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| Accession Number: | O95342 |
| Protein Name: | AB11 aka BSEP aka SPGP aka ABCB11 |
| Length: | 1321 |
| Molecular Weight: | 146407.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 12 |
| Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
| Substrate | bile acid taurine conjugate, bile acid salt, bile acid glycine conjugate, bile acid |
Cross database links:
| RefSeq: | NP_003733.2 |
|---|---|
| Entrez Gene ID: | 8647 |
| Pfam: | PF00664 PF00005 |
| OMIM: |
601847 phenotype 603201 gene 605479 phenotype |
| KEGG: | hsa:8647 |
Gene Ontology
GO:0005887
C:integral to plasma membrane
GO:0005624
C:membrane fraction
GO:0005524
F:ATP binding
GO:0015432
F:bile acid-exporting ATPase activity
GO:0008554
F:sodium-exporting ATPase activity, phosphory...
GO:0055085
P:transmembrane transport
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References (11)[1] “A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.” Strautnieks S.S.et.al. 9806540 [2] “Generation and annotation of the DNA sequences of human chromosomes 2 and 4.” Hillier L.W.et.al. 15815621 [3] “Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.” Jansen P.L.M.et.al. 10579978 [4] “Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population.” Saito S.et.al. 11829140 [5] “FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.” Chen H.-L.et.al. 11815775 [6] “Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.” van Mil S.W.C.et.al. 15300568 [7] “Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.” Pauli-Magnus C.et.al. 15077010 [8] “Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis.” Noe J.et.al. 16039748 [9] “Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).” Lang T.et.al. 16763017 [10] “Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver.” Meier Y.et.al. 16799996 [11] “Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.” Lang C.et.al. 17264802
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| Structure: | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MSDSVILRSI KKFGEENDGF ESDKSYNNDK KSRLQDEKKG DGVRVGFFQL FRFSSSTDIW 61: LMFVGSLCAF LHGIAQPGVL LIFGTMTDVF IDYDVELQEL QIPGKACVNN TIVWTNSSLN 121: QNMTNGTRCG LLNIESEMIK FASYYAGIAV AVLITGYIQI CFWVIAAARQ IQKMRKFYFR 181: RIMRMEIGWF DCNSVGELNT RFSDDINKIN DAIADQMALF IQRMTSTICG FLLGFFRGWK 241: LTLVIISVSP LIGIGAATIG LSVSKFTDYE LKAYAKAGVV ADEVISSMRT VAAFGGEKRE 301: VERYEKNLVF AQRWGIRKGI VMGFFTGFVW CLIFLCYALA FWYGSTLVLD EGEYTPGTLV 361: QIFLSVIVGA LNLGNASPCL EAFATGRAAA TSIFETIDRK PIIDCMSEDG YKLDRIKGEI 421: EFHNVTFHYP SRPEVKILND LNMVIKPGEM TALVGPSGAG KSTALQLIQR FYDPCEGMVT 481: VDGHDIRSLN IQWLRDQIGI VEQEPVLFST TIAENIRYGR EDATMEDIVQ AAKEANAYNF 541: IMDLPQQFDT LVGEGGGQMS GGQKQRVAIA RALIRNPKIL LLDMATSALD NESEAMVQEV 601: LSKIQHGHTI ISVAHRLSTV RAADTIIGFE HGTAVERGTH EELLERKGVY FTLVTLQSQG 661: NQALNEEDIK DATEDDMLAR TFSRGSYQDS LRASIRQRSK SQLSYLVHEP PLAVVDHKST 721: YEEDRKDKDI PVQEEVEPAP VRRILKFSAP EWPYMLVGSV GAAVNGTVTP LYAFLFSQIL 781: GTFSIPDKEE QRSQINGVCL LFVAMGCVSL FTQFLQGYAF AKSGELLTKR LRKFGFRAML 841: GQDIAWFDDL RNSPGALTTR LATDASQVQG AAGSQIGMIV NSFTNVTVAM IIAFSFSWKL 901: SLVILCFFPF LALSGATQTR MLTGFASRDK QALEMVGQIT NEALSNIRTV AGIGKERRFI 961: EALETELEKP FKTAIQKANI YGFCFAFAQC IMFIANSASY RYGGYLISNE GLHFSYVFRV 1021: ISAVVLSATA LGRAFSYTPS YAKAKISAAR FFQLLDRQPP ISVYNTAGEK WDNFQGKIDF 1081: VDCKFTYPSR PDSQVLNGLS VSISPGQTLA FVGSSGCGKS TSIQLLERFY DPDQGKVMID 1141: GHDSKKVNVQ FLRSNIGIVS QEPVLFACSI MDNIKYGDNT KEIPMERVIA AAKQAQLHDF 1201: VMSLPEKYET NVGSQGSQLS RGEKQRIAIA RAIVRDPKIL LLDEATSALD TESEKTVQVA 1261: LDKAREGRTC IVIAHRLSTI QNADIIAVMA QGVVIEKGTH EELMAQKGAY YKLVTTGSPI 1321: S