PTGR1
gene geneOn this page
Also known as ZADH3
Summary
PTGR1 (prostaglandin reductase 1, HGNC:18429) is a protein-coding gene on chromosome 9q31.3, encoding Prostaglandin reductase 1 (Q14914). NAD(P)H-dependent oxidoreductase involved in metabolic inactivation of pro- and anti-inflammatory eicosanoids: prostaglandins (PG), leukotrienes (LT) and lipoxins (LX).
This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 22949 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 77 total
- Druggable target: yes
- MANE Select transcript:
NM_001146108
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18429 |
| Approved symbol | PTGR1 |
| Name | prostaglandin reductase 1 |
| Location | 9q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZADH3 |
| Ensembl gene | ENSG00000106853 |
| Ensembl biotype | protein_coding |
| OMIM | 601274 |
| Entrez | 22949 |
Gene structure
Transcript identifiers
Ensembl transcripts: 29 — 24 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000309195, ENST00000374308, ENST00000374313, ENST00000374324, ENST00000407693, ENST00000422125, ENST00000466771, ENST00000485319, ENST00000538962, ENST00000878675, ENST00000878676, ENST00000878677, ENST00000878678, ENST00000878679, ENST00000878680, ENST00000878681, ENST00000878682, ENST00000878683, ENST00000878684, ENST00000878685, ENST00000878686, ENST00000878687, ENST00000916460, ENST00000916461, ENST00000916462, ENST00000916463, ENST00000947724, ENST00000947725, ENST00000947726
RefSeq mRNA: 3 — MANE Select: NM_001146108
NM_001146108, NM_001146109, NM_012212
CCDS: CCDS55331, CCDS6779
Canonical transcript exons
ENST00000407693 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001550419 | 111599603 | 111599647 |
| ENSE00003556058 | 111597317 | 111597432 |
| ENSE00003802362 | 111578796 | 111578951 |
| ENSE00003804466 | 111585998 | 111586165 |
| ENSE00003804741 | 111570091 | 111570209 |
| ENSE00003807576 | 111594222 | 111594267 |
| ENSE00003807961 | 111574734 | 111574842 |
| ENSE00003810161 | 111583472 | 111583589 |
| ENSE00003844330 | 111562567 | 111563231 |
| ENSE00003893846 | 111592926 | 111592982 |
Expression profiles
Bgee: expression breadth ubiquitous, 258 present calls, max score 99.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.3599 / max 1285.2682, expressed in 1571 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102019 | 20.4494 | 1488 |
| 102018 | 18.7817 | 1522 |
| 102020 | 6.1601 | 1340 |
| 205596 | 0.5665 | 327 |
| 102021 | 0.4022 | 209 |
Top tissues by expression
259 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 99.69 | gold quality |
| kidney epithelium | UBERON:0004819 | 99.60 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.45 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 99.05 | gold quality |
| right lobe of liver | UBERON:0001114 | 98.99 | gold quality |
| pancreatic ductal cell | CL:0002079 | 98.90 | gold quality |
| liver | UBERON:0002107 | 98.89 | gold quality |
| islet of Langerhans | UBERON:0000006 | 98.64 | gold quality |
| duodenum | UBERON:0002114 | 98.55 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.41 | gold quality |
| gingiva | UBERON:0001828 | 98.39 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 98.11 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.04 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.99 | gold quality |
| kidney | UBERON:0002113 | 97.58 | gold quality |
| renal medulla | UBERON:0000362 | 97.51 | gold quality |
| left adrenal gland | UBERON:0001234 | 97.46 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.23 | gold quality |
| esophagus mucosa | UBERON:0002469 | 97.21 | gold quality |
| oral cavity | UBERON:0000167 | 97.20 | gold quality |
| gall bladder | UBERON:0002110 | 96.98 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.90 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.70 | gold quality |
| small intestine | UBERON:0002108 | 96.61 | gold quality |
| caput epididymis | UBERON:0004358 | 96.48 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.43 | gold quality |
| metanephros | UBERON:0000081 | 96.42 | gold quality |
| adrenal gland | UBERON:0002369 | 96.37 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.34 | gold quality |
| corpus epididymis | UBERON:0004359 | 96.24 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 804.93 |
| E-HCAD-10 | yes | 34.51 |
| E-MTAB-10553 | yes | 30.23 |
| E-MTAB-3929 | no | 280.51 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting PTGR1, 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-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-190B-3P | 99.33 | 68.29 | 1382 |
| HSA-MIR-1911-5P | 98.92 | 67.53 | 325 |
| HSA-MIR-224-3P | 98.91 | 68.42 | 1815 |
| HSA-MIR-522-3P | 98.91 | 68.56 | 1817 |
| HSA-MIR-138-2-3P | 98.91 | 68.33 | 1643 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-3129-3P | 97.85 | 67.63 | 1246 |
| HSA-MIR-5583-5P | 97.85 | 67.61 | 1243 |
| HSA-MIR-1255B-2-3P | 97.80 | 67.04 | 880 |
| HSA-MIR-562 | 97.66 | 65.63 | 698 |
Literature-anchored findings (GeneRIF, showing 8)
- restoration of expression in enzyme-negative lung cancer cell lines induces apoptosis and growth inhibition (PMID:19595472)
- Data show that two genes, LTB4DH and DPYSL3, were confirmed to be candidate genes for the predictor of a good immune response. (PMID:20804502)
- These results situate PtGR-1 as a critical modulator of both the steady state levels and signaling activities of fatty acid nitroalkenes in vivo. (PMID:23878198)
- selenium had only a minor influence on prostaglandin reductase 1 (PTGR1) and NAD(P)H:quinone oxidoreductase 1 (NQO1) activity and protein levels (PMID:25179160)
- The data indicate that HMGB1-miR-522-3p-PTGR1 axis may be involved in the abnormal resolution of inflammation and suggest that this mechanism might be a target for modulation of chronic inflammatory disorder. (PMID:28088550)
- LTB4DH plays a pivotal role in alpha-galactosylceramide-pulsed dendritic cell immunotherapy for non-small cell lung cancer. (PMID:30336981)
- PTGR1 is involved in cell proliferation in thoracic ossification of the ligamentum flavum. (PMID:37910537)
- The human PTGR1 gene expression is controlled by TE-derived Z-DNA forming sequence cooperating with miR-6867-5p. (PMID:38413664)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ptgr1.1 | ENSDARG00000024877 |
| danio_rerio | ptgr1.2 | ENSDARG00000087017 |
| mus_musculus | Ptgr1 | ENSMUSG00000028378 |
| rattus_norvegicus | Ptgr1 | ENSRNOG00000015072 |
| caenorhabditis_elegans | WBGENE00010790 | |
| caenorhabditis_elegans | WBGENE00010791 | |
| caenorhabditis_elegans | WBGENE00017060 |
Paralogs (17): VAT1 (ENSG00000108828), TP53I3 (ENSG00000115129), MECR (ENSG00000116353), CRYZ (ENSG00000116791), RTN4IP1 (ENSG00000130347), PTGR2 (ENSG00000140043), SORD (ENSG00000140263), VAT1L (ENSG00000171724), ADH6 (ENSG00000172955), PTGR3 (ENSG00000180011), ADH1A (ENSG00000187758), ADH7 (ENSG00000196344), ADH1B (ENSG00000196616), ADH5 (ENSG00000197894), ADH4 (ENSG00000198099), CRYZL1 (ENSG00000205758), ADH1C (ENSG00000248144)
Protein
Protein identifiers
Prostaglandin reductase 1 — Q14914 (reviewed: Q14914)
Alternative names: 15-oxoprostaglandin 13-reductase, Dithiolethione-inducible gene 1 protein, Leukotriene B4 12-hydroxydehydrogenase, NAD(P)H-dependent alkenal/one oxidoreductase
All UniProt accessions (4): Q14914, F2Z3J9, F6XGT7, Q5JVP2
UniProt curated annotations — full annotation on UniProt →
Function. NAD(P)H-dependent oxidoreductase involved in metabolic inactivation of pro- and anti-inflammatory eicosanoids: prostaglandins (PG), leukotrienes (LT) and lipoxins (LX). Catalyzes with high efficiency the reduction of the 13,14 double bond of 15-oxoPGs, including 15-oxo-PGE1, 15-oxo-PGE2, 15-oxo-PGF1-alpha and 15-oxo-PGF2-alpha. Catalyzes with lower efficiency the oxidation of the hydroxyl group at C12 of LTB4 and its derivatives, converting them into biologically less active 12-oxo-LTB4 metabolites. Reduces 15-oxo-LXA4 to 13,14 dihydro-15-oxo-LXA4, enhancing neutrophil recruitment at the inflammatory site. May play a role in metabolic detoxification of alkenals and ketones. Reduces alpha,beta-unsaturated alkenals and ketones, particularly those with medium-chain length, showing highest affinity toward (2E)-decenal and (3E)-3-nonen-2-one. May inactivate 4-hydroxy-2-nonenal, a cytotoxic lipid constituent of oxidized low-density lipoprotein particles.
Subunit / interactions. Monomer or homodimer.
Subcellular location. Cytoplasm.
Tissue specificity. High expression in the kidney, liver, and intestine but not in leukocytes.
Similarity. Belongs to the NADP-dependent oxidoreductase L4BD family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q14914-1 | 1 | yes |
| Q14914-2 | 2 |
RefSeq proteins (3): NP_001139580, NP_001139581, NP_036344 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011032 | GroES-like_sf | Homologous_superfamily |
| IPR013149 | ADH-like_C | Domain |
| IPR014190 | PTGR1 | Family |
| IPR020843 | ER | Domain |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR041694 | ADH_N_2 | Domain |
| IPR045010 | MDR_fam | Family |
Pfam: PF00107, PF16884
Catalyzed reactions (Rhea), 12 shown:
- 13,14-dihydro-15-oxo-prostaglandin E2 + NADP(+) = 15-oxoprostaglandin E2 + NADPH + H(+) (RHEA:11912)
- an n-alkanal + NADP(+) = an alk-2-enal + NADPH + H(+) (RHEA:13737)
- 13,14-dihydro-15-oxo-prostaglandin E1 + NADP(+) = 15-oxoprostaglandin E1 + NADPH + H(+) (RHEA:50584)
- 13,14-dihydro-15-oxo-PGF2alpha + NADP(+) = 15-oxoprostaglandin F2alpha + NADPH + H(+) (RHEA:50588)
- 13,14-dihydro-15-oxo-prostaglandin F1alpha + NADP(+) = 15-oxoprostaglandin F1alpha + NADPH + H(+) (RHEA:50592)
- leukotriene B4 + NADP(+) = 12-oxo-leukotriene B4 + NADPH + H(+) (RHEA:50608)
- decanal + NADP(+) = (2E)-decenal + NADPH + H(+) (RHEA:50612)
- nonan-2-one + NADP(+) = (3E)-nonen-2-one + NADPH + H(+) (RHEA:50616)
- hexanal + NADP(+) = (E)-hex-2-enal + NADPH + H(+) (RHEA:50776)
- octanal + NADP(+) = (2E)-octenal + NADPH + H(+) (RHEA:50780)
- dodecanal + NADP(+) = (2E)-dodecenal + NADPH + H(+) (RHEA:50784)
- pentan-2-one + NADP(+) = (E)-pent-3-en-2-one + NADPH + H(+) (RHEA:50788)
UniProt features (49 total): strand 15, helix 15, binding site 7, modified residue 4, mutagenesis site 2, turn 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9D6Z | X-RAY DIFFRACTION | 1.75 |
| 9D6X | X-RAY DIFFRACTION | 1.95 |
| 9D71 | X-RAY DIFFRACTION | 2 |
| 9MDE | X-RAY DIFFRACTION | 2 |
| 9D6W | X-RAY DIFFRACTION | 2.1 |
| 9MDF | X-RAY DIFFRACTION | 2.1 |
| 2Y05 | X-RAY DIFFRACTION | 2.2 |
| 1ZSV | X-RAY DIFFRACTION | 2.3 |
| 9MDH | X-RAY DIFFRACTION | 2.3 |
| 9D6Y | X-RAY DIFFRACTION | 2.35 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q14914-F1 | 97.43 | 0.99 |
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 (7): 152–155; 178; 193; 217; 239–245; 270–272; 321
Post-translational modifications (4): 178, 178, 18, 20
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 56 | markedly decreases the catalytic efficiency toward 15-oxoprostaglandin e2. |
| 245 | markedly decreases the catalytic efficiency toward 15-oxoprostaglandin e2 and (3e)-3-nonen-2-one. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2142691 | Synthesis of Leukotrienes (LT) and Eoxins (EX) |
| R-HSA-2142700 | Biosynthesis of Lipoxins (LX) |
MSigDB gene sets: 222 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, HOFFMANN_SMALL_PRE_BII_TO_IMMATURE_B_LYMPHOCYTE_DN, XU_GH1_AUTOCRINE_TARGETS_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, ROZANOV_MMP14_TARGETS_UP, HSIAO_LIVER_SPECIFIC_GENES
GO Biological Process (6): leukotriene metabolic process (GO:0006691), prostaglandin metabolic process (GO:0006693), leukotriene B4 metabolic process (GO:0036102), lipoxin A4 metabolic process (GO:2001302), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)
GO Molecular Function (8): 2-alkenal reductase (NADPH) activity (GO:0035798), 13-lipoxin reductase activity (GO:0036185), 15-oxoprostaglandin 13-reductase [NAD(P)+] activity (GO:0047522), leukotriene B4 12-hydroxy dehydrogenase activity (GO:0097257), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628), 2-alkenal reductase [NAD(P)H] activity (GO:0032440)
GO Cellular Component (2): cytoplasm (GO:0005737), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Arachidonate metabolism | 1 |
| Biosynthesis of specialized proresolving mediators (SPMs) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| long-chain fatty acid metabolic process | 2 |
| fatty acid derivative metabolic process | 2 |
| oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor | 2 |
| icosanoid metabolic process | 1 |
| prostanoid metabolic process | 1 |
| leukotriene metabolic process | 1 |
| unsaturated fatty acid metabolic process | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| 2-alkenal reductase [NAD(P)H] activity | 1 |
| oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 1 |
| oxidoreductase activity, acting on CH-OH group of donors | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on the CH-CH group of donors | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1226 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PTGR1 | HPGD | P15428 | 565 |
| PTGR1 | DHCR24 | Q15392 | 514 |
| PTGR1 | LTA4H | P09960 | 488 |
| PTGR1 | ARG2 | P78540 | 452 |
| PTGR1 | NQO1 | P15559 | 433 |
| PTGR1 | ARG1 | P05089 | 432 |
| PTGR1 | PTGER4 | P35408 | 422 |
| PTGR1 | BPIFB2 | Q8N4F0 | 414 |
| PTGR1 | AKR1C1 | P52896 | 410 |
| PTGR1 | MGAT4B | Q9UQ53 | 391 |
| PTGR1 | TXNRD1 | Q16881 | 384 |
| PTGR1 | ARCN1 | P48444 | 375 |
| PTGR1 | DSC3 | Q14574 | 374 |
| PTGR1 | PTGES | O14684 | 363 |
| PTGR1 | METAP1D | Q6UB28 | 347 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PTGR1 | JPH3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ENG | IGKV2-28 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TNFRSF10A | psi-mi:“MI:0914”(association) | 0.350 | |
| SRRT | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL49 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| SMPD2 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| OBI1 | PTGR1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| PTGR1 | ychF | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (65): ADH5 (Co-fractionation), ADK (Co-fractionation), AKR1A1 (Co-fractionation), ASS1 (Co-fractionation), CFL1 (Co-fractionation), GOT1 (Co-fractionation), GOT2 (Co-fractionation), HINT1 (Co-fractionation), PRDX6 (Co-fractionation), PTGR1 (Co-fractionation), PTGR1 (Affinity Capture-MS), PTGR1 (Affinity Capture-MS), PTGR1 (Affinity Capture-MS), PTGR1 (Affinity Capture-MS), PTGR1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0D2YG03, A0A161CAI1, A0A3Q9U4Z5, A0A8F4S717, A0A8K1AWG4, A0A9E7LUR3, B2NI93, B8NTZ8, E5AE42, G4MVZ3, N4WR35, O34812, O42909, O94564, P0DXJ1, P25377, P25608, P53912, P54007, P76113, P93243, P97584, Q03102, Q0V6Q3, Q14914, Q28719, Q29073, Q32L99, Q39172, Q39173, Q3SZJ4, Q5BK81, Q5R806, Q6WAU0, Q8H0M1, Q8J0F9, Q8N8N7, Q8VDQ1, Q91YR9, Q9C0Y6
Diamond homologs: A0A0D2YG03, A0A4P8DJV2, A5ABG0, B8NTZ8, D7UPN2, N4WR35, O34812, P97584, Q14914, Q28719, Q29073, Q39172, Q39173, Q3SZJ4, Q5BA83, Q6WAU0, Q86ZD9, Q91YR9, Q9C0Y6, Q9EQZ5, Q9SLN8, S0DRW9, W7NCN7, A0A345BJP0, A0A3G1DJH7, P76113, Q24K16, Q32L99, Q5BK81, Q5R806, Q8N8N7, Q8VDQ1, G0LET7, O00097, O23939, P08843, P42865, Q03102, Q5AY39, Q84V25
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 43 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1567 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:111570086:CTTA:C | donor_loss | 1.0000 |
| 9:111570087:TTAC:T | donor_loss | 1.0000 |
| 9:111570088:TA:T | donor_loss | 1.0000 |
| 9:111570089:A:AC | donor_gain | 1.0000 |
| 9:111570090:C:CC | donor_gain | 1.0000 |
| 9:111570090:CCT:C | donor_gain | 1.0000 |
| 9:111570210:C:CC | acceptor_gain | 1.0000 |
| 9:111574839:CTAC:C | acceptor_gain | 1.0000 |
| 9:111578792:TTA:T | donor_loss | 1.0000 |
| 9:111578794:A:AC | donor_gain | 1.0000 |
| 9:111578794:ACATT:A | donor_loss | 1.0000 |
| 9:111578795:C:CA | donor_gain | 1.0000 |
| 9:111578795:CA:C | donor_gain | 1.0000 |
| 9:111578795:CAT:C | donor_gain | 1.0000 |
| 9:111578795:CATT:C | donor_gain | 1.0000 |
| 9:111578795:CATTA:C | donor_gain | 1.0000 |
| 9:111578947:CAGCC:C | acceptor_gain | 1.0000 |
| 9:111578948:AGCC:A | acceptor_gain | 1.0000 |
| 9:111578949:GCC:G | acceptor_gain | 1.0000 |
| 9:111578950:CC:C | acceptor_gain | 1.0000 |
| 9:111578950:CCC:C | acceptor_gain | 1.0000 |
| 9:111578951:CC:C | acceptor_gain | 1.0000 |
| 9:111578952:C:CC | acceptor_gain | 1.0000 |
| 9:111578952:C:CG | acceptor_loss | 1.0000 |
| 9:111578952:C:T | acceptor_gain | 1.0000 |
| 9:111578956:G:C | acceptor_gain | 1.0000 |
| 9:111583467:CTTA:C | donor_loss | 1.0000 |
| 9:111583468:TTACC:T | donor_loss | 1.0000 |
| 9:111583469:TAC:T | donor_loss | 1.0000 |
| 9:111583470:A:AG | donor_loss | 1.0000 |
AlphaMissense
2132 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:111586104:A:G | W91R | 0.992 |
| 9:111586104:A:T | W91R | 0.992 |
| 9:111578802:A:C | F215L | 0.989 |
| 9:111578802:A:T | F215L | 0.989 |
| 9:111578804:A:G | F215L | 0.989 |
| 9:111583581:G:T | A129D | 0.986 |
| 9:111574775:C:T | G240E | 0.985 |
| 9:111583523:A:C | N148K | 0.984 |
| 9:111583523:A:T | N148K | 0.984 |
| 9:111583482:G:T | A162E | 0.983 |
| 9:111594234:T:C | D47G | 0.983 |
| 9:111594234:T:A | D47V | 0.982 |
| 9:111594240:G:A | T45I | 0.982 |
| 9:111574777:A:C | C239W | 0.981 |
| 9:111592930:C:G | A69P | 0.980 |
| 9:111574793:C:T | G234E | 0.979 |
| 9:111583527:A:T | V147D | 0.978 |
| 9:111574778:C:T | C239Y | 0.977 |
| 9:111578796:A:C | N217K | 0.976 |
| 9:111578796:A:T | N217K | 0.976 |
| 9:111578800:T:A | D216V | 0.976 |
| 9:111578801:C:G | D216H | 0.976 |
| 9:111583518:G:T | A150E | 0.976 |
| 9:111563139:C:A | K324N | 0.975 |
| 9:111563139:C:G | K324N | 0.975 |
| 9:111574784:G:T | A237D | 0.975 |
| 9:111574817:A:T | V226D | 0.975 |
| 9:111578935:C:T | G171E | 0.975 |
| 9:111583503:C:T | G155D | 0.975 |
| 9:111574793:C:A | G234V | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000032156 (9:111567663 T>C), RS1000083892 (9:111567971 G>T), RS1000088513 (9:111554439 C>G,T), RS1000184966 (9:111593133 G>C), RS1000295377 (9:111586637 T>A,G), RS1000300035 (9:111555015 G>A), RS1000331823 (9:111562164 C>T), RS1000367228 (9:111599739 G>A,C), RS1000448330 (9:111579664 C>T), RS1000468560 (9:111592826 A>C), RS1000538057 (9:111598376 T>C), RS1000692079 (9:111587107 G>A), RS1000728768 (9:111579192 G>A), RS1000756515 (9:111585456 G>A), RS1000821206 (9:111599956 G>C)
Disease associations
OMIM: gene MIM:601274 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001887_3 | Monocyte count | 5.000000e-07 |
| GCST003993_7 | Menarche (age at onset) | 2.000000e-08 |
| GCST006585_2714 | Blood protein levels | 2.000000e-38 |
| GCST008762_8 | Intake of sweets | 3.000000e-07 |
| GCST008839_537 | Height | 4.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005091 | monocyte count |
| EFO:0004703 | age at menarche |
| EFO:0010158 | sugar consumption measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295822 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
112 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects expression, decreases expression, increases expression, increases methylation | 10 |
| Valproic Acid | affects cotreatment, increases expression | 5 |
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 3 |
| Particulate Matter | affects expression, increases reaction, increases expression, decreases expression, increases abundance | 3 |
| bisphenol A | decreases expression, affects expression | 2 |
| lead acetate | increases expression | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| cobaltous chloride | affects cotreatment, increases expression | 2 |
| acylfulvene | affects reaction, increases response to substance, increases activity | 2 |
| Arsenic Trioxide | increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Vehicle Emissions | affects expression, increases reaction, decreases expression, increases abundance | 2 |
| Cisplatin | affects cotreatment, increases expression, affects expression | 2 |
| Fluorouracil | increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tetrachlorodibenzodioxin | increases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| Lactic Acid | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| 15-keto-13,14-dihydroprostaglandin F2alpha | increases abundance, increases metabolic processing | 1 |
| 15-ketoprostaglandin E | increases metabolic processing, increases abundance | 1 |
| trichostatin A | increases expression | 1 |
| nimesulide | affects activity | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sulforaphane | increases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118750 | Binding | Binding affinity to PTGR1 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2CP | Abcam HeLa PTGR1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.