bile salt export pump; ATP-binding cassette sub-family B member 11 (ABCB11 BSEP)

Function: - role in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes Kinetic parameters: - KM=30.4 uM for taurocholate - Vmax=232 pmol/min/mg enzyme for taurocholate transport Structure: - multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain & an ATP binding cassette domain (ABC domain) - belongs to the ABC transporter family, multidrug resistance exporter (TC 3.A.1.201) subfamily - contains 2 ABC transmembrane type-1 domains; residues 62-385 & 755-1043 - contains 2 ABC transporter domains; residues 420-656 & 1078-1316 Compartment: membrane Expression: - expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli & to subcanalicular vesicles of the hepatocytes by in situ (putative) Pathology: - defects in ABCB11 are the cause of: a) progressive familial intrahepatic cholestasis type 2 b) chronic intrahepatic cholestasis without obvious familial history of chronic liver disease c) benign recurrent intrahepatic cholestasis type 2 - genetic variations in ABCB11 may play a role in drug-induced cholestasis

General

ATP-binding cassette sub-family B (ABC transporter-B, ABCB) glycoprotein phosphoprotein transmembrane 12 protein

Properties

SIZE: entity length = 1321 aa MW = 146 kD COMPARTMENT: cellular membrane MOTIF: cytoplasmic domain {1-62} transmembrane domain {63-83} exoplasmic loop {84-147} MOTIF: N-glycosylation site {N109} N-glycosylation site {N116} N-glycosylation site {N122} N-glycosylation site {N125} transmembrane domain {148-168} cytoplasmic loop {169-215} transmembrane domain {216-236} exoplasmic loop {237-240} transmembrane domain {241-261} cytoplasmic loop {262-319} transmembrane domain {320-340} exoplasmic loop {341-353} transmembrane domain {354-374} cytoplasmic loop {375-755} MOTIF: ATP-binding site NAME: ATP-binding site SITE: 455-462 Ser phosphorylation site {S690} Ser phosphorylation site {S694} Ser phosphorylation site {S701} transmembrane domain {756-776} exoplasmic loop {777-794} transmembrane domain {795-815} cytoplasmic loop {816-869} transmembrane domain {870-890} exoplasmic loop {891-890} transmembrane domain {891-911} cytoplasmic loop {912-979} transmembrane domain {980-1000} exoplasmic loop {1001-1011} transmembrane domain {1012-1032} cytoplasmic domain {1033-1321} MOTIF: ATP-binding site NAME: ATP-binding site SITE: 1113-1120

Database Correlations

OMIM correlations MORBIDMAP 603201 UniProt O95342 PFAM correlations Entrez Gene 8647 Kegg hsa:8647