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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 endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]
SLCO1B3 (Solute Carrier Organic Anion Transporter Family Member 1B3) is a Protein Coding gene. Diseases associated with SLCO1B3 include Hyperbilirubinemia, Rotor Type and Progressive Familial Intrahepatic Cholestasis. Among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and organic anion transmembrane transporter activity. An important paralog of this gene is SLCO1B3-SLCO1B7.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH12J020822 | Promoter/Enhancer | 1 | EPDnew FANTOM5 ENCODE | 272.4 | +11.8 | 11771 | 0.4 | POLR2A SIN3A | SLCO1B3 HSALNG0089740 piR-36770-023 SLCO1B3-SLCO1B7 NONHSAG010647.2 ENSG00000256157 SLCO1B7 | |
GH12J020810 | Promoter | 0.4 | EPDnew | 250.7 | 0.0 | -16 | 0.1 | TAF1 | NONHSAG010647.2 SLCO1B3 HSALNG0089740 piR-39098-050 SLCO1C1 | |
GH12J020807 | Promoter | 0.3 | EPDnew | 250.7 | -3.0 | -2965 | 0.1 | SLCO1B3 NONHSAG010647.2 HSALNG0089740 piR-39098-050 SLCO1C1 | ||
GH12J020808 | Promoter | 0.3 | EPDnew | 250.7 | -3.2 | -3201 | 0.1 | SLCO1B3 NONHSAG010647.2 HSALNG0089740 piR-39098-050 SLCO1C1 | ||
GH12J020875 | Promoter | 0.3 | EPDnew | 250.2 | +64.7 | 64711 | 0.1 | SLCO1B3 piR-38005-006 SLCO1B3-SLCO1B7 lnc-SLCO1A2-5 NONHSAG010647.2 SLCO1B7 HSALNG0089747 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0008514 | organic anion transmembrane transporter activity | TAS | 10779507 |
GO:0015125 | bile acid transmembrane transporter activity | TAS | -- |
GO:0015347 | sodium-independent organic anion transmembrane transporter activity | IBA | 21873635 |
GO:0022857 | transmembrane transporter activity | IEA | -- |
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 | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016323 | basolateral plasma membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0015711 | organic anion transport | TAS | 10779507 |
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 |
---|---|---|---|---|---|---|
Rifampicin | Approved | Pharma | Inhibitor, Inhibition, Transporter, substrate, binder | Pregnane X receptor agonist; antibiotic | 490 | |
Cyclosporin A | Approved, Investigational, Vet_approved | Pharma | Inhibitor, Inhibition, Transporter | Immunosuppressive agent, Calcineurin inhibitor | 0 | |
Gemfibrozil | Approved | Pharma | Inhibitor, Inhibition, Target, activator | 31 | ||
Docetaxel | Approved, Investigational | Pharma | Transporter, substrate | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2403 | |
Mycophenolate mofetil | Approved, Investigational | Pharma | Transporter, substrate | IMPDH 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 |
---|---|---|
Probenecid | 57-66-9 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | SLCO1B3 30 |
|
||
OATPC 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | SLCO1B3 30 |
|
||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Slco1b2 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Slco1b2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
769234 | Benign: not provided | 20,901,435(+) |
G/. NM_019844.4(SLCO1B3):c.1833= (p.Gly611=) |
NO_SEQUENCE_ALTERATION | |
880547 | Uncertain Significance: Rotor syndrome | 20,916,888(+) |
C/T NM_019844.4(SLCO1B3):c.*641C>T |
THREE_PRIME_UTR_VARIANT,INTRON | |
881392 | Uncertain Significance: Rotor syndrome | 20,861,116(+) |
A/G NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) |
SYNONYMOUS | |
881393 | Uncertain Significance: Rotor syndrome | 20,862,471(+) |
C/T NM_019844.4(SLCO1B3):c.541C>T (p.Arg181Cys) |
MISSENSE | |
881394 | Uncertain Significance: Rotor syndrome | 20,862,487(+) |
C/A NM_019844.4(SLCO1B3):c.557C>A (p.Thr186Asn) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperbilirubinemia, rotor type |
|
|
progressive familial intrahepatic cholestasis |
|
|
intrahepatic cholestasis of pregnancy |
|
|
bronchiectasis 3 |
|
|
hepatocellular adenoma |
|
|