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O95342

- ABCBB_HUMAN

UniProt

O95342 - ABCBB_HUMAN

Protein

Bile salt export pump

Gene

ABCB11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 2 (03 Nov 2009)
      Previous versions | rss
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    Functioni

    Involved in the ATP-dependent secretion of bile salts into the canaliculus of hepatocytes.

    Kineticsi

    1. KM=30.4 µM for taurocholate1 Publication

    Vmax=232 pmol/min/mg enzyme for taurocholate transport1 Publication

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi455 – 4628ATP 1PROSITE-ProRule annotation
    Nucleotide bindingi1113 – 11208ATP 2PROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATPase activity, coupled to transmembrane movement of substances Source: RefGenome
    2. ATP binding Source: ProtInc
    3. bile acid-exporting ATPase activity Source: ProtInc
    4. canalicular bile acid transmembrane transporter activity Source: RefGenome
    5. sodium-exporting ATPase activity, phosphorylative mechanism Source: ProtInc
    6. transporter activity Source: ProtInc

    GO - Biological processi

    1. bile acid and bile salt transport Source: Reactome
    2. bile acid biosynthetic process Source: Reactome
    3. bile acid metabolic process Source: Reactome
    4. canalicular bile acid transport Source: RefGenome
    5. small molecule metabolic process Source: Reactome
    6. sodium ion transmembrane transport Source: GOC
    7. transmembrane transport Source: RefGenome
    8. transport Source: ProtInc

    Keywords - Biological processi

    Transport

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
    REACT_11042. Recycling of bile acids and salts.

    Protein family/group databases

    TCDBi3.A.1.201.2. the atp-binding cassette (abc) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bile salt export pump
    Alternative name(s):
    ATP-binding cassette sub-family B member 11
    Gene namesi
    Name:ABCB11
    Synonyms:BSEP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:42. ABCB11.

    Subcellular locationi

    GO - Cellular componenti

    1. apical part of cell Source: Ensembl
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of membrane Source: RefGenome
    4. integral component of plasma membrane Source: ProtInc
    5. intercellular canaliculus Source: Ensembl
    6. membrane Source: ProtInc
    7. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti238 – 2381G → V in PFIC2. 1 Publication
    VAR_030388
    Natural varianti284 – 2841V → L in PFIC2. 1 Publication
    VAR_013332
    Natural varianti297 – 2971E → G in PFIC2 and BRIC2; reduced transport capacity for taurocholate. 3 Publications
    VAR_010271
    Natural varianti336 – 3361C → S in PFIC2. 1 Publication
    VAR_030390
    Natural varianti461 – 4611K → E in PFIC2. 1 Publication
    VAR_013334
    Natural varianti482 – 4821D → G in PFIC2. 1 Publication
    VAR_013335
    Natural varianti982 – 9821G → R in PFIC2. 1 Publication
    VAR_013336
    Natural varianti1004 – 10041G → D in PFIC2. 1 Publication
    VAR_013337
    Natural varianti1153 – 11531R → C in PFIC2. 1 Publication
    VAR_013338
    Natural varianti1268 – 12681R → Q in PFIC2. 1 Publication
    VAR_013339
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti186 – 1861E → G in BRIC2. 1 Publication
    VAR_030386
    Natural varianti297 – 2971E → G in PFIC2 and BRIC2; reduced transport capacity for taurocholate. 3 Publications
    VAR_010271
    Natural varianti432 – 4321R → T in BRIC2; reduced transport capacity for taurocholate. 1 Publication
    VAR_030391
    Natural varianti570 – 5701A → T in BRIC2. 1 Publication
    VAR_030392
    Natural varianti923 – 9231T → P in BRIC2. 1 Publication
    VAR_030394
    Natural varianti926 – 9261A → P in BRIC2. 1 Publication
    VAR_030395
    Natural varianti1050 – 10501R → C in BRIC2. 1 Publication
    VAR_030396
    Natural varianti1128 – 11281R → H in BRIC2. 1 Publication
    VAR_030397

    Keywords - Diseasei

    Disease mutation, Intrahepatic cholestasis

    Organism-specific databases

    MIMi601847. phenotype.
    605479. phenotype.
    Orphaneti99961. Benign recurrent intrahepatic cholestasis type 2.
    69665. Intrahepatic cholestasis of pregnancy.
    79304. Progressive familial intrahepatic cholestasis type 2.
    PharmGKBiPA374.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13211321Bile salt export pumpPRO_0000093296Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi109 – 1091N-linked (GlcNAc...)1 Publication
    Glycosylationi116 – 1161N-linked (GlcNAc...)1 Publication
    Glycosylationi122 – 1221N-linked (GlcNAc...)1 Publication
    Glycosylationi125 – 1251N-linked (GlcNAc...)1 Publication
    Modified residuei690 – 6901PhosphoserineBy similarity

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiO95342.
    PaxDbiO95342.
    PRIDEiO95342.

    PTM databases

    PhosphoSiteiO95342.

    Expressioni

    Tissue specificityi

    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.

    Gene expression databases

    ArrayExpressiO95342.
    BgeeiO95342.
    CleanExiHS_ABCB11.
    GenevestigatoriO95342.

    Organism-specific databases

    HPAiHPA019035.

    Interactioni

    Subunit structurei

    Interacts with HAX1.By similarity

    Protein-protein interaction databases

    BioGridi114199. 6 interactions.
    IntActiO95342. 2 interactions.
    MINTiMINT-5003953.
    STRINGi9606.ENSP00000263817.

    Structurei

    3D structure databases

    ProteinModelPortaliO95342.
    SMRiO95342. Positions 18-1316.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6262CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini84 – 14764ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini169 – 21547CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini237 – 2404ExtracellularSequence Analysis
    Topological domaini262 – 31958CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini341 – 35313ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini375 – 755381CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini777 – 79418ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini816 – 86954CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini912 – 97968CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1001 – 101111ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1033 – 1321289CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei63 – 8321HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei148 – 16821HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei216 – 23621HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei241 – 26121HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei320 – 34021HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei354 – 37421HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei756 – 77621HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei795 – 81521HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei870 – 89021HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei891 – 91121HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei980 – 100021HelicalPROSITE-ProRule annotationAdd
    BLAST
    Transmembranei1012 – 103221HelicalPROSITE-ProRule annotationAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini62 – 385324ABC transmembrane type-1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini420 – 656237ABC transporter 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini755 – 1043289ABC transmembrane type-1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1078 – 1316239ABC transporter 2PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni651 – 67222Interaction with HAX1By similarityAdd
    BLAST

    Domaini

    Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

    Sequence similaritiesi

    Contains 2 ABC transmembrane type-1 domains.PROSITE-ProRule annotation
    Contains 2 ABC transporter domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1132.
    HOVERGENiHBG080809.
    InParanoidiO95342.
    KOiK05664.
    OMAiTIVWTNS.
    PhylomeDBiO95342.
    TreeFamiTF105193.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF00664. ABC_membrane. 2 hits.
    PF00005. ABC_tran. 2 hits.
    [Graphical view]
    SMARTiSM00382. AAA. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 3 hits.
    PROSITEiPS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O95342-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSDSVILRSI KKFGEENDGF ESDKSYNNDK KSRLQDEKKG DGVRVGFFQL     50
    FRFSSSTDIW LMFVGSLCAF LHGIAQPGVL LIFGTMTDVF IDYDVELQEL 100
    QIPGKACVNN TIVWTNSSLN QNMTNGTRCG LLNIESEMIK FASYYAGIAV 150
    AVLITGYIQI CFWVIAAARQ IQKMRKFYFR RIMRMEIGWF DCNSVGELNT 200
    RFSDDINKIN DAIADQMALF IQRMTSTICG FLLGFFRGWK LTLVIISVSP 250
    LIGIGAATIG LSVSKFTDYE LKAYAKAGVV ADEVISSMRT VAAFGGEKRE 300
    VERYEKNLVF AQRWGIRKGI VMGFFTGFVW CLIFLCYALA FWYGSTLVLD 350
    EGEYTPGTLV QIFLSVIVGA LNLGNASPCL EAFATGRAAA TSIFETIDRK 400
    PIIDCMSEDG YKLDRIKGEI EFHNVTFHYP SRPEVKILND LNMVIKPGEM 450
    TALVGPSGAG KSTALQLIQR FYDPCEGMVT VDGHDIRSLN IQWLRDQIGI 500
    VEQEPVLFST TIAENIRYGR EDATMEDIVQ AAKEANAYNF IMDLPQQFDT 550
    LVGEGGGQMS GGQKQRVAIA RALIRNPKIL LLDMATSALD NESEAMVQEV 600
    LSKIQHGHTI ISVAHRLSTV RAADTIIGFE HGTAVERGTH EELLERKGVY 650
    FTLVTLQSQG NQALNEEDIK DATEDDMLAR TFSRGSYQDS LRASIRQRSK 700
    SQLSYLVHEP PLAVVDHKST YEEDRKDKDI PVQEEVEPAP VRRILKFSAP 750
    EWPYMLVGSV GAAVNGTVTP LYAFLFSQIL GTFSIPDKEE QRSQINGVCL 800
    LFVAMGCVSL FTQFLQGYAF AKSGELLTKR LRKFGFRAML GQDIAWFDDL 850
    RNSPGALTTR LATDASQVQG AAGSQIGMIV NSFTNVTVAM IIAFSFSWKL 900
    SLVILCFFPF LALSGATQTR MLTGFASRDK QALEMVGQIT NEALSNIRTV 950
    AGIGKERRFI EALETELEKP FKTAIQKANI YGFCFAFAQC IMFIANSASY 1000
    RYGGYLISNE GLHFSYVFRV ISAVVLSATA LGRAFSYTPS YAKAKISAAR 1050
    FFQLLDRQPP ISVYNTAGEK WDNFQGKIDF VDCKFTYPSR PDSQVLNGLS 1100
    VSISPGQTLA FVGSSGCGKS TSIQLLERFY DPDQGKVMID GHDSKKVNVQ 1150
    FLRSNIGIVS QEPVLFACSI MDNIKYGDNT KEIPMERVIA AAKQAQLHDF 1200
    VMSLPEKYET NVGSQGSQLS RGEKQRIAIA RAIVRDPKIL LLDEATSALD 1250
    TESEKTVQVA LDKAREGRTC IVIAHRLSTI QNADIIAVMA QGVVIEKGTH 1300
    EELMAQKGAY YKLVTTGSPI S 1321
    Length:1,321
    Mass (Da):146,407
    Last modified:November 3, 2009 - v2
    Checksum:i61EE2173E2351D80
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti339 – 3391L → V in AAC77455. (PubMed:9806540)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti56 – 561S → L.
    Corresponds to variant rs11568361 [ dbSNP | Ensembl ].
    VAR_055472
    Natural varianti186 – 1861E → G in BRIC2. 1 Publication
    VAR_030386
    Natural varianti206 – 2061I → V.1 Publication
    Corresponds to variant rs11568357 [ dbSNP | Ensembl ].
    VAR_030387
    Natural varianti238 – 2381G → V in PFIC2. 1 Publication
    VAR_030388
    Natural varianti284 – 2841V → A.2 Publications
    VAR_035349
    Natural varianti284 – 2841V → L in PFIC2. 1 Publication
    VAR_013332
    Natural varianti297 – 2971E → G in PFIC2 and BRIC2; reduced transport capacity for taurocholate. 3 Publications
    VAR_010271
    Natural varianti299 – 2991R → K.1 Publication
    Corresponds to variant rs2287617 [ dbSNP | Ensembl ].
    VAR_030389
    Natural varianti336 – 3361C → S in PFIC2. 1 Publication
    VAR_030390
    Natural varianti415 – 4151R → Q.1 Publication
    VAR_043074
    Natural varianti432 – 4321R → T in BRIC2; reduced transport capacity for taurocholate. 1 Publication
    VAR_030391
    Natural varianti444 – 4441V → A More frequent in patients with drug-induced cholestasis than healthy controls; associated with lower hepatic expression; does not affect transport capacity for taurocholate. 6 Publications
    Corresponds to variant rs2287622 [ dbSNP | Ensembl ].
    VAR_013333
    Natural varianti444 – 4441V → D.
    Corresponds to variant rs2287622 [ dbSNP | Ensembl ].
    VAR_059106
    Natural varianti444 – 4441V → G.
    Corresponds to variant rs2287622 [ dbSNP | Ensembl ].
    VAR_059107
    Natural varianti461 – 4611K → E in PFIC2. 1 Publication
    VAR_013334
    Natural varianti482 – 4821D → G in PFIC2. 1 Publication
    VAR_013335
    Natural varianti570 – 5701A → T in BRIC2. 1 Publication
    VAR_030392
    Natural varianti591 – 5911N → S in a patient with intrahepatic cholestasis of pregnancy. 1 Publication
    Corresponds to variant rs11568367 [ dbSNP | Ensembl ].
    VAR_043075
    Natural varianti616 – 6161R → G.1 Publication
    VAR_035350
    Natural varianti619 – 6191T → A.1 Publication
    VAR_035351
    Natural varianti676 – 6761D → Y in fluvastatin-induced cholestasis; does not affect transport capacity for taurocholate. 1 Publication
    VAR_043076
    Natural varianti677 – 6771M → V Does not affect transport capacity for taurocholate. 4 Publications
    Corresponds to variant rs11568364 [ dbSNP | Ensembl ].
    VAR_030393
    Natural varianti698 – 6981R → H.2 Publications
    Corresponds to variant rs138642043 [ dbSNP | Ensembl ].
    VAR_035352
    Natural varianti855 – 8551G → R in ethinylestradiol/gestodene-induced cholestasis; loss of transport capacity for taurocholate. 1 Publication
    VAR_043077
    Natural varianti865 – 8651A → V.1 Publication
    Corresponds to variant rs118109635 [ dbSNP | Ensembl ].
    VAR_035353
    Natural varianti923 – 9231T → P in BRIC2. 1 Publication
    VAR_030394
    Natural varianti926 – 9261A → P in BRIC2. 1 Publication
    VAR_030395
    Natural varianti958 – 9581R → Q.1 Publication
    VAR_035354
    Natural varianti982 – 9821G → R in PFIC2. 1 Publication
    VAR_013336
    Natural varianti1004 – 10041G → D in PFIC2. 1 Publication
    VAR_013337
    Natural varianti1050 – 10501R → C in BRIC2. 1 Publication
    VAR_030396
    Natural varianti1128 – 11281R → H in BRIC2. 1 Publication
    VAR_030397
    Natural varianti1153 – 11531R → C in PFIC2. 1 Publication
    VAR_013338
    Natural varianti1186 – 11861E → K.
    Corresponds to variant rs1521808 [ dbSNP | Ensembl ].
    VAR_030398
    Natural varianti1268 – 12681R → Q in PFIC2. 1 Publication
    VAR_013339

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF091582 mRNA. Translation: AAC77455.1.
    AF136523 mRNA. Translation: AAD28285.1.
    AC008177 Genomic DNA. Translation: AAY24305.1.
    AC093723 Genomic DNA. No translation available.
    AC069137 Genomic DNA. No translation available.
    CCDSiCCDS46444.1.
    RefSeqiNP_003733.2. NM_003742.2.
    UniGeneiHs.658439.

    Genome annotation databases

    EnsembliENST00000263817; ENSP00000263817; ENSG00000073734.
    GeneIDi8647.
    KEGGihsa:8647.
    UCSCiuc002ueo.1. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    ABCMdb

    Database for mutations in ABC proteins

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF091582 mRNA. Translation: AAC77455.1 .
    AF136523 mRNA. Translation: AAD28285.1 .
    AC008177 Genomic DNA. Translation: AAY24305.1 .
    AC093723 Genomic DNA. No translation available.
    AC069137 Genomic DNA. No translation available.
    CCDSi CCDS46444.1.
    RefSeqi NP_003733.2. NM_003742.2.
    UniGenei Hs.658439.

    3D structure databases

    ProteinModelPortali O95342.
    SMRi O95342. Positions 18-1316.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114199. 6 interactions.
    IntActi O95342. 2 interactions.
    MINTi MINT-5003953.
    STRINGi 9606.ENSP00000263817.

    Chemistry

    BindingDBi O95342.
    ChEMBLi CHEMBL6020.
    DrugBanki DB00171. Adenosine triphosphate.
    DB00559. Bosentan.
    DB00477. Chlorpromazine.
    DB00501. Cimetidine.
    DB00845. Clofazimine.
    DB00091. Cyclosporine.
    DB00694. Daunorubicin.
    DB01234. Dexamethasone.
    DB00390. Digoxin.
    DB00997. Doxorubicin.
    DB00977. Ethinyl Estradiol.
    DB00693. Fluorescein.
    DB02703. Fusidic Acid.
    DB01016. Glyburide.
    DB01026. Ketoconazole.
    DB01051. Novobiocin.
    DB01229. Paclitaxel.
    DB01174. Phenobarbital.
    DB08901. Ponatinib.
    DB00175. Pravastatin.
    DB00396. Progesterone.
    DB00908. Quinidine.
    DB00206. Reserpine.
    DB01045. Rifampicin.
    DB01098. Rosuvastatin.
    DB00675. Tamoxifen.
    DB01586. Ursodeoxycholic acid.
    DB00661. Verapamil.
    DB00570. Vinblastine.
    DB00541. Vincristine.

    Protein family/group databases

    TCDBi 3.A.1.201.2. the atp-binding cassette (abc) superfamily.

    PTM databases

    PhosphoSitei O95342.

    Proteomic databases

    MaxQBi O95342.
    PaxDbi O95342.
    PRIDEi O95342.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263817 ; ENSP00000263817 ; ENSG00000073734 .
    GeneIDi 8647.
    KEGGi hsa:8647.
    UCSCi uc002ueo.1. human.

    Organism-specific databases

    CTDi 8647.
    GeneCardsi GC02M169743.
    GeneReviewsi ABCB11.
    H-InvDB HIX0029772.
    HGNCi HGNC:42. ABCB11.
    HPAi HPA019035.
    MIMi 601847. phenotype.
    603201. gene.
    605479. phenotype.
    neXtProti NX_O95342.
    Orphaneti 99961. Benign recurrent intrahepatic cholestasis type 2.
    69665. Intrahepatic cholestasis of pregnancy.
    79304. Progressive familial intrahepatic cholestasis type 2.
    PharmGKBi PA374.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1132.
    HOVERGENi HBG080809.
    InParanoidi O95342.
    KOi K05664.
    OMAi TIVWTNS.
    PhylomeDBi O95342.
    TreeFami TF105193.

    Enzyme and pathway databases

    Reactomei REACT_11041. Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol.
    REACT_11042. Recycling of bile acids and salts.

    Miscellaneous databases

    ChiTaRSi ABCB11. human.
    GeneWikii ABCB11.
    GenomeRNAii 8647.
    NextBioi 32419.
    PROi O95342.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95342.
    Bgeei O95342.
    CleanExi HS_ABCB11.
    Genevestigatori O95342.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR003593. AAA+_ATPase.
    IPR011527. ABC1_TM_dom.
    IPR003439. ABC_transporter-like.
    IPR017871. ABC_transporter_CS.
    IPR001140. ABC_transptr_TM_dom.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF00664. ABC_membrane. 2 hits.
    PF00005. ABC_tran. 2 hits.
    [Graphical view ]
    SMARTi SM00382. AAA. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    SSF90123. SSF90123. 3 hits.
    PROSITEi PS50929. ABC_TM1F. 2 hits.
    PS00211. ABC_TRANSPORTER_1. 1 hit.
    PS50893. ABC_TRANSPORTER_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PFIC2 GLY-297; GLU-461; GLY-482; ARG-982; CYS-1153 AND GLN-1268.
    2. "Cellular localization and functional characterization of the human bile salt export pump (BSEP)."
      Mol O., Hooiveld G.J.E.J., Jansen P.L.M., Muller M.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-444.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Two N-linked glycans are required to maintain the transport activity of the bile salt export pump (ABCB11) in MDCK II cells."
      Mochizuki K., Kagawa T., Numari A., Harris M.J., Itoh J., Watanabe N., Mine T., Arias I.M.
      Am. J. Physiol. 292:G818-G828(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-109; ASN-116; ASN-122 AND ASN-125.
    5. Cited for: VARIANTS PFIC2 VAL-238 AND SER-336.
    6. "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., Iida A., Sekine A., Miura Y., Ogawa C., Kawauchi S., Higuchi S., Nakamura Y.
      J. Hum. Genet. 47:38-50(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ALA-444.
    7. "FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels."
      Chen H.-L., Chang P.-S., Hsu H.-C., Ni Y.-H., Hsu H.-Y., Lee J.-H., Jeng Y.-M., Shau W.-Y., Chang M.-H.
      J. Pediatr. 140:119-124(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PFIC2 LEU-284 AND ASP-1004.
    8. Cited for: VARIANTS BRIC2 GLY-186; GLY-297; THR-570; PRO-923; PRO-926; CYS-1050 AND HIS-1128.
    9. "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., Lang T., Meier Y., Zodan-Marin T., Jung D., Breymann C., Zimmermann R., Kenngott S., Beuers U., Reichel C., Kerb R., Penger A., Meier P.J., Kullak-Ublick G.A.
      Pharmacogenetics 14:91-102(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLN-415; ALA-444; SER-591 AND VAL-677.
    10. "Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis."
      Noe J., Kullak-Ublick G.A., Jochum W., Stieger B., Kerb R., Haberl M., Muellhaupt B., Meier P.J., Pauli-Magnus C.
      J. Hepatol. 43:536-543(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BRIC2 GLY-297 AND THR-432, CHARACTERIZATION OF VARIANTS BRIC2 GLY-297 AND THR-432.
    11. "Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11)."
      Lang T., Haberl M., Jung D., Drescher A., Schlagenhaufer R., Keil A., Mornhinweg E., Stieger B., Kullak-Ublick G.A., Kerb R.
      Drug Metab. Dispos. 34:1582-1599(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS VAL-206; ALA-284; LYS-299; ALA-444; GLY-616; ALA-619; VAL-677; HIS-698; VAL-865 AND GLN-958.
    12. "Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver."
      Meier Y., Pauli-Magnus C., Zanger U.M., Klein K., Schaeffeler E., Nussler A.K., Nussler N., Eichelbaum M., Meier P.J., Stieger B.
      Hepatology 44:62-74(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALA-444 AND VAL-677.
    13. "Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury."
      Lang C., Meier Y., Stieger B., Beuers U., Lang T., Kerb R., Kullak-Ublick G.A., Meier P.J., Pauli-Magnus C.
      Pharmacogenet. Genomics 17:47-60(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ALA-284; ALA-444; TYR-676; VAL-677; HIS-698 AND ARG-855, BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANTS ALA-444; TYR-676; VAL-677 AND ARG-855.

    Entry informationi

    Entry nameiABCBB_HUMAN
    AccessioniPrimary (citable) accession number: O95342
    Secondary accession number(s): Q53TL2, Q9UNB2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2001
    Last sequence update: November 3, 2009
    Last modified: October 1, 2014
    This is version 139 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3