Defective SLCO1B3 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte)

Stable Identifier
R-HSA-5661198
Type
Reaction [transition]
Species
Homo sapiens
Compartment
extracellular region, plasma membrane
ReviewStatus
5/5
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Defective SLCO1B3 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte)
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In the body, solute carrier organic anion transporter family member 1B3 (SLCO1B3) is expressed on the basolateral surfaces of hepatocytes and may play a role in the uptake of bilirubin (BIL), a breakdown product of heme that requires conjugation and excretion from the body. Defects in SLCO1B3 can cause hyperbilirubinemia, Rotor type (HBLRR; MIM:237450), an autosomal recessive form of primary conjugated hyperbilirubinemia. SLCO1B3 mutations that can cause HBLRR are a 7.2-kb deletion, removing exon 12 and causing premature termination of the C-terminal 3 transmembrane domains (not shown here) and I562* (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
Participants
Input
Participates
as an event of
Catalyst Activity

bile acid transmembrane transporter activity of SLCO1B3 I562* [plasma membrane]

Physical Entity
SLCO1B3 I562* [plasma membrane] (Homo sapiens)
Activity
bile acid transmembrane transporter activity (GO:0015125)
Normal reaction
SLCO1B3 transports BIL from extracellular region (blood) to cytosol (hepatocyte) (Homo sapiens)
Functional status

Loss of function of SLCO1B3 I562* [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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