Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Rotor syndrome Mutations in the SLCO1B3 gene are involved in Rotor syndrome. This condition is characterized by elevated levels of bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). For this condition to occur, individuals must have mutations in the SLCO1B3 gene and a related gene called SLCO1B1. This related gene provides instructions for making a protein called OATP1B1, which has a similar transport function to OATP1B3. In some cases, the condition is caused by a deletion of genetic material that removes parts of both the SLCO1B3 and SLCO1B1 genes, so no functional OATP1B3 or OATP1B1 protein is made. Most mutations that cause Rotor syndrome lead to abnormally short, nonfunctioning OATP1B3 and OATP1B1 proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and cleared from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.

     The SLCO1B3 gene provides instructions for making a protein called organic anion transporting polypeptide 1B3, or OATP1B3. This protein is found in liver cells; it transports compounds from the blood into the liver so that they can be cleared from the body. For example, the OATP1B3 protein transports bilirubin, which is a yellowish substance that is produced when red blood cells are broken down. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body. The OATP1B3 protein also transports certain hormones, toxins, and drugs into the liver for removal from the body. Some of the drugs transported by the OATP1B3 protein include statins, which are used to treat high cholesterol; heart disease medications; certain antibiotics; and some drugs used for the treatment of cancer.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• HNF-4alpha1
• HNF-4alpha2
• STAT5A

Tissue specificity:

Highly expressed in liver, in particular at the basolateral membrane of hepatocytes near the central vein. Not detected in other tissues. Highly expressed in some cancer cell lines derived from colon, pancreas, liver and gall bladder.

Molecular Function:

• Bile Acid Transmembrane Transporter Activity
• Organic Anion Transmembrane Transporter Activity
• Sodium-Independent Organic Anion Transmembrane Transporter Activity

Biological Processes:

• Bile Acid And Bile Salt Transport
• Bile Acid Metabolic Process
• Organic Anion Transport
• Sodium-Independent Organic Anion Transport

Drug Bank:

• Cobimetinib
• Conjugated Estrogens
• Daclatasvir
• Gadoxetate
• Liothyronine
• Liotrix
• Rifampicin
• Rosuvastatin
• Sacubitril
• Ambrisentan
• Atorvastatin
• Cabazitaxel
• Caspofungin
• Cholic Acid
• Clarithromycin
• Dabrafenib
• Digoxin
• Docetaxel
• Estradiol
• Fluvastatin
• Idelalisib
• Levothyroxine
• Methotrexate
• Mycophenolate Mofetil
• Olmesartan
• Ouabain
• Pioglitazone
• Pitavastatin
• Pravastatin
• Rilpivirine
• Romidepsin
• Selexipag
• Cholecystokinin
• Fexofenadine
• Paclitaxel
• Valsartan

*synonyms