SLC51A
gene geneOn this page
Also known as OSTalphaSLC51A1
Summary
SLC51A (solute carrier family 51 member A, HGNC:29955) is a protein-coding gene on chromosome 3q29, encoding Organic solute transporter subunit alpha (Q86UW1). Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood.
Predicted to enable protein heterodimerization activity; protein homodimerization activity; and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis.
Source: NCBI Gene 200931 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cholestasis, progressive familial intrahepatic, 6 (Limited, GenCC)
- GWAS associations: 8
- Clinical variants (ClinVar): 88 total — 1 pathogenic
- Phenotypes (HPO): 12
- Druggable target: yes
- MANE Select transcript:
NM_152672
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29955 |
| Approved symbol | SLC51A |
| Name | solute carrier family 51 member A |
| Location | 3q29 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OSTalpha, SLC51A1 |
| Ensembl gene | ENSG00000163959 |
| Ensembl biotype | protein_coding |
| OMIM | 612084 |
| Entrez | 200931 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 7 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000296327, ENST00000415111, ENST00000416660, ENST00000428985, ENST00000442203, ENST00000471430, ENST00000472653, ENST00000475271, ENST00000475672, ENST00000476129, ENST00000479732, ENST00000484407, ENST00000492794, ENST00000496737, ENST00000900647, ENST00000900648, ENST00000900649
RefSeq mRNA: 1 — MANE Select: NM_152672
NM_152672
CCDS: CCDS3314
Canonical transcript exons
ENST00000296327 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001333743 | 196227664 | 196227737 |
| ENSE00001333744 | 196226965 | 196227119 |
| ENSE00001731902 | 196216534 | 196216750 |
| ENSE00003489073 | 196232419 | 196232524 |
| ENSE00003497730 | 196228809 | 196228920 |
| ENSE00003511981 | 196233063 | 196233427 |
| ENSE00003513914 | 196217842 | 196217936 |
| ENSE00003523719 | 196229915 | 196230061 |
| ENSE00003542186 | 196228115 | 196228273 |
Expression profiles
Bgee: expression breadth ubiquitous, 175 present calls, max score 99.40.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5388 / max 97.2266, expressed in 113 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 40717 | 0.2483 | 57 |
| 40716 | 0.1664 | 46 |
| 40715 | 0.0379 | 16 |
| 40720 | 0.0328 | 10 |
| 40719 | 0.0257 | 8 |
| 40718 | 0.0196 | 12 |
| 40721 | 0.0080 | 3 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 99.40 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.73 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.65 | gold quality |
| liver | UBERON:0002107 | 94.85 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 94.80 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.19 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.87 | gold quality |
| small intestine | UBERON:0002108 | 91.81 | gold quality |
| duodenum | UBERON:0002114 | 91.71 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 90.41 | gold quality |
| right testis | UBERON:0004534 | 90.19 | gold quality |
| sperm | CL:0000019 | 89.94 | gold quality |
| transverse colon | UBERON:0001157 | 89.89 | gold quality |
| left testis | UBERON:0004533 | 89.26 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.03 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.75 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.40 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.26 | gold quality |
| testis | UBERON:0000473 | 87.17 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.04 | gold quality |
| adrenal gland | UBERON:0002369 | 86.75 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 85.40 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.11 | gold quality |
| bone marrow cell | CL:0002092 | 83.47 | gold quality |
| intestine | UBERON:0000160 | 83.47 | gold quality |
| right ovary | UBERON:0002118 | 82.38 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.05 | gold quality |
| granulocyte | CL:0000094 | 82.03 | gold quality |
| gastrocnemius | UBERON:0001388 | 82.03 | gold quality |
| muscle of leg | UBERON:0001383 | 81.91 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.12 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR0B2, NR1H3, NR1H4, NR5A2
miRNA regulators (miRDB)
18 targeting SLC51A, 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-452-3P | 99.01 | 66.25 | 1241 |
| HSA-MIR-10395-3P | 98.10 | 66.70 | 1726 |
| HSA-MIR-630 | 97.50 | 66.38 | 921 |
| HSA-MIR-643 | 97.35 | 67.91 | 805 |
| HSA-MIR-1202 | 97.19 | 66.43 | 827 |
| HSA-MIR-3972 | 97.19 | 66.46 | 808 |
| HSA-MIR-3126-5P | 96.87 | 65.83 | 912 |
| HSA-MIR-6875-5P | 96.87 | 65.49 | 958 |
| HSA-MIR-3194-5P | 96.80 | 64.90 | 1027 |
Literature-anchored findings (GeneRIF, showing 13)
- OSTalpha has roles in biological transport and is widely expressed in human tissues (PMID:12719432)
- overexpression of human OSTalpha and OSTbeta facilitated the uptake of conjugated chenodeoxycholate and the activation of FXR target genes (PMID:16251721)
- OSTalpha/OSTbeta expression is induced by bile acids through ligand-dependent transactivation of both OST genes by the nuclear bile acid receptor/farnesoid X receptor (FXR). (PMID:16269519)
- the selective localization of OSTalpha and OSTbeta to the basolateral plasma membrane of epithelial cells responsible for bile acid and sterol reabsorption. (PMID:16317684)
- These results indicate that expression of Ostalpha and Ostbeta are highly regulated in response to cholestasis and that this response is dependent on the FXR bile acid receptor. (PMID:16423920)
- Demonstrate association of OST-alpha and OST-beta to determine trafficking to plasma membrane and activity. (PMID:17332473)
- The mRNA expression of OSTalpha-OSTbeta was significantly reduced (OSTalpha: 3.3-fold, P = 0.006; OSTbeta: 2.6-fold, P = 0.03) in normal-weight but not overweight gallstone carriers (PMID:18469300)
- human OSTalpha is a glycoprotein that requires interaction with OSTbeta to reach the plasma membrane. However, glycosylation of OSTalpha is not necessary for interaction with the beta subunit or for membrane localization . (PMID:18847488)
- The present report summarizes the evidence for a pleiotropic role of Ostalpha-Ostbeta in different tissues. (PMID:21691099)
- Ostbeta is required for both proper trafficking of Ostalpha and formation of the functional transport unit, and identify specific residues of Ostbeta critical for these processes. (PMID:22535958)
- Hepatic OSTalpha-OSTbeta expression is induced by hypoxia. (PMID:24703425)
- SLC51A expression is significantly upregulated in human masticatory mucosa during wound healing (PMID:28005267)
- A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos. (PMID:33031748)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc51a | ENSMUSG00000035699 |
| rattus_norvegicus | Slc51a | ENSRNOG00000001765 |
| drosophila_melanogaster | Tmep | FBGN0035236 |
Paralogs (3): TMEM184C (ENSG00000164168), TMEM184A (ENSG00000164855), TMEM184B (ENSG00000198792)
Protein
Protein identifiers
Organic solute transporter subunit alpha — Q86UW1 (reviewed: Q86UW1)
Alternative names: Solute carrier family 51 subunit alpha
All UniProt accessions (5): C9J2I5, Q86UW1, F8WBV2, H7C351, H7C3V2
UniProt curated annotations — full annotation on UniProt →
Function. Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Efficiently transports the major species of bile acids (taurocholate). Taurine conjugates are transported more efficiently across the basolateral membrane than glycine-conjugated bile acids. Can also transport steroids such as estrone 3-sulfate and dehydroepiandrosterone 3-sulfate, therefore playing a role in the enterohepatic circulation of sterols. Able to transport eicosanoids such as prostaglandin E2.
Subunit / interactions. Interacts with SLC51B. The Ost-alpha/Ost-beta complex is a heterodimer composed of alpha (SLC51A) and beta (SLC51B) subunit.
Subcellular location. Cell membrane. Endoplasmic reticulum membrane.
Tissue specificity. Widely expressed with a high expression in ileum. Expressed in testis, colon, liver, small intestine, kidney, ovary and adrenal gland; and at low levels in heart, lung, brain, pituitary, thyroid gland, uterus, prostate, mammary gland and fat.
Disease relevance. Cholestasis, progressive familial intrahepatic, 6 (PFIC6) [MIM:619484] An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have elevated liver transaminases and congenital diarrhea. The disease is caused by variants affecting the gene represented in this entry.
Induction. Positively regulated via NR1H4/FXR in adrenal gland, kidney and intestine.
Similarity. Belongs to the OST-alpha family.
RefSeq proteins (1): NP_689885* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005178 | Ostalpha/TMEM184C | Family |
Pfam: PF03619
Catalyzed reactions (Rhea), 11 shown:
- prostaglandin E2(out) = prostaglandin E2(in) (RHEA:50984)
- taurocholate(out) = taurocholate(in) (RHEA:71703)
- estrone 3-sulfate(out) = estrone 3-sulfate(in) (RHEA:71835)
- dehydroepiandrosterone 3-sulfate(out) = dehydroepiandrosterone 3-sulfate(in) (RHEA:71839)
- tauroursodeoxycholate(out) = tauroursodeoxycholate(in) (RHEA:71843)
- glycoursodeoxycholate(out) = glycoursodeoxycholate(in) (RHEA:71847)
- glycocholate(out) = glycocholate(in) (RHEA:71851)
- taurochenodeoxycholate(out) = taurochenodeoxycholate(in) (RHEA:71855)
- glycochenodeoxycholate(out) = glycochenodeoxycholate(in) (RHEA:71859)
- taurodeoxycholate(out) = taurodeoxycholate(in) (RHEA:71863)
- glycodeoxycholate(out) = glycodeoxycholate(in) (RHEA:71867)
UniProt features (19 total): topological domain 8, transmembrane region 7, sequence variant 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9UO2 | ELECTRON MICROSCOPY | 2.6 |
| 9LJG | ELECTRON MICROSCOPY | 2.64 |
| 9LJH | ELECTRON MICROSCOPY | 2.73 |
| 9UO1 | ELECTRON MICROSCOPY | 2.9 |
| 9UNV | ELECTRON MICROSCOPY | 3.12 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UW1-F1 | 82.38 | 0.35 |
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): 330
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-159418 | Recycling of bile acids and salts |
MSigDB gene sets: 107 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_ACID_SECRETION, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SECRETION, GOBP_BILE_ACID_AND_BILE_SALT_TRANSPORT, SANSOM_APC_TARGETS_DN, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, SABATES_COLORECTAL_ADENOMA_DN, VECCHI_GASTRIC_CANCER_EARLY_DN, ACEVEDO_LIVER_CANCER_UP, GOBP_LIPID_LOCALIZATION, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK
GO Biological Process (4): bile acid and bile salt transport (GO:0015721), bile acid secretion (GO:0032782), lipid transport (GO:0006869), transmembrane transport (GO:0055085)
GO Molecular Function (5): bile acid transmembrane transporter activity (GO:0015125), transmembrane transporter activity (GO:0022857), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)
GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), protein-containing complex (GO:0032991), endoplasmic reticulum (GO:0005783)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Bile acid and bile salt metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| monocarboxylic acid transport | 2 |
| transport | 2 |
| protein dimerization activity | 2 |
| lipid transport | 1 |
| organic hydroxy compound transport | 1 |
| acid secretion | 1 |
| lipid localization | 1 |
| cellular process | 1 |
| bile acid and bile salt transport | 1 |
| carboxylic acid transmembrane transporter activity | 1 |
| lipid transmembrane transporter activity | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| identical protein binding | 1 |
| binding | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| basal plasma membrane | 1 |
| plasma membrane region | 1 |
| cellular_component | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
899 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC51A | SLC51B | Q86UW2 | 999 |
| SLC51A | ABCC3 | O15438 | 907 |
| SLC51A | CYP7A1 | P22680 | 902 |
| SLC51A | SLC10A2 | Q12908 | 881 |
| SLC51A | FGF19 | O95750 | 873 |
| SLC51A | FABP6 | P51161 | 810 |
| SLC51A | ABCB11 | O95342 | 808 |
| SLC51A | SLC10A1 | Q14973 | 797 |
| SLC51A | NR1H4 | Q96RI1 | 784 |
| SLC51A | NR0B2 | Q15466 | 735 |
| SLC51A | CYP8B1 | Q9UNU6 | 716 |
| SLC51A | ABCB4 | P21439 | 649 |
| SLC51A | GPBAR1 | Q8TDU6 | 623 |
| SLC51A | ABCC2 | Q92887 | 616 |
| SLC51A | SLCO1A2 | P46721 | 610 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATXN1 | SLC51A | psi-mi:“MI:0915”(physical association) | 0.670 |
| SLC51A | DNAJC30 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC51A | TMEM63A | psi-mi:“MI:0914”(association) | 0.530 |
| SLC51A | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| DNAJC30 | SLC51A | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC51A | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (52): ANO6 (Affinity Capture-MS), TMEM63A (Affinity Capture-MS), UBB (Affinity Capture-MS), FAM8A1 (Affinity Capture-MS), KIAA1715 (Affinity Capture-MS), DNAJC30 (Two-hybrid), TMEM63A (Affinity Capture-MS), ANO6 (Affinity Capture-MS), UBB (Affinity Capture-MS), ATP1B1 (Affinity Capture-MS), ATR (Affinity Capture-MS), KIAA1524 (Affinity Capture-MS), CNIH4 (Affinity Capture-MS), COG3 (Affinity Capture-MS), COG4 (Affinity Capture-MS)
ESM2 similar proteins: A2VE13, A4K2N5, A4K2W1, B8BPI2, E1BY51, O09117, O09198, O35682, O62646, O88662, O89104, P21145, Q04941, Q10EJ2, Q16563, Q1RMQ3, Q28296, Q3URJ8, Q3ZBY0, Q5R6H1, Q5RAI2, Q5VXT5, Q64349, Q6DHB5, Q6GPN9, Q6P0C6, Q6P742, Q6VBQ5, Q6Y1E2, Q78S06, Q86TG1, Q86UW1, Q8BI08, Q8CJ61, Q8IZ96, Q8IZR5, Q8N2H4, Q8N8D7, Q91WN2, Q95MN6
Diamond homologs: A9ULC7, Q3T124, Q66I08, Q86UW1, Q8R000, Q90YM5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
88 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 32 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1199252 | NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter) | Pathogenic |
SpliceAI
2750 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:196216746:CCCAG:C | donor_gain | 1.0000 |
| 3:196216749:AGG:A | donor_loss | 1.0000 |
| 3:196216751:G:GG | donor_gain | 1.0000 |
| 3:196216751:GTAA:G | donor_loss | 1.0000 |
| 3:196226963:A:AG | acceptor_gain | 1.0000 |
| 3:196226963:AGCC:A | acceptor_loss | 1.0000 |
| 3:196226964:G:GG | acceptor_gain | 1.0000 |
| 3:196226964:GCCC:G | acceptor_gain | 1.0000 |
| 3:196226964:GCCCT:G | acceptor_gain | 1.0000 |
| 3:196227101:G:GT | donor_gain | 1.0000 |
| 3:196228918:GAC:G | donor_gain | 1.0000 |
| 3:196228921:G:GG | donor_gain | 1.0000 |
| 3:196228928:GGGA:G | donor_gain | 1.0000 |
| 3:196228929:GGA:G | donor_gain | 1.0000 |
| 3:196228929:GGAG:G | donor_gain | 1.0000 |
| 3:196228930:GA:G | donor_gain | 1.0000 |
| 3:196228930:GAG:G | donor_gain | 1.0000 |
| 3:196228932:G:GG | donor_gain | 1.0000 |
| 3:196228938:G:T | donor_gain | 1.0000 |
| 3:196239540:AACAT:A | donor_loss | 1.0000 |
| 3:196239541:ACAT:A | donor_loss | 1.0000 |
| 3:196239542:CATA:C | donor_loss | 1.0000 |
| 3:196239543:ATAC:A | donor_loss | 1.0000 |
| 3:196239544:TACC:T | donor_loss | 1.0000 |
| 3:196239545:A:AC | donor_gain | 1.0000 |
| 3:196239545:A:T | donor_loss | 1.0000 |
| 3:196239546:C:CC | donor_gain | 1.0000 |
| 3:196239557:T:TA | donor_gain | 1.0000 |
| 3:196239557:TCCGG:T | donor_gain | 1.0000 |
| 3:196239583:T:TA | donor_gain | 1.0000 |
AlphaMissense
2173 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:196229981:T:A | W234R | 0.969 |
| 3:196229981:T:C | W234R | 0.969 |
| 3:196227694:T:A | W107R | 0.968 |
| 3:196227694:T:C | W107R | 0.968 |
| 3:196233084:T:A | I303K | 0.950 |
| 3:196232488:T:C | C284R | 0.942 |
| 3:196228230:T:C | C160R | 0.941 |
| 3:196227105:A:C | S92R | 0.940 |
| 3:196227107:C:A | S92R | 0.940 |
| 3:196227107:C:G | S92R | 0.940 |
| 3:196227689:G:A | G105D | 0.937 |
| 3:196229957:G:C | G226R | 0.936 |
| 3:196229958:G:A | G226D | 0.936 |
| 3:196227679:T:C | C102R | 0.935 |
| 3:196232445:G:C | Q269H | 0.934 |
| 3:196232445:G:T | Q269H | 0.934 |
| 3:196228164:T:C | F138L | 0.932 |
| 3:196228166:T:A | F138L | 0.932 |
| 3:196228166:T:G | F138L | 0.932 |
| 3:196227045:G:C | A72P | 0.931 |
| 3:196227083:G:C | K84N | 0.931 |
| 3:196227083:G:T | K84N | 0.931 |
| 3:196229976:C:A | A232D | 0.931 |
| 3:196227688:G:C | G105R | 0.928 |
| 3:196232488:T:A | C284S | 0.927 |
| 3:196232489:G:C | C284S | 0.927 |
| 3:196229939:T:A | W220R | 0.926 |
| 3:196229939:T:C | W220R | 0.926 |
| 3:196232489:G:A | C284Y | 0.926 |
| 3:196232490:T:G | C284W | 0.925 |
dbSNP variants (sampled 300 via entrez): RS1000010696 (3:196228047 C>T), RS1000047318 (3:196219465 G>A), RS1000307330 (3:196233508 C>T), RS1000755994 (3:196216863 A>G), RS1000915693 (3:196231916 A>C,G), RS1001240264 (3:196232344 C>T), RS1001444234 (3:196217710 G>A), RS1001860096 (3:196227415 C>T), RS1001971259 (3:196221918 C>A,G), RS1001977482 (3:196223253 T>G), RS1002043954 (3:196223276 A>G), RS1002046423 (3:196233497 G>A), RS1002484448 (3:196217686 AAAGGAAGG>A,AAAGG,AAAGGAAGGAAGG), RS1002503554 (3:196233861 C>G), RS1002547691 (3:196228444 AG>A)
Disease associations
OMIM: gene MIM:612084 | disease phenotypes: MIM:619484
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cholestasis, progressive familial intrahepatic, 6 | Limited | Unknown |
Mondo (1): cholestasis, progressive familial intrahepatic, 6 (MONDO:0030360)
Orphanet (0):
HPO phenotypes
12 total (12 of 12 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000978 | Bruising susceptibility |
| HP:0001405 | Periportal fibrosis |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0001508 | Failure to thrive |
| HP:0002028 | Chronic diarrhea |
| HP:0002908 | Conjugated hyperbilirubinemia |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0003593 | Infantile onset |
| HP:0011888 | Bleeding requiring red cell transfusion |
| HP:0030948 | Elevated gamma-glutamyltransferase level |
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012020_600 | Serum metabolite levels | 1.000000e-21 |
| GCST012020_601 | Serum metabolite levels | 6.000000e-11 |
| GCST012020_602 | Serum metabolite levels | 6.000000e-11 |
| GCST012020_603 | Serum metabolite levels | 2.000000e-20 |
| GCST012021_1 | Serum metabolite levels | 2.000000e-20 |
| GCST012021_48 | Serum metabolite levels | 1.000000e-21 |
| GCST012021_49 | Serum metabolite levels | 6.000000e-11 |
| GCST012021_50 | Serum metabolite levels | 6.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2073724 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC51 family of steroid-derived molecule transporters
CTD chemical–gene interactions
76 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Chenodeoxycholic Acid | increases expression, affects binding, decreases reaction, decreases expression, increases reaction (+2 more) | 10 |
| Deoxycholic Acid | affects cotreatment, increases expression | 4 |
| bisphenol A | decreases methylation, increases expression, affects expression, affects cotreatment, increases methylation | 3 |
| GW 4064 | decreases reaction, increases expression | 3 |
| Glycochenodeoxycholic Acid | affects cotreatment, increases expression, affects binding, decreases reaction, increases uptake | 3 |
| Glycocholic Acid | affects binding, decreases reaction, increases uptake, affects cotreatment, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Calcitriol | affects cotreatment, decreases expression | 2 |
| Glycodeoxycholic Acid | affects cotreatment, increases expression | 2 |
| Lithocholic Acid | increases expression | 2 |
| Nickel | increases expression | 2 |
| Triclosan | affects cotreatment, increases expression, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Aflatoxin B1 | decreases expression, decreases methylation | 2 |
| fluxapyroxad | decreases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, increases expression | 1 |
| chlortoluron | decreases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| tri-o-cresyl phosphate | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| epigallocatechin gallate | decreases reaction, increases expression | 1 |
| propiconazole | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 functional
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2078563 | Functional | TP_TRANSPORTER: cell accumulation in OST-expressing oocytes | Functional complementation between a novel mammalian polygenic transport complex and an evolutionarily ancient organic solute transporter, OSTalpha-OSTbeta. — J Biol Chem |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4TZ | HuH7-SLC51A-KO-c1 | Cancer cell line | Male |
| CVCL_D4U0 | HuH7-SLC51A-KO-c2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: cholestasis, progressive familial intrahepatic, 6
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cholestasis, progressive familial intrahepatic, 6