| Gene Information | |
|---|---|
| Gene Name | BSEP |
| Organism | Homo sapiens (Human) |
| Gene Length | 1321 |
| Protein Names | Bile salt export pump (EC 7.6.2.-) (ATP-binding cassette sub-family B member 11) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | O95342 |
| Gene Card | ABCB11 |
| Uniprot ID | O95342 |
| Pfam | PF00664; PF00005 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed predominantly, if not exclusively in the liver, where it was further localized to the canalicular microvilli and to subcanalicular vesicles of the hepatocytes by in situ. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 6LR0 (EM 3.50A ) 7DV5 (EM 3.70A ) 7E1A (EM 3.66A ) |
| DBSNP | rs11568361 rs72551307 rs11568357 rs72551306 rs200739891 rs11568372 rs2287617 rs72551305 rs371656014 rs121908935 rs2287622 rs2287622 rs2287622 rs1274558905 rs369860506 rs72549402 rs11568369 rs886043807 rs11568367 rs11568370 rs912519986 rs11568364 rs376216286 rs138642043 rs118109635 rs777469571 rs72549400 rs761363245 rs72549399 rs72549398 rs756220860 rs72549395 rs1521808 rs72549394 |
| Subcellular location [CC] | 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}. |
| Mouse PG classification | NA |
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