Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Bile salt export pump

Gene

ABCB11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Kineticsi

  1. KM=30.4 µM for taurocholate1 Publication
  1. 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

  • ATP binding Source: ProtInc
  • bile acid-exporting ATPase activity Source: ProtInc
  • canalicular bile acid transmembrane transporter activity Source: GO_Central
  • sodium-exporting ATPase activity, phosphorylative mechanism Source: ProtInc
  • transporter activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

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 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:42. ABCB11.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 6262CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei63 – 8321HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini84 – 14764ExtracellularSequence AnalysisAdd
BLAST
Transmembranei148 – 16821HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini169 – 21547CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei216 – 23621HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini237 – 2404ExtracellularSequence Analysis
Transmembranei241 – 26121HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini262 – 31958CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei320 – 34021HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini341 – 35313ExtracellularSequence AnalysisAdd
BLAST
Transmembranei354 – 37421HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini375 – 755381CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei756 – 77621HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini777 – 79418ExtracellularSequence AnalysisAdd
BLAST
Transmembranei795 – 81521HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini816 – 86954CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei870 – 89021HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei891 – 91121HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini912 – 97968CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei980 – 100021HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini1001 – 101111ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1012 – 103221HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini1033 – 1321289CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • apical part of cell Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • intercellular canaliculus Source: Ensembl
  • membrane Source: ProtInc
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cholestasis, progressive familial intrahepatic, 2 (PFIC2)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

See also OMIM:601847
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)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:605479
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.

Chemistry

DrugBankiDB00171. Adenosine triphosphate.
DB00559. Bosentan.
DB00477. Chlorpromazine.
DB02659. Cholic Acid.
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.

Polymorphism and mutation databases

BioMutaiABCB11.

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 residuei586 – 5861Phosphothreonine1 Publication
Modified residuei587 – 5871Phosphoserine1 Publication
Modified residuei690 – 6901PhosphoserineBy similarity
Modified residuei704 – 7041Phosphoserine1 Publication
Modified residuei1214 – 12141Phosphoserine1 Publication

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

BgeeiO95342.
CleanExiHS_ABCB11.
ExpressionAtlasiO95342. baseline and differential.
GenevisibleiO95342. HS.

Organism-specific databases

HPAiHPA019035.

Interactioni

Subunit structurei

Interacts with HAX1.By similarity

Protein-protein interaction databases

BioGridi114199. 5 interactions.
IntActiO95342. 2 interactions.
MINTiMINT-5003953.
STRINGi9606.ENSP00000263817.

Structurei

3D structure databases

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

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.
GeneTreeiENSGT00530000062896.
HOVERGENiHBG080809.
InParanoidiO95342.
KOiK05664.
OMAiCAFLHGI.
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.
IPR030278. BSEP.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR24221:SF165. PTHR24221:SF165. 1 hit.
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

        10         20         30         40         50
MSDSVILRSI KKFGEENDGF ESDKSYNNDK KSRLQDEKKG DGVRVGFFQL
60 70 80 90 100
FRFSSSTDIW LMFVGSLCAF LHGIAQPGVL LIFGTMTDVF IDYDVELQEL
110 120 130 140 150
QIPGKACVNN TIVWTNSSLN QNMTNGTRCG LLNIESEMIK FASYYAGIAV
160 170 180 190 200
AVLITGYIQI CFWVIAAARQ IQKMRKFYFR RIMRMEIGWF DCNSVGELNT
210 220 230 240 250
RFSDDINKIN DAIADQMALF IQRMTSTICG FLLGFFRGWK LTLVIISVSP
260 270 280 290 300
LIGIGAATIG LSVSKFTDYE LKAYAKAGVV ADEVISSMRT VAAFGGEKRE
310 320 330 340 350
VERYEKNLVF AQRWGIRKGI VMGFFTGFVW CLIFLCYALA FWYGSTLVLD
360 370 380 390 400
EGEYTPGTLV QIFLSVIVGA LNLGNASPCL EAFATGRAAA TSIFETIDRK
410 420 430 440 450
PIIDCMSEDG YKLDRIKGEI EFHNVTFHYP SRPEVKILND LNMVIKPGEM
460 470 480 490 500
TALVGPSGAG KSTALQLIQR FYDPCEGMVT VDGHDIRSLN IQWLRDQIGI
510 520 530 540 550
VEQEPVLFST TIAENIRYGR EDATMEDIVQ AAKEANAYNF IMDLPQQFDT
560 570 580 590 600
LVGEGGGQMS GGQKQRVAIA RALIRNPKIL LLDMATSALD NESEAMVQEV
610 620 630 640 650
LSKIQHGHTI ISVAHRLSTV RAADTIIGFE HGTAVERGTH EELLERKGVY
660 670 680 690 700
FTLVTLQSQG NQALNEEDIK DATEDDMLAR TFSRGSYQDS LRASIRQRSK
710 720 730 740 750
SQLSYLVHEP PLAVVDHKST YEEDRKDKDI PVQEEVEPAP VRRILKFSAP
760 770 780 790 800
EWPYMLVGSV GAAVNGTVTP LYAFLFSQIL GTFSIPDKEE QRSQINGVCL
810 820 830 840 850
LFVAMGCVSL FTQFLQGYAF AKSGELLTKR LRKFGFRAML GQDIAWFDDL
860 870 880 890 900
RNSPGALTTR LATDASQVQG AAGSQIGMIV NSFTNVTVAM IIAFSFSWKL
910 920 930 940 950
SLVILCFFPF LALSGATQTR MLTGFASRDK QALEMVGQIT NEALSNIRTV
960 970 980 990 1000
AGIGKERRFI EALETELEKP FKTAIQKANI YGFCFAFAQC IMFIANSASY
1010 1020 1030 1040 1050
RYGGYLISNE GLHFSYVFRV ISAVVLSATA LGRAFSYTPS YAKAKISAAR
1060 1070 1080 1090 1100
FFQLLDRQPP ISVYNTAGEK WDNFQGKIDF VDCKFTYPSR PDSQVLNGLS
1110 1120 1130 1140 1150
VSISPGQTLA FVGSSGCGKS TSIQLLERFY DPDQGKVMID GHDSKKVNVQ
1160 1170 1180 1190 1200
FLRSNIGIVS QEPVLFACSI MDNIKYGDNT KEIPMERVIA AAKQAQLHDF
1210 1220 1230 1240 1250
VMSLPEKYET NVGSQGSQLS RGEKQRIAIA RAIVRDPKIL LLDEATSALD
1260 1270 1280 1290 1300
TESEKTVQVA LDKAREGRTC IVIAHRLSTI QNADIIAVMA QGVVIEKGTH
1310 1320
EELMAQKGAY YKLVTTGSPI S
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi114199. 5 interactions.
IntActiO95342. 2 interactions.
MINTiMINT-5003953.
STRINGi9606.ENSP00000263817.

Chemistry

BindingDBiO95342.
ChEMBLiCHEMBL6020.
DrugBankiDB00171. Adenosine triphosphate.
DB00559. Bosentan.
DB00477. Chlorpromazine.
DB02659. Cholic Acid.
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

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

PTM databases

PhosphoSiteiO95342.

Polymorphism and mutation databases

BioMutaiABCB11.

Proteomic databases

MaxQBiO95342.
PaxDbiO95342.
PRIDEiO95342.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi8647.
GeneCardsiGC02M169743.
GeneReviewsiABCB11.
H-InvDBHIX0029772.
HGNCiHGNC:42. ABCB11.
HPAiHPA019035.
MIMi601847. phenotype.
603201. gene.
605479. phenotype.
neXtProtiNX_O95342.
Orphaneti99961. Benign recurrent intrahepatic cholestasis type 2.
69665. Intrahepatic cholestasis of pregnancy.
79304. Progressive familial intrahepatic cholestasis type 2.
PharmGKBiPA374.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1132.
GeneTreeiENSGT00530000062896.
HOVERGENiHBG080809.
InParanoidiO95342.
KOiK05664.
OMAiCAFLHGI.
PhylomeDBiO95342.
TreeFamiTF105193.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiABCB11. human.
GeneWikiiABCB11.
GenomeRNAii8647.
NextBioi32419.
PROiO95342.
SOURCEiSearch...

Gene expression databases

BgeeiO95342.
CleanExiHS_ABCB11.
ExpressionAtlasiO95342. baseline and differential.
GenevisibleiO95342. HS.

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.
IPR030278. BSEP.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR24221:SF165. PTHR24221:SF165. 1 hit.
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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-586; SER-587; SER-704 AND SER-1214, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  6. Cited for: VARIANTS PFIC2 VAL-238 AND SER-336.
  7. "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.
  8. "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.
  9. Cited for: VARIANTS BRIC2 GLY-186; GLY-297; THR-570; PRO-923; PRO-926; CYS-1050 AND HIS-1128.
  10. "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.
  11. "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.
  12. "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.
  13. "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.
  14. "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: July 22, 2015
This is version 147 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.