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

Stable Identifier
R-HSA-5661184
Type
Reaction [transition]
Species
Homo sapiens
Compartment
plasma membrane, extracellular region
ReviewStatus
5/5
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Defective SLCO1B1 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte)
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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
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as an event of
Catalyst Activity

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

Physical Entity
SLCO1B1 mutants [plasma membrane] (Homo sapiens)
Activity
bile acid transmembrane transporter activity (GO:0015125)
Normal reaction
SLCO1B1 transports BIL from extracellular region (blood) to cytosol (hepatocyte) (Homo sapiens)
Functional status

Loss of function of SLCO1B1 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
bilirubin metabolic disorder DOID:2741 hyperbilirubinemia, hereditary hyperbilirubinemia
Authored
Jassal, B  (2015-01-09)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2015-01-09)
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