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MGP004970

UniProt Annotations

Entry Information
Gene Namesolute carrier organic anion transporter family, member 1B3
Protein EntrySO1B3_HUMAN
UniProt IDQ9NPD5
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NPD5-1; Sequence=Displayed; Name=2; IsoId=Q9NPD5-2; Sequence=VSP_056615, VSP_056616, VSP_056617;
DiseaseHyperbilirubinemia, Rotor type (HBLRR) [MIM:237450]: An autosomal recessive form of primary conjugated hyperbilirubinemia. Affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. They have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and prominent urinary excretion of coproporphyrin I. Hepatic pigmentation is normal. {ECO:0000269|PubMed:22232210}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMediates the Na(+)-independent uptake of organic anions such as 17-beta-glucuronosyl estradiol, taurocholate, triiodothyronine (T3), leukotriene C4, dehydroepiandrosterone sulfate (DHEAS), methotrexate and sulfobromophthalein (BSP). Involved in the clearance of bile acids and organic anions from the liver. {ECO:0000269|PubMed:22232210}.
PtmN-glycosylated. {ECO:0000269|PubMed:10779507}.
SimilarityBelongs to the organo anion transporter (TC 2.A.60) family. {ECO:0000305}.
SimilarityContains 1 Kazal-like domain. {ECO:0000255|PROSITE- ProRule:PRU00798}.
Subcellular LocationBasolateral cell membrane; Multi-pass membrane protein.
Tissue SpecificityHighly 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.
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