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This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]
SLCO1B1 (Solute Carrier Organic Anion Transporter Family Member 1B1) is a Protein Coding gene. Diseases associated with SLCO1B1 include Hyperbilirubinemia, Rotor Type and Gilbert Syndrome. Among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Transport of vitamins, nucleosides, and related molecules. Gene Ontology (GO) annotations related to this gene include transporter activity and sodium-independent organic anion transmembrane transporter activity. An important paralog of this gene is SLCO1B3.
ATP-binding cassette (ABC) transporters form one of the largest groups of paralogous protein families that have a wide diversity of functions and substrates. Specificity has been shown for small and large molecules, highly charged molecules and highly hydrophobic systems.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12J021131 | Promoter | 0.6 | EPDnew | 600.7 | 0.0 | -19 | 0.1 | REST JUND TAF1 SP1 | NONHSAG010650.2 SLCO1B1 piR-46002-109 ENSG00000257062 | |
GH12J021275 | Enhancer | 0.2 | FANTOM5 | 8.3 | +144.9 | 144854 | 0.1 | piR-51855-007 piR-60926 GYS2 SLCO1B1 SLCO1A2 SLCO1B3 KCNJ8 piR-40110-126 IAPP lnc-SLCO1A2-1 | ||
GH12J020906 | Enhancer | 0.2 | FANTOM5 | 5.7 | -224.7 | -224734 | 0.3 | SLCO1B1 SLCO1B3 SLCO1A2 lnc-SLCO1A2-5 piR-38005-006 SLCO1B7 SLCO1B3-SLCO1B7 | ||
GH12J021009 | Enhancer | 0.2 | FANTOM5 | 1.7 | -121.7 | -121712 | 0 | piR-31534-123 SLCO1B3 SLCO1B1 piR-31534-124 ENSG00000257062 SLCO1B7 SLCO1B3-SLCO1B7 | ||
GH12J021155 | Enhancer | 0.5 | Ensembl | 0.4 | +24.6 | 24607 | 0.4 | CREB1 YY1 JUND HNF4A REST HNF4G SP1 | piR-32725 NONHSAG010650.2 SLCO1B1 piR-39858-113 ENSG00000257062 IAPP |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0015125 | bile acid transmembrane transporter activity | TAS | -- |
GO:0015347 | sodium-independent organic anion transmembrane transporter activity | TAS,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS,IBA | 21873635 |
GO:0016020 | membrane | TAS | 10358072 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016323 | basolateral plasma membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Statin Pathway - Generalized, Pharmacokinetics | ||
2 | Carvedilol Pathway, Pharmacokinetics | ||
3 | Irinotecan Pathway, Pharmacokinetics | ||
4 | Blood-Brain Barrier: Anatomy | ||
5 | Synthesis of bile acids and bile salts |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0015711 | organic anion transport | TAS | 10358072 |
GO:0015721 | bile acid and bile salt transport | TAS | -- |
GO:0043252 | sodium-independent organic anion transport | TAS | -- |
GO:0055085 | transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pravastatin | Approved | Pharma | Inhibitor, Competitive, Transporter, substrate, inhibitor | 167 | ||
Rifampicin | Approved | Pharma | Agonist, Inhibitor, Inhibition, Transporter, inhibitor, binder | Pregnane X receptor agonist; antibiotic | 456 | |
Gemfibrozil | Approved | Pharma | Agonist, Inhibitor, Inhibition, Target, inhibitor, activator | 30 | ||
Irinotecan | Approved, Investigational | Pharma | Transporter, inhibitor | Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors | 1414 | |
Cyclosporin A | Approved, Investigational, Vet_approved | Pharma | Antagonist, Inhibitor, Inhibition, Transporter, substrate, inhibitor | Immunosuppressive agent, Calcineurin inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(3a,5b,7a)-23-Carboxy-7-hydroxy-24-norcholan-3-yl-b-D-Glucopyranosiduronic acid |
|
58814-71-4 | ||||
1,3,12-Trihydroxycholan-24-oic acid |
|
63266-91-1 | ||||
1,3,7,12-Tetrahydroxycholan-24-oic acid |
|
63266-89-7 | ||||
12a-Hydroxy-3-oxocholadienic acid |
|
13535-96-1 | ||||
12b-Hydroxy-5b-cholanoic acid |
|
15173-23-6 |
Compound | Action | Cas Number |
---|---|---|
Fumitremorgin C | Inhibitor of BCRP-mediated multidrug resistance | 118974-02-0 |
Ko 143 | Potent and selective BCRP inhibitor | 461054-93-3 |
Pyrimethamine | Potent inhibitor of multidrug and toxin extrusion (MATE) transporters; also DHFR and STAT3 inhibitor | 58-14-0 |
Compound | Action | Cas Number |
---|---|---|
Probenecid | 57-66-9 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLCO1B1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | OATPC 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Slco1b2 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | SLCO1B1 30 |
|
||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slco1b3 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
740141 | Likely Benign: not provided | 21,224,807(+) | G/T | SYNONYMOUS_VARIANT | |
811089 | Conflicting Interpretations: Rotor syndrome; not specified | 21,178,957(+) | A/G | MISSENSE_VARIANT | |
812027 | Uncertain Significance: not specified | 21,238,977(+) | A/G | SPLICE_ACCEPTOR_VARIANT | |
880626 | Uncertain Significance: Rotor syndrome | 21,178,988(+) | A/C | MISSENSE_VARIANT | |
880627 | Uncertain Significance: Rotor syndrome | 21,196,976(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1403n100 | CNV | loss | 25217958 |
dgv1404n100 | CNV | loss | 25217958 |
dgv1405n100 | CNV | loss | 25217958 |
dgv2401n54 | CNV | loss | 21841781 |
dgv2404n54 | CNV | loss | 21841781 |
dgv2405n54 | CNV | loss | 21841781 |
dgv2406n54 | CNV | loss | 21841781 |
esv3580181 | CNV | loss | 25503493 |
esv3580182 | CNV | loss | 25503493 |
esv3628799 | CNV | loss | 21293372 |
nsv1044200 | CNV | loss | 25217958 |
nsv1045025 | CNV | gain | 25217958 |
nsv1048033 | CNV | loss | 25217958 |
nsv1054997 | CNV | gain | 25217958 |
nsv1115425 | CNV | duplication | 24896259 |
nsv1152912 | CNV | duplication | 26484159 |
nsv469159 | CNV | loss | 19166990 |
nsv515735 | CNV | gain+loss | 19592680 |
nsv557718 | CNV | loss | 21841781 |
nsv557723 | CNV | loss | 21841781 |
nsv557724 | CNV | gain | 21841781 |
nsv557725 | CNV | gain | 21841781 |
nsv557728 | CNV | loss | 21841781 |
nsv557729 | CNV | loss | 21841781 |
nsv557732 | CNV | loss | 21841781 |
nsv557733 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperbilirubinemia, rotor type |
|
|
gilbert syndrome |
|
|
neonatal jaundice |
|
|
bilirubin metabolic disorder |
|
|
cholestasis |
|