SLCO1B3 - solute carrier organic anion transporter family member 1B3 Gene
Also Known as LST3; HBLRR; LST-2; OATP8; OATP-8; OATP1B3; SLC21A8; LST-3TM13
Species: Homo sapiens
About SLCO1B3
This gene has 5 transcripts (splice variants), 139 orthologues, 10 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 30.2).
Summary
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 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001349920.2 | NP_001336849.1 | solute carrier organic anion transporter family member 1B3 isoform 2 |
| NM_019844.4 | NP_062818.1 | solute carrier organic anion transporter family member 1B3 isoform 1 |
SLCO1B3 Protein Structure
OATP: Organic Anion Transporter Polypeptide (OATP) family (28 - 621)
Kazal_2: Kazal-type serine protease inhibitor domain (465 - 506)
- 0
- 200
- 400
- 600
- 702 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
solute carrier organic anion transporter family member 1B3 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hyperbilirubinemia, Rotor Type |
|
|
| Intrahepatic Cholestasis |
|
|
| Dubin-Johnson Syndrome |
|
|
| Bronchiectasis 3 |
|
|
| Liver Lipoma |
|
|
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Gilbert Syndrome |
|
|
| Immunodeficiency 60 |
|
|
| Progressive Familial Intrahepatic Cholestasis |
|
|
| Intrahepatic Cholestasis Of Pregnancy |
|
|
| Crigler-Najjar Syndrome, Type I |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | SLCO1B3 | RGD | RGD:69300 |
| Mus musculus | SLCO1B3 | MGD | MGI:1351899 |