ABCB11
entrez
8647
canonical
uniprot
O95342
canonical
ensembl
ENSG00000073734
resolver
ensp
ENSP00000497165
resolver
ensp
ENSP00000497931
resolver
ensp
ENSP00000529032
resolver
enst
ENST00000650372
resolver
genesymbol
ABCB11
resolver
genesymbol_syn
BSEP
resolver
hgnc
HGNC:42
resolver
uniprot
Q53TL2
resolver
uniprot
Q9UNB2
resolver
uniprot_entry
ABCBB_HUMAN
resolver
uniprot_sec
Q53TL2
resolver
uniprot_sec
Q9UNB2
resolver
activity_regulation
ACTIVITY REGULATION: The uptake of taurocholate is inhibited by taurolithocholate sulfate with an IC(50) of 9 uM (PubMed:16332456). Pravastatin competitively inhibits the transport of taurocholic acid (PubMed:15901796, PubMed:18985798). Cyclosporin A, glibenclamide, rifampicin and troglitazonestrongly competitively inhibit the transport activity of taurocholate (PubMed:18985798, PubMed:32203132). The canalicular transport activity of taurocholate is strongly dependent on canalicular membrane cholesterol content (PubMed:19228692). The uptake of taurocholate is increased by short- and medium-chain fatty acids (PubMed:20398791). Cholesterol increases transport capacity of taurocholate without affecting the affinity for the substrate (PubMed:24711118). {ECO:0000269|PubMed:15901796, ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:18985798, ECO:0000269|PubMed:19228692, ECO:0000269|PubMed:20398791, ECO:0000269|PubMed:24711118, ECO:0000269|PubMed:32203132}.
uniprot
proteins
amino_acid_sequence
MSDSVILRSIKKFGEENDGFESDKSYNNDKKSRLQDEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQPGVLLIFGTMTDVFIDYDVELQELQIPGKACVNNTIVWTNSSLNQNMTNGTRCGLLNIESEMIKFASYYAGIAVAVLITGYIQICFWVIAAARQIQKMRKFYFRRIMRMEIGWFDCNSVGELNTRFSDDINKINDAIADQMALFIQRMTSTICGFLLGFFRGWKLTLVIISVSPLIGIGAATIGLSVSKFTDYELKAYAKAGVVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWGIRKGIVMGFFTGFVWCLIFLCYALAFWYGSTLVLDEGEYTPGTLVQIFLSVIVGALNLGNASPCLEAFATGRAAATSIFETIDRKPIIDCMSEDGYKLDRIKGEIEFHNVTFHYPSRPEVKILNDLNMVIKPGEMTALVGPSGAGKSTALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVEQEPVLFSTTIAENIRYGREDATMEDIVQAAKEANAYNFIMDLPQQFDTLVGEGGGQMSGGQKQRVAIARALIRNPKILLLDMATSALDNESEAMVQEVLSKIQHGHTIISVAHRLSTVRAADTIIGFEHGTAVERGTHEELLERKGVYFTLVTLQSQGNQALNEEDIKDATEDDMLARTFSRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVDHKSTYEEDRKDKDIPVQEEVEPAPVRRILKFSAPEWPYMLVGSVGAAVNGTVTPLYAFLFSQILGTFSIPDKEEQRSQINGVCLLFVAMGCVSLFTQFLQGYAFAKSGELLTKRLRKFGFRAMLGQDIAWFDDLRNSPGALTTRLATDASQVQGAAGSQIGMIVNSFTNVTVAMIIAFSFSWKLSLVILCFFPFLALSGATQTRMLTGFASRDKQALEMVGQITNEALSNIRTVAGIGKERRFIEALETELEKPFKTAIQKANIYGFCFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAVVLSATALGRAFSYTPSYAKAKISAARFFQLLDRQPPISVYNTAGEKWDNFQGKIDFVDCKFTYPSRPDSQVLNGLSVSISPGQTLAFVGSSGCGKSTSIQLLERFYDPDQGKVMIDGHDSKKVNVQFLRSNIGIVSQEPVLFACSIMDNIKYGDNTKEIPMERVIAAAKQAQLHDFVMSLPEKYETNVGSQGSQLSRGEKQRIAIARAIVRDPKILLLDEATSALDTESEKTVQVALDKAREGRTCIVIAHRLSTIQNADIIAVMAQGVVIEKGTHEELMAQKGAYYKLVTTGSPIS
uniprot
proteins
disease_involvement
DISEASE: Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive. {ECO:0000269|PubMed:10579978, ECO:0000269|PubMed:11815775, ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:18829893, ECO:0000269|PubMed:20010382, ECO:0000269|PubMed:24969679, ECO:0000269|PubMed:29507376, ECO:0000269|PubMed:9806540}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cholestasis, benign recurrent intrahepatic, 2 (BRIC2) [MIM:605479]: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269|PubMed:15300568, ECO:0000269|PubMed:16039748, ECO:0000269|PubMed:24711118}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.6.2.-
uniprot
proteins
function
FUNCTION: Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:15791618, PubMed:16332456, PubMed:18985798, PubMed:19228692, PubMed:20010382, PubMed:20398791, PubMed:22262466, PubMed:24711118, PubMed:29507376, PubMed:32203132). Transports taurine-conjugated bile salts more rapidly than glycine-conjugated bile salts (PubMed:16332456). Also transports non-bile acid compounds, such as pravastatin and fexofenadine in an ATP-dependent manner and may be involved in their biliary excretion (PubMed:15901796, PubMed:18245269). {ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:15901796, ECO:0000269|PubMed:16332456, ECO:0000269|PubMed:18245269, ECO:0000269|PubMed:18985798, ECO:0000269|PubMed:19228692, ECO:0000269|PubMed:20010382, ECO:0000269|PubMed:20398791, ECO:0000269|PubMed:22262466, ECO:0000269|PubMed:24711118, ECO:0000269|PubMed:29507376, ECO:0000269|PubMed:32203132}.
uniprot
proteins
mass_dalton
146407
uniprot
proteins
mutagenesis
MUTAGEN 1..441; /note="Missing: Does not affect ATPase-coupled bile acid transport activity. Decreases protein stability."; /evidence="ECO:0000269|PubMed:32203132"; MUTAGEN 1311; /note="Y->A: Loss of interaction with AP2A1 and AP2A2. Promotes ABCB11 plasma membrane trafficking. Does not affect plasma membrane localization. Inhibits ABCB11 internalization."; /evidence="ECO:0000269|PubMed:22262466
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:18829893}.; PTM: Ubiquitinated; short-chain ubiquitination regulates cell-Surface expression of ABCB11. {ECO:0000269|PubMed:18829893}.
uniprot
proteins
protein_family
ABC transporter superfamily
uniprot
proteins
protein_family
ABCB family
uniprot
proteins
protein_family
Multidrug resistance exporter (TC 3.A.1.201) subfamily
uniprot
proteins
pubmed
10579978
uniprot
proteins
pubmed
11815775
uniprot
proteins
pubmed
11829140
uniprot
proteins
pubmed
15077010
uniprot
proteins
pubmed
15300568
uniprot
proteins
pubmed
15791618
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
15901796
uniprot
proteins
pubmed
16039748
uniprot
proteins
pubmed
16332456
uniprot
proteins
pubmed
16763017
uniprot
proteins
pubmed
16799996
uniprot
proteins
pubmed
17082223
uniprot
proteins
pubmed
17264802
uniprot
proteins
pubmed
18245269
uniprot
proteins
pubmed
18829893
uniprot
proteins
pubmed
18985798
uniprot
proteins
pubmed
19228692
uniprot
proteins
pubmed
20010382
uniprot
proteins
pubmed
20398791
uniprot
proteins
pubmed
22262466
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24711118
uniprot
proteins
pubmed
24969679
uniprot
proteins
pubmed
29507376
uniprot
proteins
pubmed
30431138
uniprot
proteins
pubmed
32203132
uniprot
proteins
pubmed
9806540
uniprot
proteins
sequence_length
1321
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:22262466}; Multi-pass membrane protein {ECO:0000255}. Recycling endosome membrane {ECO:0000250|UniProtKB:O70127}; Multi-pass membrane protein {ECO:0000250|UniProtKB:O70127}. Endosome {ECO:0000250|UniProtKB:O70127}. Cell membrane {ECO:0000269|PubMed:20010382, ECO:0000269|PubMed:22262466, ECO:0000269|PubMed:29507376, ECO:0000269|PubMed:30431138}; Multi-pass membrane protein {ECO:0000255}. Note=Internalized at the canalicular membrane through interaction with the adapter protein complex 2 (AP-2) (PubMed:22262466). At steady state, localizes in the canalicular membrane but is also present in recycling endosomes. ABCB11 constantly and rapidly exchanges between the two sites through tubulo-vesicles carriers that move along microtubules. Microtubule-dependent trafficking of ABCB11 is enhanced by taurocholate and cAMP and regulated by STK11 through a PKA-mediated pathway. Trafficking of newly synthesized ABCB11 through endosomal compartment to the bile canalicular membrane is accelerated by cAMP but not by taurocholate (By similarity). Cell membrane expression is up-regulated by short- and medium-chain fatty acids (PubMed:20398791). {ECO:0000250|UniProtKB:O70127, ECO:0000269|PubMed:20398791, ECO:0000269|PubMed:22262466}.
uniprot
proteins
transmembrane_region
TRANSMEM 63..83; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 148..168; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 216..236; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 241..261; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 320..340; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 354..374; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 756..776; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 795..815; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 870..890; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 891..911; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 980..1000; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441"; TRANSMEM 1012..1032; /note="Helical"; /evidence="ECO:0000255|PROSITE-ProRule:PRU00441
uniprot
proteins