| HSA-MIR-6816-3P | 95.05 | 66.08 | 459 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- modulates replication protein A-DNA interactions (PMID:11859086)
- Human XPA and RPA DNA repair proteins participate in specific recognition of triplex-induced helical distortions (PMID:11972036)
- Low amounts are sufficient to recover UV-resistance; demonstrate that XPA protein concentration is not a limiting factor for DNA repair (PMID:12082027)
- XPA A23G polymorphism contributes to genetic susceptibility for lung cancer (PMID:12376498)
- Dimerization of XPA plays an important role in the DNA damage recognition of nucleotide excision repair. (PMID:12390028)
- In patients, with xeroderma pigmentosum the severity of clinical symptoms depends on the length of the XPA gene products. (PMID:12459522)
- the multistep process of DNA damage recognition includes initiation by XPC-hHR23B, which is then replaced by the combined action of XPA and RPA (PMID:12486030)
- Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions (PMID:12897146)
- XPA, ERCC1 and XPF DNA repair protein expression is reduced in testis neoplasms (PMID:15095299)
- XPA was widely expressed in metastatic ovarian carcinoma effusion specimens and in the cells of the effusion microenvironment (PMID:15844177)
- The dominant form for XPA to efficiently bind to DNA damage is the XPA dimer; the concentration-dependent formation of different types of XPA-damaged DNA complex may play a role in cellular regulation of XPA activity. (PMID:15882075)
- Transfected XP12RO cell lines expressing 50,000 or more XPA molecules/cell showed UV resistance similar to normal cells. (PMID:16413230)
- These findings show how an increased deformability of damaged sites, leading to helical kinks recognized by XPA, contributes to target selectivity in DNA repair. (PMID:16491090)
- XPA polymorphism was associated with basal cell carcinoma and squamous cell carcinoma of the skin (PMID:16513681)
- Participants in a study of occupational exposure to mineral fibres in Slovakia were analysed for the polymorphism 23A–>G in the DNA repair gene XPA: presence of the A allele was associated with higher levels of DNA damage. (PMID:16613913)
- Data show that ultraviolet (UV) radiation-induced ATR signaling is compromised in XPA-deficient human cells during S phase, and this signaling involves UV bypass polymerase eta. (PMID:16675950)
- XPA recognizes undamaged DNA double-strand/single-strand (ds-ssDNA) junctions containing ssDNA branches with binding affinity much higher than its ability to bind to DNA damage. (PMID:17176115)
- results showed no interaction between the XPD Lys751Gln, XPA A23G, and XPD Asp312Asn polymorphisms and the environmental factors for the development of colorectal cancer (PMID:17363013)
- ING1b associates with chromatin in a UV-inducible manner and facilitates DNA access to nucleotide excision repair factor XPA. (PMID:17379210)
- Single nucleotide polymorphisms of xeroderma pigmentosum group A is associated with esophageal squamous cell carcinoma (PMID:17653764)
- The results indicate an increased basal cell carcinoma risk associated with high arsenic exposure among those homozygous variant for XPA (A23G). (PMID:17687452)
- removal of a single cationic side chain abolished DNA-binding activity and significant excision repair defects could be induced by single charge inversions on the XPA surface (PMID:17765667)
- RNA interference (RNAi) knockdown of XPA in Hutchinson-Gilford progeria syndrome cells partially restored double-strand breaks repair as evidenced by Western blot analysis, immunofluorescence and comet assays (PMID:17848622)
- Intake of fruit was associated with lower risk for lung cancer only among carriers of the XPA A23G variant genotype. (PMID:17913280)
- patients treated with first-line oxaliplatin/fluoropyrimidine harboring both XPG C/C and XPA A/G or A/A profiles have a longer survival and TTP. (PMID:18204222)
- although the amount of XPA in a testis tumor cell line is lower than normal, it is sufficient for nucleotide excision repair in vivo (PMID:18240296)
- Data suggest that lack of functional Xeroderma Pigmentosum A increases susceptibility of oxidative stress-induced genotoxicity while retaining cell viability posing as a potential cancer risk factor of Xeroderma Pigmentosum A patients. (PMID:18585952)
- XPA A23G and XPC exon 8 Val499Ala polymorphisms may be useful markers for identifying individuals at risk of developing gastric cardiac adenocarcinoma in the high incidence region of north China (PMID:18645534)
- Data show that XPC, XPA, and RPA demonstrate low specificity in binding to damaged DNA compared with undamaged DNA duplexes. (PMID:18774935)
- Differential association of alterations in FANCC and PTCH1 with that of PHF2, XPA and two breast cancer susceptibility genes (BRCA1/BRCA2) in the two age groups suggests differences in their molecular pathogenesis. (PMID:18990233)
- Genetic polymorphism in the XPA 23G might be associated with esophageal cancer. (PMID:19173862)
- Results show that Cep164 knockdown compromises the cell survival upon UV damage, and that UV irradiation significantly enhances the interaction between Cep164 and XPA. (PMID:19197159)
- Results showed that XPA A23G polymorphism significantly increased response to platinum-based chemotherapy. (PMID:19430706)
- XPA formation of covalent adducts with DNA is due to the interaction of XPA with endogenous RPA. (PMID:19538122)
- the ATR-XPA interaction mediated by the helix-turn-helix motif of XPA plays an important role in DNA-damage responses to promote cell survival and genomic stability after UV irradiation. (PMID:19586908)
- the 5’-GTG-3’ sequence, containing 5R thymine glycol, paired with adenine, is a good binding substrate for XPA and XPC/HR23B. (PMID:19892827)
- Data show that mutation of two conserved residues (Asn-110 and Tyr-145) located in the XPA-binding site of ERCC1 dramatically affected NER. (PMID:19940136)
- genetic variations in XPA and XPC genes may modulate DNA damage levels when exposed to polycyclic aromatic hydrocarbons (PMID:20056640)
- The circadian oscillation of XPA is achieved both by regulation of transcription by the core circadian clock proteins including cryptochrome and by regulation at the posttranslational level by the HERC2 ubiquitin ligase. (PMID:20304803)
- Data show that XPC and Ku oppositely regulate the ubiquitin ligase activity of DDB2, and that DDB2 complex-mediated ubiquitylation plays a role in recruiting XPA to damaged sites. (PMID:20368362)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | xpa | ENSDARG00000038114 |
| mus_musculus | Xpa | ENSMUSG00000028329 |
| rattus_norvegicus | Xpa | ENSRNOG00000009576 |
| drosophila_melanogaster | Xpac | FBGN0004832 |
| caenorhabditis_elegans | xpa-1 | WBGENE00006963 |
Protein
Protein identifiers
DNA repair protein complementing XP-A cells — P23025 (reviewed: P23025)
Alternative names: Xeroderma pigmentosum group A-complementing protein
All UniProt accessions (2): P23025, F2Z2T2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in DNA nucleotide excision repair (NER). Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation. During NER stimulates the 5’-3’ helicase activity of XPD/ERCC2 and the DNA translocase activity of XPB/ERCC3. Connects XPD/ERCC2 and XPB/ERCC3 during NER, retaining DNA near the XPB/ERCC3 active site, and stabilizing the complex in a different conformation than in transcribing TFIIH.
Subunit / interactions. Interacts with GPN1. Interacts with RPA1 and RPA2; the interaction is direct and associates XPA with the RPA complex. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with HERC2. During NER binds XPD/ERCC2 and XPB/ERCC3 of transcription factor IIH (TFIIH), bridging the 2 proteins.
Subcellular location. Nucleus.
Tissue specificity. Expressed in various cell lines and in skin fibroblasts.
Post-translational modifications. ATR-dependent phosphorylation of XPA at Ser-196 is important for cell survival in response to UV damage. Ubiquitinated by HERC2 leading to degradation by the proteasome.
Disease relevance. Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the XPA family.
RefSeq proteins (2): NP_000371, NP_001341904 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000465 | XPA/RAD14 | Family |
| IPR009061 | DNA-bd_dom_put_sf | Homologous_superfamily |
| IPR022652 | Znf_XPA_CS | Conserved_site |
| IPR022656 | XPA_C | Domain |
| IPR022658 | XPA_CS | Conserved_site |
| IPR037129 | XPA_sf | Homologous_superfamily |
Pfam: PF01286, PF05181
UniProt features (46 total): sequence variant 11, strand 9, helix 6, turn 6, binding site 4, cross-link 3, modified residue 2, initiator methionine 1, chain 1, zinc finger region 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
18 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6J44 | X-RAY DIFFRACTION | 2.06 |
| 6LAE | X-RAY DIFFRACTION | 2.81 |
| 9QEC | ELECTRON MICROSCOPY | 2.9 |
| 8EBU | ELECTRON MICROSCOPY | 3.3 |
| 9PD3 | ELECTRON MICROSCOPY | 3.3 |
| 9PD4 | ELECTRON MICROSCOPY | 3.4 |
| 6RO4 | ELECTRON MICROSCOPY | 3.5 |
| 7AD8 | ELECTRON MICROSCOPY | 3.5 |
| 9XYU | ELECTRON MICROSCOPY | 3.5 |
| 28KE | ELECTRON MICROSCOPY | 3.6 |
| 8EBX | ELECTRON MICROSCOPY | 3.6 |
| 8EBY | ELECTRON MICROSCOPY | 3.6 |
| 8EBT | ELECTRON MICROSCOPY | 3.9 |
| 9PCP | ELECTRON MICROSCOPY | 4.3 |
| 9PD5 | ELECTRON MICROSCOPY | 5.7 |
| 1D4U | SOLUTION NMR | |
| 1XPA | SOLUTION NMR | |
| 2JNW | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P23025-F1 | 82.51 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 105; 108; 126; 129
Post-translational modifications (5): 196, 63, 86, 145, 2
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-5696395 | Formation of Incision Complex in GG-NER |
| R-HSA-5696400 | Dual Incision in GG-NER |
| R-HSA-6781823 | Formation of TC-NER Pre-Incision Complex |
| R-HSA-6782135 | Dual incision in TC-NER |
MSigDB gene sets: 289 (showing top):
REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_AUTOPHAGY, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_CELLULAR_RESPONSE_TO_UV, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_GROWTH, KAUFFMANN_DNA_REPAIR_GENES, MORF_PSMC2, GOBP_UV_PROTECTION, GOCC_NUCLEAR_REPLICATION_FORK, GOBP_NUCLEOTIDE_EXCISION_REPAIR, GOBP_APOPTOTIC_SIGNALING_PATHWAY
GO Biological Process (16): nucleotide-excision repair, DNA damage recognition (GO:0000715), DNA repair (GO:0006281), base-excision repair (GO:0006284), nucleotide-excision repair (GO:0006289), response to oxidative stress (GO:0006979), intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630), response to toxic substance (GO:0009636), UV protection (GO:0009650), regulation of autophagy (GO:0010506), protein localization to nucleus (GO:0034504), multicellular organism growth (GO:0035264), positive regulation of transcription initiation by RNA polymerase II (GO:0060261), UV-damage excision repair (GO:0070914), nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255), DNA damage response (GO:0006974), response to UV (GO:0009411)
GO Molecular Function (8): damaged DNA binding (GO:0003684), zinc ion binding (GO:0008270), protein domain specific binding (GO:0019904), protein homodimerization activity (GO:0042803), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (6): nucleotide-excision repair factor 1 complex (GO:0000110), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604), DNA replication factor A complex (GO:0005662)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 2 |
| Transcription-Coupled Nucleotide Excision Repair (TC-NER) | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA repair | 3 |
| nucleotide-excision repair | 2 |
| DNA damage response | 2 |
| cellular anatomical structure | 2 |
| chromosome organization | 1 |
| DNA metabolic process | 1 |
| response to stress | 1 |
| intrinsic apoptotic signaling pathway | 1 |
| response to chemical | 1 |
| response to UV | 1 |
| autophagy | 1 |
| regulation of catabolic process | 1 |
| protein localization to organelle | 1 |
| multicellular organismal process | 1 |
| developmental growth | 1 |
| transcription initiation at RNA polymerase II promoter | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
| regulation of transcription initiation by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription initiation | 1 |
| cellular response to UV | 1 |
| interstrand cross-link repair | 1 |
| cellular response to stress | 1 |
| response to light stimulus | 1 |
| DNA binding | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| cation binding | 1 |
| nucleotide-excision repair complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| nuclear replisome | 1 |
Protein interactions and networks
STRING
1718 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| XPA | ERCC1 | P07992 | 999 |
| XPA | ERCC3 | P19447 | 998 |
| XPA | ERCC2 | P18074 | 998 |
| XPA | RAD23B | P54727 | 995 |
| XPA | ERCC4 | Q92889 | 991 |
| XPA | DDB2 | Q92466 | 972 |
| XPA | XAB2 | Q9HCS7 | 972 |
| XPA | ERCC5 | P28715 | 959 |
| XPA | RASSF1 | Q9NS23 | 937 |
| XPA | RPA2 | P15927 | 936 |
| XPA | A0A090J7P6 | A0A090J7P6 | 921 |
| XPA | XPC | Q01831 | 918 |
| XPA | RECQL4 | O94761 | 918 |
| XPA | GPN1 | Q9HCN4 | 916 |
| XPA | ERCC6 | Q03468 | 904 |
IntAct
115 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ERCC1 | XPA | psi-mi:“MI:0915”(physical association) | 0.930 |
| XPA | ERCC1 | psi-mi:“MI:0915”(physical association) | 0.930 |
| XPA | ERCC1 | psi-mi:“MI:0914”(association) | 0.930 |
| XPA | ERCC1 | psi-mi:“MI:0407”(direct interaction) | 0.930 |
| XPA | RPA2 | psi-mi:“MI:0914”(association) | 0.920 |
| RPA2 | XPA | psi-mi:“MI:0915”(physical association) | 0.920 |
| XPA | RPA2 | psi-mi:“MI:0915”(physical association) | 0.920 |
| TRIM27 | XPA | psi-mi:“MI:0915”(physical association) | 0.720 |
| XPA | NDEL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NDEL1 | XPA | psi-mi:“MI:0915”(physical association) | 0.720 |
| XPA | HERC2 | psi-mi:“MI:0914”(association) | 0.680 |
| XPA | HERC2 | psi-mi:“MI:0915”(physical association) | 0.680 |
| SIRT1 | XPA | psi-mi:“MI:0915”(physical association) | 0.600 |
| SIRT1 | XPA | psi-mi:“MI:0197”(deacetylation reaction) | 0.600 |
BioGRID (155): XPA (Two-hybrid), NDEL1 (Two-hybrid), ERCC4 (Affinity Capture-MS), ERCC1 (Affinity Capture-MS), NUP43 (Affinity Capture-MS), ZNF518A (Affinity Capture-MS), XPA (Affinity Capture-MS), XPA (Reconstituted Complex), RPA4 (Two-hybrid), ERCC1 (Affinity Capture-MS), ERCC4 (Affinity Capture-MS), NUP43 (Affinity Capture-MS), ZNF518A (Affinity Capture-MS), XPA (FRET), XPA (Affinity Capture-Western)
ESM2 similar proteins: A0A096LP55, A0A1D8PJT8, A1L243, A1L3N6, A6H767, A9ULB4, P00126, P00429, P05067, P07919, P08592, P12023, P13805, P14854, P23025, P27088, P28656, P36233, P36378, P48504, P55209, P56277, P79307, P99028, Q0P451, Q0VBY0, Q15545, Q28CA1, Q28EB4, Q2HJG8, Q4R374, Q4R5A5, Q4U0Y4, Q53CG4, Q5IS80, Q5M9I5, Q5R4D4, Q5R7L9, Q5RCT0, Q64267
Diamond homologs: O59753, P23025, P27088, P27089, P28518, P28519, P53709, Q64029, Q64267, Q5IRJ6, Q5PQZ3, Q5R4H0, Q6PML9
SIGNOR signaling
13 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ATR | up-regulates | XPA | phosphorylation |
| HERC2 | down-regulates | XPA | ubiquitination |
| ATR | “up-regulates activity” | XPA | phosphorylation |
| XPA | “up-regulates activity” | DNA_repair | |
| SIRT1 | “up-regulates activity” | XPA | deacetylation |
| ATM | unknown | XPA | phosphorylation |
| RAD23B | “up-regulates activity” | XPA | binding |
| XPA | up-regulates | Nucleotide-excision_repair |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 51 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| RNA Polymerase I Transcription Termination | 5 | 40.8× | 2e-05 |
| Negative epigenetic regulation of rRNA expression | 6 | 38.9× | 2e-06 |
| RNA Polymerase I Promoter Clearance | 5 | 36.6× | 2e-05 |
| RNA Polymerase I Transcription | 5 | 35.7× | 2e-05 |
| RNA Polymerase I Transcription Initiation | 5 | 28.0× | 7e-05 |
| RNA Polymerase I Promoter Escape | 5 | 15.2× | 6e-04 |
| NoRC negatively regulates rRNA expression | 5 | 13.1× | 1e-03 |
| Epigenetic regulation of gene expression | 6 | 10.7× | 6e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mismatch repair | 5 | 69.0× | 5e-06 |
| transforming growth factor beta receptor signaling pathway | 5 | 16.9× | 2e-03 |
| spermatogenesis | 9 | 6.7× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
416 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 58 |
| Likely pathogenic | 40 |
| Uncertain significance | 90 |
| Likely benign | 169 |
| Benign | 14 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1070563 | NM_000380.4(XPA):c.113_117del (p.Leu38fs) | Pathogenic |
| 1193397 | NM_000380.4(XPA):c.253C>T (p.Gln85Ter) | Pathogenic |
| 1357953 | NM_000380.4(XPA):c.281del (p.Pro94fs) | Pathogenic |
| 1379191 | NM_000380.4(XPA):c.315C>A (p.Cys105Ter) | Pathogenic |
| 1386503 | NM_000380.4(XPA):c.20del (p.Ala7fs) | Pathogenic |
| 1411593 | NM_000380.4(XPA):c.436C>T (p.Gln146Ter) | Pathogenic |
| 1457431 | NM_000380.4(XPA):c.689dup (p.Arg231fs) | Pathogenic |
| 1457433 | NM_000380.4(XPA):c.540_541del (p.Tyr181fs) | Pathogenic |
| 1459898 | NC_000009.11:g.(?100451806)(100451931_?)del | Pathogenic |
| 1709507 | NM_000380.4(XPA):c.520C>T (p.Gln174Ter) | Pathogenic |
| 1805601 | NM_000380.4(XPA):c.640dup (p.Met214fs) | Pathogenic |
| 190207 | NM_000380.4(XPA):c.545_546insTA (p.Leu182fs) | Pathogenic |
| 2008554 | NM_000380.4(XPA):c.4_10dup (p.Ala4fs) | Pathogenic |
| 2085090 | NM_000380.4(XPA):c.70_80del (p.Val24fs) | Pathogenic |
| 2167717 | NM_000380.4(XPA):c.724dup (p.His242fs) | Pathogenic |
| 264684 | NM_000380.4(XPA):c.390-1G>C | Pathogenic |
| 267185 | NM_000380.4(XPA):c.553C>T (p.Gln185Ter) | Pathogenic |
| 267186 | NM_000380.4(XPA):c.374del (p.Thr125fs) | Pathogenic |
| 2703119 | NM_000380.4(XPA):c.238G>T (p.Glu80Ter) | Pathogenic |
| 2735303 | NM_000380.4(XPA):c.471_472del (p.Glu159fs) | Pathogenic |
| 2735304 | NM_000380.4(XPA):c.288del (p.Val97fs) | Pathogenic |
| 2751195 | NM_000380.4(XPA):c.140_149del (p.Pro47fs) | Pathogenic |
| 2812711 | NM_000380.4(XPA):c.754del (p.Asn251_Leu252insTer) | Pathogenic |
| 2818886 | NM_000380.4(XPA):c.124del (p.Arg42fs) | Pathogenic |
| 2821876 | NM_000380.4(XPA):c.509del (p.Pro170fs) | Pathogenic |
| 2843471 | NM_000380.4(XPA):c.408_409del (p.His136fs) | Pathogenic |
| 2850447 | NM_000380.4(XPA):c.712G>T (p.Glu238Ter) | Pathogenic |
| 2863334 | NM_000380.4(XPA):c.469A>T (p.Lys157Ter) | Pathogenic |
| 2866510 | NM_000380.4(XPA):c.424del (p.Thr142fs) | Pathogenic |
| 2910231 | NM_000380.4(XPA):c.103dup (p.Ala35fs) | Pathogenic |
SpliceAI
1489 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:97675583:CAATT:C | acceptor_gain | 1.0000 |
| 9:97675586:TT:T | acceptor_gain | 1.0000 |
| 9:97675587:TCTGA:T | acceptor_loss | 1.0000 |
| 9:97675588:C:CC | acceptor_gain | 1.0000 |
| 9:97675588:C:T | acceptor_loss | 1.0000 |
| 9:97675589:T:C | acceptor_loss | 1.0000 |
| 9:97684919:CTAC:C | donor_loss | 1.0000 |
| 9:97684920:TACC:T | donor_loss | 1.0000 |
| 9:97684921:A:T | donor_loss | 1.0000 |
| 9:97684922:C:CA | donor_loss | 1.0000 |
| 9:97684928:A:AC | donor_gain | 1.0000 |
| 9:97684929:C:CC | donor_gain | 1.0000 |
| 9:97685037:CAAT:C | acceptor_gain | 1.0000 |
| 9:97685039:AT:A | acceptor_gain | 1.0000 |
| 9:97685039:ATCTA:A | acceptor_loss | 1.0000 |
| 9:97685040:TCTAC:T | acceptor_loss | 1.0000 |
| 9:97685041:C:CA | acceptor_loss | 1.0000 |
| 9:97685041:C:CC | acceptor_gain | 1.0000 |
| 9:97685042:T:A | acceptor_loss | 1.0000 |
| 9:97687087:A:AC | donor_gain | 1.0000 |
| 9:97687101:A:C | donor_gain | 1.0000 |
| 9:97693642:A:AC | donor_gain | 1.0000 |
| 9:97693643:C:CC | donor_gain | 1.0000 |
| 9:97693643:CTTTA:C | donor_gain | 1.0000 |
| 9:97693647:ACC:A | donor_loss | 1.0000 |
| 9:97693648:CCTGG:C | donor_loss | 1.0000 |
| 9:97693755:CATGC:C | acceptor_gain | 1.0000 |
| 9:97693756:ATGC:A | acceptor_gain | 1.0000 |
| 9:97693757:TGC:T | acceptor_gain | 1.0000 |
| 9:97693758:GC:G | acceptor_gain | 1.0000 |
AlphaMissense
1801 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:97687221:C:G | A144P | 0.997 |
| 9:97693707:G:C | F75L | 0.996 |
| 9:97693707:G:T | F75L | 0.996 |
| 9:97693709:A:G | F75L | 0.996 |
| 9:97687112:A:G | L180P | 0.995 |
| 9:97689547:A:G | C126R | 0.995 |
| 9:97689610:A:G | C105R | 0.995 |
| 9:97675480:A:G | C261R | 0.994 |
| 9:97675581:C:G | R227P | 0.993 |
| 9:97687110:A:C | Y181D | 0.993 |
| 9:97687202:A:G | L150P | 0.992 |
| 9:97689546:C:T | C126Y | 0.992 |
| 9:97687216:T:A | K145N | 0.991 |
| 9:97687216:T:G | K145N | 0.991 |
| 9:97687228:T:A | K141N | 0.991 |
| 9:97687228:T:G | K141N | 0.991 |
| 9:97689609:C:T | C105Y | 0.991 |
| 9:97675470:C:G | C264S | 0.990 |
| 9:97675471:A:G | C264R | 0.990 |
| 9:97675471:A:T | C264S | 0.990 |
| 9:97687117:C:A | M178I | 0.990 |
| 9:97687117:C:G | M178I | 0.990 |
| 9:97687117:C:T | M178I | 0.990 |
| 9:97687146:T:C | N169D | 0.990 |
| 9:97689545:A:C | C126W | 0.990 |
| 9:97689546:C:G | C126S | 0.990 |
| 9:97689547:A:T | C126S | 0.990 |
| 9:97675478:A:C | C261W | 0.989 |
| 9:97675479:C:G | C261S | 0.989 |
| 9:97675480:A:T | C261S | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000235312 (9:97683362 C>A,G), RS1000398500 (9:97693066 TA>T,TAA), RS1000486291 (9:97690020 G>A), RS1000511672 (9:97680219 GT>G,GTT), RS1000569297 (9:97657356 A>G), RS1000663303 (9:97688789 C>A,T), RS1000695069 (9:97696955 A>G), RS1000723416 (9:97664399 A>G), RS1000785700 (9:97682717 C>G), RS1000873744 (9:97692701 G>A,C), RS1000891972 (9:97664129 A>G), RS1000909949 (9:97695746 C>T), RS1001023464 (9:97657153 A>G), RS1001125053 (9:97656846 A>G), RS1001178391 (9:97697058 G>A,C,T)
Disease associations
OMIM: gene MIM:611153 | disease phenotypes: MIM:278700, MIM:167000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| xeroderma pigmentosum group A | Definitive | Autosomal recessive |
| xeroderma pigmentosum | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| xeroderma pigmentosum group A | Definitive | AR |
Mondo (3): xeroderma pigmentosum group A (MONDO:0010210), xeroderma pigmentosum (MONDO:0019600), ovarian cancer (MONDO:0008170)
Orphanet (3): Xeroderma pigmentosum (Orphanet:910), Rare ovarian cancer (Orphanet:213500), OBSOLETE: Xeroderma pigmentosum complementation group A (Orphanet:276249)
HPO phenotypes
72 total (30 of 72 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000135 | Hypogonadism |
| HP:0000164 | Abnormality of the dentition |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000491 | Keratitis |
| HP:0000498 | Blepharitis |
| HP:0000509 | Conjunctivitis |
| HP:0000518 | Cataract |
| HP:0000524 | Conjunctival telangiectasia |
| HP:0000613 | Photophobia |
| HP:0000621 | Entropion |
| HP:0000648 | Optic atrophy |
| HP:0000656 | Ectropion |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000963 | Thin skin |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0000995 | Melanocytic nevus |
| HP:0001009 | Telangiectasia |
| HP:0001029 | Poikiloderma |
| HP:0001034 | Hypermelanotic macule |
| HP:0001053 | Hypopigmented skin patches |
| HP:0001059 | Pterygium |
| HP:0001072 | Thickened skin |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000640_1 | Thyroid cancer (Papillary, radiation-related) | 5.000000e-12 |
| GCST001762_338 | Obesity-related traits | 1.000000e-09 |
| GCST002458_3 | Serum thyroid-stimulating hormone levels | 1.000000e-13 |
| GCST003988_4 | Hypothyroidism | 1.000000e-89 |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D010051 | Ovarian Neoplasms | C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705 |
| D014983 | Xeroderma Pigmentosum | C04.834.867; C16.131.831.936; C16.320.850.970; C17.800.600.925; C17.800.621.936; C17.800.804.936; C17.800.827.970; C18.452.284.975 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105801 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs1800975 | Efficacy | 3 | Platinum compounds | Non-Small Cell Lung Carcinoma |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1800975 | XPA | 3 | 2.25 | 1 | Platinum compounds |
ChEMBL bioactivities
13 potent at pChembl≥5 of 24 total, top 13 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.09 | IC50 | 820 | nM | CHEMBL4065804 |
| 5.89 | IC50 | 1300 | nM | CHEMBL4085647 |
| 5.80 | IC50 | 1600 | nM | CHEMBL4068522 |
| 5.71 | IC50 | 1930 | nM | CHEMBL4087223 |
| 5.32 | IC50 | 4820 | nM | CHEMBL4080244 |
| 5.28 | IC50 | 5230 | nM | CHEMBL4098283 |
| 5.17 | IC50 | 6800 | nM | CHEMBL4095853 |
| 5.08 | IC50 | 8400 | nM | CHEMBL4089182 |
| 5.04 | IC50 | 9100 | nM | CHEMBL4088120 |
| 5.04 | IC50 | 9100 | nM | CHEMBL4096889 |
| 5.04 | IC50 | 9100 | nM | CHEMBL4080393 |
| 5.02 | IC50 | 9600 | nM | CHEMBL4059855 |
| 5.01 | IC50 | 9800 | nM | CHEMBL4083144 |
PubChem BioAssay actives
13 with measured affinity, of 68 total; 13 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-chloro-5-[(4Z)-4-[[5-(4-chloro-3-phenylmethoxycarbonylphenyl)furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 0.8200 | uM |
| 2-chloro-5-[(4Z)-4-[[5-[4-chloro-3-[(2-chlorophenyl)methoxycarbonyl]phenyl]furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 1.3000 | uM |
| 2-chloro-5-[(4Z)-3-methyl-5-oxo-4-[[5-(3-propan-2-yloxycarbonylphenyl)furan-2-yl]methylidene]pyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 1.6000 | uM |
| 3-[(4Z)-4-[[5-[4-chloro-3-[(2-chlorophenyl)methoxycarbonyl]phenyl]furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 1.9300 | uM |
| 3-[(4Z)-4-[[5-(4-chloro-3-ethoxycarbonylphenyl)furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 4.8200 | uM |
| 2-chloro-5-[(4Z)-4-[[5-(3-ethoxycarbonylphenyl)furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 5.2300 | uM |
| 2-chloro-5-[(4Z)-4-[[5-(4-chloro-3-prop-2-enoxycarbonylphenyl)furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 6.8000 | uM |
| 4-[(4Z)-4-[[5-[4-chloro-3-[(4-fluorophenyl)methylcarbamoyl]phenyl]furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 8.4000 | uM |
| 3-[(4Z)-4-[[5-(3-butoxycarbonyl-4-chlorophenyl)furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 9.1000 | uM |
| 4-[(4Z)-4-[[5-[4-chloro-3-(cyclopropylmethylcarbamoyl)phenyl]furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 9.1000 | uM |
| 4-[(4Z)-4-[[5-[4-[(4-fluorophenyl)methylcarbamoyl]phenyl]furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 9.1000 | uM |
| 5-[(4Z)-4-[[5-(3-butoxycarbonyl-4-chlorophenyl)furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]-2-chlorobenzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 9.6000 | uM |
| 3-[(4Z)-4-[[5-[4-chloro-3-(cyclopropylmethylcarbamoyl)phenyl]furan-2-yl]methylidene]-3-methyl-5-oxopyrazol-1-yl]benzoic acid | 1452151: Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA by EMSA | ic50 | 9.8000 | uM |
CTD chemical–gene interactions
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Zinc | affects binding, decreases reaction, increases activity, decreases activity | 6 |
| sodium arsenite | decreases reaction, decreases expression, increases abundance, affects expression, affects binding (+1 more) | 5 |
| Benzo(a)pyrene | affects localization, increases expression, decreases reaction, affects response to substance, affects cotreatment (+1 more) | 5 |
| Cisplatin | increases expression, decreases response to substance, decreases reaction, increases phosphorylation, increases reaction | 4 |
| 2-chloroethyl ethyl sulfide | affects response to substance, decreases response to substance | 2 |
| Arsenic | decreases expression, increases abundance, decreases reaction, affects response to substance | 2 |
| Cadmium | affects binding | 2 |
| Mustard Gas | increases expression, decreases response to substance | 2 |
| Zidovudine | increases expression | 2 |
| Cadmium Chloride | decreases reaction, decreases activity, decreases expression | 2 |
| selenomethylselenocysteine | affects binding, decreases reaction | 1 |
| taxifolin | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| selenocystine | affects binding, decreases reaction | 1 |
| trichostatin A | decreases expression, decreases reaction, increases abundance | 1 |
| arsenite | affects reaction, decreases expression, increases expression | 1 |
| quinoline yellow | increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | affects cotreatment, decreases expression, increases expression | 1 |
| fludarabine | decreases expression, affects cotreatment | 1 |
| ebselen | decreases reaction, affects binding | 1 |
| 2-nitrophenyl selenocyanic acid | affects binding, decreases reaction | 1 |
| antimony trichloride | affects binding, decreases reaction | 1 |
| acylfulvene | increases response to substance | 1 |
| cisplatin-deoxy(guanosine monophosphate guanosine) adduct | decreases abundance | 1 |
| benzeneseleninic acid | affects binding, decreases reaction | 1 |
| Y 27632 | increases expression | 1 |
| octylmethoxycinnamate | decreases expression | 1 |
| LAQ824 | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4020070 | Binding | Inhibition of full length human XPA expressed in Sf9 cells assessed as reduction in interaction of XPA with 32P-labeled cisplatin-modified dsDNA at 12.5 to 100 uM by EMSA | Design and Structure-Guided Development of Novel Inhibitors of the Xeroderma Pigmentosum Group A (XPA) Protein-DNA Interaction. — J Med Chem |
Cellosaurus cell lines
169 cell lines: 125 finite cell line, 21 transformed cell line, 11 induced pluripotent stem cell, 11 cancer cell line, 1 telomerase immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1F08 | XPHM1WI | Finite cell line | Female |
| CVCL_1F19 | XPHF12BE | Finite cell line | Female |
| CVCL_1F20 | XPHF12BE LCL | Transformed cell line | Female |
| CVCL_1F21 | XPHM12BE | Finite cell line | Male |
| CVCL_1F22 | XPHM12BE LCL | Transformed cell line | Male |
| CVCL_1F23 | XPHM1WI LCL | Transformed cell line | Female |
| CVCL_3242 | XP2OS(SV) | Transformed cell line | Female |
| CVCL_3245 | XP3OS | Finite cell line | Female |
| CVCL_3246 | XP3OS(SVT) | Transformed cell line | Female |
| CVCL_3247 | XP35OS | Finite cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00190697 | PHASE4 | COMPLETED | A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment |
| NCT00277160 | PHASE4 | COMPLETED | A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer |
| NCT00727961 | PHASE4 | COMPLETED | A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED) |
| NCT00740116 | PHASE4 | COMPLETED | Tranexamic Acid in Surgery of Advanced Ovarian Cancer |
| NCT00817479 | PHASE4 | COMPLETED | Tumor Gene Expression in Women With Ovarian Cancer |
| NCT01432015 | PHASE4 | COMPLETED | Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting |
| NCT01706120 | PHASE4 | UNKNOWN | Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab |
| NCT01932125 | PHASE4 | COMPLETED | An Interventional Study of Avastin (Bevacizumab) in Patients With Advanced/Metastatic Epithelial Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer |
| NCT01953107 | PHASE4 | COMPLETED | Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates. |
| NCT02035345 | PHASE4 | TERMINATED | Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment |
| NCT02243059 | PHASE4 | WITHDRAWN | Magnetic Resonance Imaging for Lymph Node Staging in Ovarian Cancer |
| NCT03164980 | PHASE4 | TERMINATED | QoL-Comparison Between Trabectedin/PLD and Pt-based Therapy in Patients With Pt-sensitive Recurrent Ovarian Cancer |
| NCT03384511 | PHASE4 | COMPLETED | The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies. |
| NCT03543462 | PHASE4 | COMPLETED | Diaphragmatic Resection And Gynecological Ovarian Neoplasm |
| NCT03752216 | PHASE4 | COMPLETED | NIraparib and Quality of LifE is a Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib. |
| NCT03858166 | PHASE4 | TERMINATED | Efficacy and Safety of PEG-rhG-CSF Secondary Prophylaxis vs. Therapeutic Administration in Patients With Ovarian Cancer |
| NCT04024254 | PHASE4 | COMPLETED | A Study of Serum Folate Levels in Patients Treated With Olaparib |
| NCT04330040 | PHASE4 | COMPLETED | Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer |
| NCT04352439 | PHASE4 | COMPLETED | Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy |
| NCT05187208 | PHASE4 | UNKNOWN | PARP Inhibitor Oral Maintenance in Low-Risk Ovarian Cancer |
| NCT05606692 | PHASE4 | RECRUITING | Influences of Propofol and Sevoflurane Anesthesia in Ovarian Cancer (Anesthetics) |
| NCT05926336 | PHASE4 | RECRUITING | The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action |
| NCT06412120 | PHASE4 | RECRUITING | Study Evaluating Safety, Tolerability, and Metabolism of Niraparib |
| NCT06871787 | PHASE4 | NOT_YET_RECRUITING | Near-Infrared Fluorescence Imaging With Indocyanine Green to Evaluate Bowel Anastomoses in Gynecologic Oncology Surgery |
| NCT06887933 | PHASE4 | NOT_YET_RECRUITING | A Trial to Evaluate the Safety of Niraparib Tablets in Adult Female Participants With Advanced or Relapsed Epithelial Ovarian Cancer |
| NCT07469202 | PHASE4 | NOT_YET_RECRUITING | CYTALUX Dose Extension Study |
| NCT00001806 | PHASE3 | COMPLETED | Methods in Education for Breast Cancer Genetics |
| NCT00002477 | PHASE3 | UNKNOWN | Adjuvant Chemotherapy Compared With Observation in Treating Patients With Resected Early Stage Ovarian Epithelial Cancer |
| NCT00002568 | PHASE3 | COMPLETED | Combination Chemotherapy With or Without Surgery in Treating Patients With Stage III Ovarian Epithelial Cancer |
| NCT00002641 | PHASE3 | COMPLETED | Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma |
| NCT00002717 | PHASE3 | COMPLETED | Paclitaxel and Cisplatin in Treating Patients With Stage III or Stage IV Ovarian Cancer or Primary Peritoneal Cancer |
| NCT00002764 | PHASE3 | COMPLETED | Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma |
| NCT00002819 | PHASE3 | TERMINATED | Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Persistent Ovarian Epithelial Cancer |
| NCT00002894 | PHASE3 | COMPLETED | Platinum-based Chemotherapy With or Without Paclitaxel in Treating Patients With Relapsed Ovarian Cancer |
| NCT00002895 | PHASE3 | COMPLETED | Early Chemotherapy Based on CA 125 Level Alone Compared With Delayed Chemotherapy in Treating Patients With Recurrent Ovarian Epithelial , Fallopian Tube, or Primary Peritoneal Cancer |
| NCT00003120 | PHASE3 | COMPLETED | S9701 Paclitaxel in Treating Patients With Advanced Ovarian, Fallopian Tube, or Primary Peritoneal Cancer in Remission |
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| NCT00003322 | PHASE3 | COMPLETED | Combination Chemotherapy in Treating Patients With Primary Peritoneal or Stage III Epithelial Ovarian Cancer |
| NCT00003636 | PHASE3 | COMPLETED | Chemotherapy Plus Surgery in Treating Patients With Stage III or Stage IV Ovarian, Peritoneal, or Fallopian Tube Cancer |
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Related Atlas pages
- Associated diseases: xeroderma pigmentosum group A, xeroderma pigmentosum
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hypothyroidism, ovarian cancer, thyroid gland carcinoma, xeroderma pigmentosum, xeroderma pigmentosum group A