SLCO3A1
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Also known as OATP-DOATP3A1
Summary
SLCO3A1 (solute carrier organic anion transporter family member 3A1, HGNC:10952) is a protein-coding gene on chromosome 15q26.1, encoding Solute carrier organic anion transporter family member 3A1 (Q9UIG8). Putative organic anion antiporter with apparent broad substrate specificity.
Enables organic anion transmembrane transporter activity and prostaglandin transmembrane transporter activity. Involved in positive regulation of MAPK cascade; positive regulation of canonical NF-kappaB signal transduction; and prostaglandin transport. Located in basal plasma membrane.
Source: NCBI Gene 28232 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 89 total
- Druggable target: yes
- MANE Select transcript:
NM_013272
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10952 |
| Approved symbol | SLCO3A1 |
| Name | solute carrier organic anion transporter family member 3A1 |
| Location | 15q26.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OATP-D, OATP3A1 |
| Ensembl gene | ENSG00000176463 |
| Ensembl biotype | protein_coding |
| OMIM | 612435 |
| Entrez | 28232 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 5 protein_coding_CDS_not_defined, 3 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000318445, ENST00000424469, ENST00000553304, ENST00000553653, ENST00000555111, ENST00000555210, ENST00000555513, ENST00000555549, ENST00000555769, ENST00000555892, ENST00000556649, ENST00000564072, ENST00000566477
RefSeq mRNA: 2 — MANE Select: NM_013272
NM_001145044, NM_013272
CCDS: CCDS10371, CCDS45354
Canonical transcript exons
ENST00000318445 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001290397 | 92162756 | 92165903 |
| ENSE00001931253 | 91853708 | 91854088 |
| ENSE00003461581 | 92146984 | 92147159 |
| ENSE00003473391 | 92094881 | 92094979 |
| ENSE00003504132 | 92150950 | 92151014 |
| ENSE00003514793 | 92120465 | 92120629 |
| ENSE00003519263 | 91915993 | 91916458 |
| ENSE00003585655 | 92128351 | 92128489 |
| ENSE00003637320 | 92126061 | 92126259 |
| ENSE00003650915 | 92104279 | 92104542 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 95.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2252 / max 315.2002, expressed in 1427 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 148585 | 8.1715 | 1387 |
| 148586 | 0.9032 | 453 |
| 148603 | 0.0829 | 35 |
| 148587 | 0.0410 | 9 |
| 148604 | 0.0136 | 8 |
| 148602 | 0.0130 | 3 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 95.41 | gold quality |
| endothelial cell | CL:0000115 | 95.15 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.88 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 94.78 | gold quality |
| blood | UBERON:0000178 | 94.14 | gold quality |
| spinal cord | UBERON:0002240 | 94.14 | gold quality |
| left testis | UBERON:0004533 | 94.01 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 93.42 | gold quality |
| right testis | UBERON:0004534 | 93.38 | gold quality |
| sperm | CL:0000019 | 92.19 | gold quality |
| testis | UBERON:0000473 | 92.09 | gold quality |
| cortical plate | UBERON:0005343 | 91.93 | gold quality |
| corpus callosum | UBERON:0002336 | 91.72 | gold quality |
| visceral pleura | UBERON:0002401 | 91.72 | gold quality |
| monocyte | CL:0000576 | 91.68 | gold quality |
| cranial nerve II | UBERON:0000941 | 91.56 | gold quality |
| apex of heart | UBERON:0002098 | 91.56 | gold quality |
| leukocyte | CL:0000738 | 91.46 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.37 | gold quality |
| mononuclear cell | CL:0000842 | 91.35 | gold quality |
| pericardium | UBERON:0002407 | 91.34 | gold quality |
| male germ cell | CL:0000015 | 91.31 | gold quality |
| cardiac ventricle | UBERON:0002082 | 91.23 | gold quality |
| granulocyte | CL:0000094 | 91.06 | gold quality |
| right atrium auricular region | UBERON:0006631 | 91.00 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 90.88 | gold quality |
| nipple | UBERON:0002030 | 90.75 | gold quality |
| ventral tegmental area | UBERON:0002691 | 90.64 | gold quality |
| medulla oblongata | UBERON:0001896 | 90.38 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.27 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 24.13 |
| E-ANND-3 | yes | 9.98 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
144 targeting SLCO3A1, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
Literature-anchored findings (GeneRIF, showing 9)
- OATP-D plays an important role in translocating prostaglandins in specialized tissues and cells. (PMID:14631946)
- Further evidence is provided for the involvement of OATPs in oligopeptide transport. OATP3A1 variants might be involved in the regulation of extracellular vasopressin concentration in human brain. (PMID:16971491)
- tissue-specific localization of OATP2B1, OATP3A1 and OATP5A1 has been analyzed in normal mammary tissue and corresponding breast cancer tissues. (PMID:21278488)
- Compared with the adult cerebral cortex, mRNAs encoding OATP1A2, OATP1C1, OATP3A1 variant 2, OATP4A1, LAT2 and CD98 were reduced in fetal cortex at different gestational ages, whilst mRNAs encoding MCT8, MCT10, OATP3A1 variant 1 and LAT1 were similar. (PMID:21486766)
- Single nucleotide polymorhpisms of SLCO3A1 were associated with nicotine dependence. (PMID:22377092)
- SLCO3A1, a novel Crohn’s disease-associated gene, mediates inflammatory processes in intestinal epithelial cells through NF-kappaB transcription activation. (PMID:24945726)
- our results revealed altered OATP3A1 and OATP4A1 mRNA levels and novel mechanisms that might be involved in their regulation in colorectal cancer (PMID:26349991)
- OATP3A1 functions as a bile acid efflux transporter that is up-regulated as an adaptive response to cholestasis. (PMID:30063921)
- Tumor necrosis factor alpha upregulates the bile acid efflux transporter OATP3A1 via multiple signaling pathways in cholestasis. (PMID:34971708)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slco3a1a | ENSDARG00000018726 |
| danio_rerio | slco3a1b | ENSDARG00000068296 |
| mus_musculus | Slco3a1 | ENSMUSG00000025790 |
| rattus_norvegicus | Slco3a1 | ENSRNOG00000032798 |
| drosophila_melanogaster | Oatp30B | FBGN0032123 |
Paralogs (10): SLCO1A2 (ENSG00000084453), SLCO4A1 (ENSG00000101187), SLCO1B3 (ENSG00000111700), SLCO1B1 (ENSG00000134538), SLCO2B1 (ENSG00000137491), SLCO5A1 (ENSG00000137571), SLCO1C1 (ENSG00000139155), SLCO4C1 (ENSG00000173930), SLCO2A1 (ENSG00000174640), SLCO6A1 (ENSG00000205359)
Protein
Protein identifiers
Solute carrier organic anion transporter family member 3A1 — Q9UIG8 (reviewed: Q9UIG8)
Alternative names: Organic anion transporter polypeptide-related protein 3, Organic anion-transporting polypeptide D, PGE1 transporter, Sodium-independent organic anion transporter D, Solute carrier family 21 member 11
All UniProt accessions (4): Q9UIG8, G3V2B7, G3V3K4, H0YJM0
UniProt curated annotations — full annotation on UniProt →
Function. Putative organic anion antiporter with apparent broad substrate specificity. Recognizes various substrates including thyroid hormone L-thyroxine, prostanoids such as prostaglandin E1 and E2, bile acids such as taurocholate, glycolate and glycochenodeoxycholate and peptide hormones such as L-arginine vasopressin, likely operating in a tissue-specific manner. The transport mechanism, its electrogenicity and potential tissue-specific counterions remain to be elucidated. Mediates transport of tryptophan, phenyalanine and tyrosine. Mediates transport of steroid hormone precursors dehydroepiandrosterone 3-sulfate and estrone 3-sulfate. Mediates transport of steroid hormone precursors dehydroepiandrosterone 3-sulfate and estrone 3-sulfate. Mediates transport of steroid hormone precursors dehydroepiandrosterone 3-sulfate and estrone 3-sulfate.
Subcellular location. Basolateral cell membrane Apical cell membrane. Basal cell membrane Apical cell membrane.
Tissue specificity. Generally the expression of isoform 1 is higher than that of isoform 2. Expressed in placental trophoblasts. Expressed in pancreas, kidney, liver, lung, brain, heart, cerebellum, peripheral blood leukocyte, colon, small intestine, ovary, testis, prostate, thyroid, thymus and spleen. Expressed in fetal brain, heart, kidney, liver, lung, skeletal muscle, spleen and pancreas. In testis, detected in spermatogonia at different stages and absent from Sertoli cells. Expressed in the choroid plexus epithelium, at the basolateral membrane. In brain, also very abundant in the gray matter of the frontal cortex, but not associated with neuronal cell bodies. Not detected in the white matter. Expressed in heart, brain, cerebellum, testis, lung, thyroid, spoleen and liver. In testis, primarily localized to the basal membrane of Sertoli cells and weakly expressed within the tubules. In testis, also present in spermatogonia at different stages. In brain, expressed in the choroid plexus epithelium, at the apical membrane as well as in the subapical intracellular vesicular compartments. In brain, also associated with neuronal bodies and axons in both the gray and the white matters of the frontal cortex. Highly expressed in the brain and testis (at protein level). Ubiquitous.
Activity regulation. Stimulated by extracellular acidic pH.
Induction. Transcriptionally up-regulated by SP1 and RELA in response to FGF19.
Similarity. Belongs to the organo anion transporter (TC 2.A.60) family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UIG8-1 | 1, OATP3A1-v1 | yes |
| Q9UIG8-2 | 2, OATP3A1-v2 | |
| Q9UIG8-3 | 3 | |
| Q9UIG8-4 | 4 | |
| Q9UIG8-5 | 5, OATP3A1-v3 |
RefSeq proteins (2): NP_001138516, NP_037404* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002350 | Kazal_dom | Domain |
| IPR004156 | OATP | Family |
| IPR036058 | Kazal_dom_sf | Homologous_superfamily |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
Pfam: PF03137, PF07648
Catalyzed reactions (Rhea), 12 shown:
- L-phenylalanine(in) = L-phenylalanine(out) (RHEA:27950)
- prostaglandin E1(out) = prostaglandin E1(in) (RHEA:50980)
- prostaglandin E2(out) = prostaglandin E2(in) (RHEA:50984)
- prostaglandin F2alpha(out) = prostaglandin F2alpha(in) (RHEA:50988)
- L-tyrosine(in) = L-tyrosine(out) (RHEA:68572)
- L-tryptophan(in) = L-tryptophan(out) (RHEA:70947)
- (5Z,8Z,11Z,14Z)-eicosatetraenoate(out) = (5Z,8Z,11Z,14Z)-eicosatetraenoate(in) (RHEA:71395)
- taurocholate(out) = taurocholate(in) (RHEA:71703)
- L-thyroxine(out) = L-thyroxine(in) (RHEA:71819)
- estrone 3-sulfate(out) = estrone 3-sulfate(in) (RHEA:71835)
- dehydroepiandrosterone 3-sulfate(out) = dehydroepiandrosterone 3-sulfate(in) (RHEA:71839)
- glycocholate(out) = glycocholate(in) (RHEA:71851)
UniProt features (52 total): topological domain 13, transmembrane region 12, glycosylation site 7, splice variant 7, sequence conflict 4, disulfide bond 3, chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UIG8-F1 | 75.19 | 0.37 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 1
Disulfide bonds (3): 471–501, 477–497, 486–511
Glycosylation sites (7): 153, 169, 381, 457, 502, 505, 519
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-879518 | Organic anion transport by SLCO transporters |
MSigDB gene sets: 0 (showing top):
GO Biological Process (11): monoatomic ion transport (GO:0006811), obsolete organic anion transport (GO:0015711), prostaglandin transport (GO:0015732), phenylalanine transport (GO:0015823), tryptophan transport (GO:0015827), tyrosine transport (GO:0015828), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), sodium-independent organic anion transport (GO:0043252), positive regulation of MAPK cascade (GO:0043410), transport across blood-brain barrier (GO:0150104), transmembrane transport (GO:0055085)
GO Molecular Function (4): obsolete organic anion transmembrane transporter activity (GO:0008514), prostaglandin transmembrane transporter activity (GO:0015132), obsolete sodium-independent organic anion transmembrane transporter activity (GO:0015347), protein binding (GO:0005515)
GO Cellular Component (5): plasma membrane (GO:0005886), basal plasma membrane (GO:0009925), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transport of organic anions | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| plasma membrane region | 3 |
| transport | 2 |
| aromatic amino acid transport | 2 |
| positive regulation of intracellular signal transduction | 2 |
| fatty acid transport | 1 |
| icosanoid transport | 1 |
| carboxylic acid transport | 1 |
| nitrogen compound transport | 1 |
| amino acid transport | 1 |
| L-amino acid transport | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| transmembrane transport | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| vascular transport | 1 |
| cellular process | 1 |
| prostaglandin transport | 1 |
| icosanoid transmembrane transporter activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| basal part of cell | 1 |
| basal plasma membrane | 1 |
| apical part of cell | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
928 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLCO3A1 | SLC22A5 | O76082 | 592 |
| SLCO3A1 | SLC22A8 | Q8TCC7 | 571 |
| SLCO3A1 | SLC22A11 | Q9NSA0 | 569 |
| SLCO3A1 | SLC22A4 | Q9H015 | 567 |
| SLCO3A1 | SLC22A9 | Q8IVM8 | 567 |
| SLCO3A1 | SLC22A7 | Q9Y694 | 517 |
| SLCO3A1 | SLCO2B1 | O94956 | 499 |
| SLCO3A1 | HSD17B2 | P37059 | 496 |
| SLCO3A1 | SLC29A2 | Q14542 | 488 |
| SLCO3A1 | ABCC4 | O15439 | 481 |
| SLCO3A1 | SLC16A10 | Q8TF71 | 481 |
| SLCO3A1 | SLC22A6 | Q4U2R8 | 475 |
| SLCO3A1 | SLC16A2 | P36021 | 474 |
| SLCO3A1 | SLC22A10 | Q63ZE4 | 472 |
| SLCO3A1 | FRMD4A | Q9P2Q2 | 463 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NPC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLCO3A1 | STX6 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (35): SLCO3A1 (Affinity Capture-MS), SLCO3A1 (Affinity Capture-RNA), SLCO3A1 (Two-hybrid), SLCO3A1 (Two-hybrid), SLCO3A1 (Two-hybrid), TUSC5 (Two-hybrid), SLCO3A1 (Proximity Label-MS), SLCO3A1 (Proximity Label-MS), SLCO3A1 (Proximity Label-MS), SLCO3A1 (Affinity Capture-MS), SLCO3A1 (Affinity Capture-MS), SLCO3A1 (Affinity Capture-MS), SLCO3A1 (Affinity Capture-MS), SLCO3A1 (Affinity Capture-MS), SLCO3A1 (Affinity Capture-MS)
ESM2 similar proteins: A1Z7R6, A2AWR3, A4IF94, A4IHK6, A5D7V7, B2RXV4, B2RYH9, O75387, P34711, P42557, P58355, P70187, Q09428, Q0P5V9, Q0VCM6, Q4LE88, Q5BK75, Q5BKX6, Q5F4B8, Q5RBM3, Q5RF58, Q5SR56, Q7Z3Q1, Q866G7, Q8BIV7, Q8BSM7, Q8C0T7, Q8CA03, Q8CGA3, Q8CIA9, Q8HYW2, Q8K0H7, Q8K4S3, Q8N370, Q8NBP5, Q8R3L5, Q96MC6, Q99624, Q99N02, Q9BY10
Diamond homologs: F5H094, G3V0H7, O35913, O88397, O94956, P46720, P46721, P70502, Q00910, Q5RFF0, Q6ZQN7, Q71MB6, Q8BGD4, Q8BXB6, Q8HYW2, Q8R3L5, Q91YY5, Q92959, Q96BD0, Q99J94, Q99N01, Q99N02, Q9EP96, Q9EPT5, Q9EPZ7, Q9ERB5, Q9GMU6, Q9H2Y9, Q9JHI3, Q9JJL3, Q9NPD5, Q9NYB5, Q9QXZ6, Q9QYE2, Q9QZX8, Q9UIG8, Q9Y6L6, Q8K078, Q86UG4, Q8C0X7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4551 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:91915990:CAG:C | acceptor_loss | 1.0000 |
| 15:91915991:A:T | acceptor_loss | 1.0000 |
| 15:91915991:AG:A | acceptor_gain | 1.0000 |
| 15:91915991:AGGT:A | acceptor_gain | 1.0000 |
| 15:91915992:GG:G | acceptor_gain | 1.0000 |
| 15:91915992:GGT:G | acceptor_gain | 1.0000 |
| 15:91915992:GGTG:G | acceptor_gain | 1.0000 |
| 15:91915992:GGTGA:G | acceptor_gain | 1.0000 |
| 15:91916436:G:GT | donor_gain | 1.0000 |
| 15:92094876:TTCA:T | acceptor_loss | 1.0000 |
| 15:92094878:CAGG:C | acceptor_loss | 1.0000 |
| 15:92094879:A:AG | acceptor_gain | 1.0000 |
| 15:92094879:AG:A | acceptor_gain | 1.0000 |
| 15:92094880:G:A | acceptor_loss | 1.0000 |
| 15:92094880:G:GA | acceptor_gain | 1.0000 |
| 15:92094880:GG:G | acceptor_gain | 1.0000 |
| 15:92094880:GGA:G | acceptor_gain | 1.0000 |
| 15:92094977:CAA:C | donor_gain | 1.0000 |
| 15:92094980:G:GG | donor_gain | 1.0000 |
| 15:92094985:G:GT | donor_gain | 1.0000 |
| 15:92120462:CAG:C | acceptor_loss | 1.0000 |
| 15:92120463:A:AG | acceptor_gain | 1.0000 |
| 15:92120463:A:T | acceptor_loss | 1.0000 |
| 15:92120463:AGT:A | acceptor_gain | 1.0000 |
| 15:92120464:G:GT | acceptor_gain | 1.0000 |
| 15:92120464:GT:G | acceptor_gain | 1.0000 |
| 15:92120464:GTG:G | acceptor_gain | 1.0000 |
| 15:92120464:GTGA:G | acceptor_gain | 1.0000 |
| 15:92120464:GTGAT:G | acceptor_gain | 1.0000 |
| 15:92120574:G:GT | donor_gain | 1.0000 |
AlphaMissense
4624 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:91916023:T:C | F71L | 1.000 |
| 15:91916025:C:A | F71L | 1.000 |
| 15:91916025:C:G | F71L | 1.000 |
| 15:91916062:A:C | S84R | 1.000 |
| 15:91916064:C:A | S84R | 1.000 |
| 15:91916064:C:G | S84R | 1.000 |
| 15:91916074:G:A | G88R | 1.000 |
| 15:91916074:G:C | G88R | 1.000 |
| 15:91916075:G:A | G88E | 1.000 |
| 15:91916141:G:A | G110D | 1.000 |
| 15:91916147:G:A | G112D | 1.000 |
| 15:91916374:G:C | G188R | 1.000 |
| 15:91916381:G:A | G190D | 1.000 |
| 15:91916404:G:C | G198R | 1.000 |
| 15:91916413:T:G | Y201D | 1.000 |
| 15:92094908:G:A | G225E | 1.000 |
| 15:92094919:G:T | G229W | 1.000 |
| 15:92094920:G:A | G229E | 1.000 |
| 15:92104313:G:C | W260C | 1.000 |
| 15:92104313:G:T | W260C | 1.000 |
| 15:92104318:G:A | G262E | 1.000 |
| 15:92104323:T:A | W264R | 1.000 |
| 15:92104323:T:C | W264R | 1.000 |
| 15:92104326:T:A | W265R | 1.000 |
| 15:92104326:T:C | W265R | 1.000 |
| 15:92120566:T:C | F371L | 1.000 |
| 15:92120568:T:A | F371L | 1.000 |
| 15:92120568:T:G | F371L | 1.000 |
| 15:92120593:T:C | F380L | 1.000 |
| 15:92120595:T:A | F380L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006392 (15:91870866 T>C), RS1000033908 (15:92042027 G>A), RS1000036727 (15:92057877 T>C), RS1000049856 (15:92169330 A>G), RS1000057911 (15:91931844 G>A,C), RS1000058031 (15:92028137 C>G), RS1000062393 (15:92063244 A>C), RS1000066020 (15:92070558 G>A), RS1000073082 (15:91911130 T>C), RS1000085068 (15:91879600 G>A), RS1000086887 (15:91917139 G>A), RS1000088237 (15:91942992 C>A), RS1000094553 (15:91859864 A>G), RS1000102326 (15:92134923 G>A), RS1000109294 (15:92052990 G>A,C)
Disease associations
OMIM: gene MIM:612435 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000201_2 | Response to iloperidone treatment (QT prolongation) | 2.000000e-06 |
| GCST000279_1 | Inattentive symptoms | 3.000000e-06 |
| GCST001320_30 | Acute lymphoblastic leukemia (childhood) | 1.000000e-06 |
| GCST001762_739 | Obesity-related traits | 8.000000e-06 |
| GCST002058_7 | DNA methylation (variation) | 5.000000e-06 |
| GCST002396_27 | Smoking initiation | 9.000000e-08 |
| GCST002592_27 | Neuritic plaque | 5.000000e-06 |
| GCST002593_46 | Dementia and core Alzheimer’s disease neuropathologic changes | 7.000000e-06 |
| GCST003264_1075 | Post bronchodilator FEV1/FVC ratio | 4.000000e-06 |
| GCST003264_951 | Post bronchodilator FEV1/FVC ratio | 5.000000e-06 |
| GCST003631_4 | Gastroesophageal reflux disease | 2.000000e-07 |
| GCST004030_27 | Primary sclerosing cholangitis | 2.000000e-06 |
| GCST006630_70 | Diastolic blood pressure | 2.000000e-11 |
| GCST008837_2 | Estimated glomerular filtration rate reduction (30%) | 3.000000e-06 |
| GCST008837_3 | Estimated glomerular filtration rate reduction (30%) | 2.000000e-06 |
| GCST008837_4 | Estimated glomerular filtration rate reduction (30%) | 2.000000e-06 |
| GCST010002_104 | Refractive error | 6.000000e-12 |
| GCST010988_26 | Adult body size | 3.000000e-09 |
| GCST012366_1 | Orofacial cleft x maternal periconceptional alcohol use interaction (1df) | 4.000000e-07 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004810 | interleukin-6 measurement |
| EFO:0022599 | DNA methylation |
| EFO:0005670 | smoking initiation |
| EFO:0006798 | neuritic plaque measurement |
| EFO:0006801 | Alzheimer’s disease neuropathologic change |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0006336 | diastolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2073685 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
3 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1517618 | SLCO3A1 | 0.00 | 0 | ||
| rs4294800 | SLCO3A1 | 0.00 | 0 | ||
| rs8027174 | SLCO3A1 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLCO family of organic anion transporting polypeptides
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 5 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 4 |
| Zoledronic Acid | decreases expression, increases expression | 2 |
| Aerosols | decreases expression | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| terbufos | decreases methylation | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| estrone sulfate | increases reaction, increases uptake | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| simvastatin acid | increases uptake, affects reaction, decreases expression, increases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 3-iodothyronamine | affects uptake | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | decreases expression, decreases reaction | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
ChEMBL screening assays
9 unique, capped per target: 9 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2075191 | Functional | TP_TRANSPORTER: uptake in Xenopus laevis oocytes | Localization of organic anion transporting polypeptides in the rat and human ciliary body epithelium. — Exp Eye Res |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4WH | LS180-SLCO3A1-KO-c7 | Cancer cell line | Female |
| CVCL_D4WI | LS180-SLCO3A1-KO-c9 | Cancer cell line | Female |
| CVCL_TP37 | HAP1 SLCO3A1 (-) 1 | Cancer cell line | Male |
| CVCL_XT44 | HAP1 SLCO3A1 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Targeted by drugs: Estrone Sulfuric Acid
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acute lymphoblastic leukemia, dementia, gastroesophageal reflux disease, sclerosing cholangitis