Defective SLCO1B1 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte)

Stable Identifier
Reaction [transition]
Homo sapiens
Locations in the PathwayBrowser
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

The solute carrier organic anion transporter family member 1B1 (SLCO1B1) is expressed on the basolateral surfaces of hepatocytes and mediates the uptake of bilirubin (BIL), a breakdown product of heme degradation, to the liver where it is conjugated and excreted from the body. Defects in SLCO1B1 can cause hyperbilirubinemia, Rotor type (HBLRR; MIM:237450), an autosomal recessive form of primary conjugated hyperbilirubinemia. Mild jaundice, not associated with hemolysis, develops shortly after birth or in childhood. Mutations in SLCO1B1 that can cause HBLRR include R580* and R253* (van de Steeg et al. 2012).

Literature References
PubMed ID Title Journal Year
22232210 Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Nosková, L, Kmoch, S, al-Edreesi, M, Jirsa, M, Wagenaar, E, Sticová, E, Knisely, AS, van de Steeg, E, Schinkel, AH, de Waart, DR, Hřebíček, M, Hartmannová, H, van Esch, A, Kenworthy, KE, Oude Elferink, RP, Stranecký, V

J. Clin. Invest. 2012
Catalyst Activity

bile acid transmembrane transporter activity of SLCO1B1 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLCO1B1 mutants [plasma membrane]

Name Identifier Synonyms
bilirubin metabolic disorder DOID:2741 hyperbilirubinemia, hereditary hyperbilirubinemia
Cite Us!