UniProtKB - O95342 (ABCBB_HUMAN)
Protein
Bile salt export pump
Gene
ABCB11
Organism
Homo sapiens (Human)
Status
Functioni
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 to hepatic bile acids homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:16332456, PubMed:22262466, PubMed:15791618, PubMed:18985798, PubMed:19228692, PubMed:20398791, PubMed:24711118, PubMed:29507376, PubMed:20010382, 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).12 Publications
Catalytic activityi
- This reaction proceeds in the forward1 Publication direction.
- ATP + glycochenodeoxycholate(in) + H2O = ADP + glycochenodeoxycholate(out) + H+ + phosphate1 PublicationThis reaction proceeds in the forward1 Publication direction.
- ATP + H2O + taurochenodeoxycholate(in) = ADP + H+ + phosphate + taurochenodeoxycholate(out)1 PublicationThis reaction proceeds in the forward1 Publication direction.
- ATP + glycoursodeoxycholate(in) + H2O = ADP + glycoursodeoxycholate(out) + H+ + phosphate1 PublicationThis reaction proceeds in the forward1 Publication direction.
- ATP + H2O + tauroursodeoxycholate(in) = ADP + H+ + phosphate + tauroursodeoxycholate(out)2 Publications
- This reaction proceeds in the forward1 Publication direction.
- ATP + H2O + taurolithocholate sulfate(in) = ADP + H+ + phosphate + taurolithocholate sulfate(out)1 PublicationThis reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
Activity regulationi
The uptake of taurocholate is inhibited by taurolithocholate sulfate with an IC50 of 9 µM (PubMed:16332456). Pravastatin competitively inhibits the transport of taurocholic acid (PubMed:18985798, PubMed:15901796). 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).7 Publications
Kineticsi
- KM=30.4 µM for taurocholate1 Publication
- KM=6.2 µM for taurocholate1 Publication
- KM=21.7 µM for glycocholate1 Publication
- KM=6.6 µM for taurochenodeoxycholate1 Publication
- KM=7.5 µM for glycochenodeoxycholate1 Publication
- KM=9.5 µM for taurolithocholate sulfate1 Publication
- KM=4.61 µM for taurocholate1 Publication
- KM=4.64 µM for taurocholate1 Publication
- KM=124 µM for pravastatin1 Publication
- KM=19.9 µM for taurocholate1 Publication
- Vmax=232 pmol/min/mg enzyme for taurocholate transport1 Publication
- Vmax=2510 pmol/min/mg enzyme for taurocholate transport1 Publication
- Vmax=2310 pmol/min/mg enzyme for taurocholate transport1 Publication
- Vmax=4290 pmol/min/mg enzyme for taurocholate transport1 Publication
- Vmax=1220 pmol/min/mg enzyme for pravastatin transport1 Publication
- Vmax=98.5 pmol/min/mg enzyme for taurocholate transport1 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 455 – 462 | ATP 1PROSITE-ProRule annotation | 8 | |
Nucleotide bindingi | 1113 – 1120 | ATP 2PROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase activity Source: InterPro
- ATPase-coupled bile acid transmembrane transporter activity Source: UniProtKB
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATPase-coupled xenobiotic transmembrane transporter activity Source: UniProtKB
- ATP binding Source: ProtInc
- bile acid transmembrane transporter activity Source: UniProtKB
- canalicular bile acid transmembrane transporter activity Source: UniProtKB
- sodium transmembrane transporter activity, phosphorylative mechanism Source: ProtInc
- transporter activity Source: ProtInc
GO - Biological processi
- bile acid and bile salt transport Source: UniProtKB
- bile acid biosynthetic process Source: Reactome
- bile acid metabolic process Source: UniProtKB
- canalicular bile acid transport Source: UniProtKB
- cholesterol homeostasis Source: UniProtKB
- drug export Source: UniProtKB
- drug metabolic process Source: UniProtKB
- drug transmembrane transport Source: UniProtKB
- fatty acid metabolic process Source: UniProtKB
- lipid homeostasis Source: UniProtKB
- phospholipid homeostasis Source: UniProtKB
- positive regulation of bile acid secretion Source: UniProtKB
- protein ubiquitination Source: UniProtKB
- regulation of bile acid metabolic process Source: UniProtKB
- regulation of fatty acid beta-oxidation Source: UniProtKB
- transmembrane transport Source: GO_Central
Keywordsi
Molecular function | Translocase |
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O95342 |
Reactomei | R-HSA-159418, Recycling of bile acids and salts R-HSA-193368, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-5678520, Defective ABCB11 causes PFIC2 and BRIC2 |
Protein family/group databases
TCDBi | 3.A.1.201.2, the atp-binding cassette (abc) superfamily |
Chemistry databases
SwissLipidsi | SLP:000001597 |
Names & Taxonomyi
Protein namesi | Recommended name: Bile salt export pump1 Publication (EC:7.6.2.-3 Publications)Alternative name(s): ATP-binding cassette sub-family B member 11 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:42, ABCB11 |
MIMi | 603201, gene |
neXtProti | NX_O95342 |
VEuPathDBi | HostDB:ENSG00000073734.8 |
Subcellular locationi
Endosome
- Recycling endosome membrane By similarity; Multi-pass membrane protein By similarity
- Endosome By similarity
Plasma membrane
- Apical cell membrane 2 Publications; Multi-pass membrane protein Sequence analysis
- Cell membrane 4 Publications; Multi-pass membrane protein Sequence analysis
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).By similarity2 Publications
Endosome
- endosome Source: UniProtKB
- recycling endosome Source: UniProtKB
- recycling endosome membrane Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- integral component of plasma membrane Source: ProtInc
- intracellular canaliculus Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- cell surface Source: UniProtKB
- intercellular canaliculus Source: Ensembl
- membrane Source: ProtInc
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 62 | CytoplasmicSequence analysisAdd BLAST | 62 | |
Transmembranei | 63 – 83 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 84 – 147 | ExtracellularSequence analysisAdd BLAST | 64 | |
Transmembranei | 148 – 168 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 169 – 215 | CytoplasmicSequence analysisAdd BLAST | 47 | |
Transmembranei | 216 – 236 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 237 – 240 | ExtracellularSequence analysis | 4 | |
Transmembranei | 241 – 261 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 262 – 319 | CytoplasmicSequence analysisAdd BLAST | 58 | |
Transmembranei | 320 – 340 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 341 – 353 | ExtracellularSequence analysisAdd BLAST | 13 | |
Transmembranei | 354 – 374 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 375 – 755 | CytoplasmicSequence analysisAdd BLAST | 381 | |
Transmembranei | 756 – 776 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 777 – 794 | ExtracellularSequence analysisAdd BLAST | 18 | |
Transmembranei | 795 – 815 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 816 – 869 | CytoplasmicSequence analysisAdd BLAST | 54 | |
Transmembranei | 870 – 890 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Transmembranei | 891 – 911 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 912 – 979 | CytoplasmicSequence analysisAdd BLAST | 68 | |
Transmembranei | 980 – 1000 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 1001 – 1011 | ExtracellularSequence analysisAdd BLAST | 11 | |
Transmembranei | 1012 – 1032 | HelicalPROSITE-ProRule annotationAdd BLAST | 21 | |
Topological domaini | 1033 – 1321 | CytoplasmicSequence analysisAdd BLAST | 289 |
Keywords - Cellular componenti
Cell membrane, Endosome, MembranePathology & Biotechi
Involvement in diseasei
Cholestasis, progressive familial intrahepatic, 2 (PFIC2)8 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083783 | 129 | C → Y in PFIC2; loss of cell membrane localization; significantly reduces taurocholate transport activity. 1 Publication | 1 | |
Natural variantiVAR_030388 | 238 | G → V in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551306Ensembl. | 1 | |
Natural variantiVAR_013332 | 284 | V → L in PFIC2. 1 Publication | 1 | |
Natural variantiVAR_010271 | 297 | E → G in PFIC2 and BRIC2; reduces transport capacity for taurocholate; decreases protein expression; affects maturation of protein in the reticulum endoplasmic; does not affect apical membrane localization; does not affect cell surface expression of the mature form; does not affect transport of taurocholate and glycocholate; enhances ubiquitination susceptibility; reduces transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment; does not affect protein expression; does not affect cell membrane localization. 7 PublicationsCorresponds to variant dbSNP:rs11568372EnsemblClinVar. | 1 | |
Natural variantiVAR_030390 | 336 | C → S in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551305Ensembl. | 1 | |
Natural variantiVAR_073967 | 337 | Y → H in PFIC2; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_013334 | 461 | K → E in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs1274558905Ensembl. | 1 | |
Natural variantiVAR_073968 | 472 | Y → C in PFIC2; compound heterozygous with V-1131. 1 PublicationCorresponds to variant dbSNP:rs369860506Ensembl. | 1 | |
Natural variantiVAR_013335 | 482 | D → G in PFIC2; decreases protein expression; affects maturation of protein in the reticulum endoplasmic; decreases apical membrane localization; affects cell surface expression; does not affect transport of taurocholate and glycocholate; enhances ubiquitination susceptibility. 3 PublicationsCorresponds to variant dbSNP:rs72549402EnsemblClinVar. | 1 | |
Natural variantiVAR_073969 | 696 | R → W in PFIC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376216286Ensembl. | 1 | |
Natural variantiVAR_073970 | 931 | Q → P in PFIC2; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_013336 | 982 | G → R in PFIC2; impairs taurocholate transport activity; significantly reduces protein expression; decreases cell surface protein expression; loss of ell membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs72549399EnsemblClinVar. | 1 | |
Natural variantiVAR_013337 | 1004 | G → D in PFIC2. 1 Publication | 1 | |
Natural variantiVAR_073971 | 1131 | D → V in PFIC2; compound heterozygous with C-472. 1 Publication | 1 | |
Natural variantiVAR_013338 | 1153 | R → C in PFIC2; impairs taurocholate transport activity; significantly reduces protein expression; decreases cell surface protein expression; loss of ell membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs72549395EnsemblClinVar. | 1 | |
Natural variantiVAR_073972 | 1198 | H → R in PFIC2; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_013339 | 1268 | R → Q in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549394Ensembl. | 1 |
Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)3 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030386 | 186 | E → G in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72551307Ensembl. | 1 | |
Natural variantiVAR_010271 | 297 | E → G in PFIC2 and BRIC2; reduces transport capacity for taurocholate; decreases protein expression; affects maturation of protein in the reticulum endoplasmic; does not affect apical membrane localization; does not affect cell surface expression of the mature form; does not affect transport of taurocholate and glycocholate; enhances ubiquitination susceptibility; reduces transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment; does not affect protein expression; does not affect cell membrane localization. 7 PublicationsCorresponds to variant dbSNP:rs11568372EnsemblClinVar. | 1 | |
Natural variantiVAR_030391 | 432 | R → T in BRIC2; reduced transport capacity for taurocholate; reduces transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment. 2 PublicationsCorresponds to variant dbSNP:rs121908935EnsemblClinVar. | 1 | |
Natural variantiVAR_030392 | 570 | A → T in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs886043807EnsemblClinVar. | 1 | |
Natural variantiVAR_030394 | 923 | T → P in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs777469571Ensembl. | 1 | |
Natural variantiVAR_030395 | 926 | A → P in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72549400Ensembl. | 1 | |
Natural variantiVAR_030396 | 1050 | R → C in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72549398EnsemblClinVar. | 1 | |
Natural variantiVAR_030397 | 1128 | R → H in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs756220860EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1 – 441 | Missing : Does not affect ATPase-coupled bile acid transport activity. Decreases protein stability. 1 PublicationAdd BLAST | 441 | |
Mutagenesisi | 1311 | Y → A: Loss of interaction with AP2A1 and AP2A2. Promotes ABCB11 plasma membrane trafficking. Does not affect plasma membrane localization. Inhibits ABCB11 internalization. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Intrahepatic cholestasisOrganism-specific databases
DisGeNETi | 8647 |
MalaCardsi | ABCB11 |
MIMi | 601847, phenotype 605479, phenotype |
OpenTargetsi | ENSG00000073734 |
Orphaneti | 99961, Benign recurrent intrahepatic cholestasis type 2 69665, Intrahepatic cholestasis of pregnancy 79304, Progressive familial intrahepatic cholestasis type 2 |
PharmGKBi | PA374 |
Miscellaneous databases
Pharosi | O95342, Tchem |
Chemistry databases
ChEMBLi | CHEMBL6020 |
DrugBanki | DB01118, Amiodarone DB00637, Astemizole DB01072, Atazanavir DB00335, Atenolol DB01076, Atorvastatin DB00171, ATP DB00572, Atropine DB12319, Benzbromarone DB00559, Bosentan DB01222, Budesonide DB00833, Cefaclor DB00482, Celecoxib DB00439, Cerivastatin DB00477, Chlorpromazine DB02659, Cholic Acid DB00501, Cimetidine DB01211, Clarithromycin DB00257, Clotrimazole DB00091, Cyclosporine DB00694, Daunorubicin DB03619, Deoxycholic acid DB01234, Dexamethasone DB14649, Dexamethasone acetate DB00586, Diclofenac DB00255, Diethylstilbestrol DB00390, Digoxin DB13345, Dihydroergocristine DB00975, Dipyridamole DB00822, Disulfiram DB00997, Doxorubicin DB00625, Efavirenz DB00199, Erythromycin DB00977, Ethinylestradiol DB00973, Ezetimibe DB01023, Felodipine DB01039, Fenofibrate DB00301, Flucloxacillin DB00693, Fluorescein DB00176, Fluvoxamine DB02703, Fusidic acid DB00222, Glimepiride DB01067, Glipizide DB01016, Glyburide DB02123, Glycochenodeoxycholic Acid DB13751, Glycyrrhizic acid DB00619, Imatinib DB00224, Indinavir DB09374, Indocyanine green acid form DB00328, Indomethacin DB00270, Isradipine DB01026, Ketoconazole DB09078, Lenvatinib DB12070, Letermovir DB01601, Lopinavir DB00455, Loratadine DB00678, Losartan DB00227, Lovastatin DB00834, Mifepristone DB00788, Naproxen DB01149, Nefazodone DB00220, Nelfinavir DB00622, Nicardipine DB01115, Nifedipine DB01054, Nitrendipine DB00698, Nitrofurantoin DB05990, Obeticholic acid DB01165, Ofloxacin DB00275, Olmesartan DB01229, Paclitaxel DB01174, Phenobarbital DB12712, Pilsicainide DB08860, Pitavastatin DB05804, Prasterone sulfate DB00175, Pravastatin DB00396, Progesterone DB00908, Quinidine DB00243, Ranolazine DB14761, Remdesivir DB00912, Repaglinide DB00206, Reserpine DB01045, Rifampicin DB00503, Ritonavir DB00412, Rosiglitazone DB01098, Rosuvastatin DB01232, Saquinavir DB06290, Simeprevir DB00641, Simvastatin DB00421, Spironolactone DB01015, Sulfamethoxazole DB01138, Sulfinpyrazone DB00675, Tamoxifen DB04348, Taurocholic acid DB00966, Telmisartan DB00342, Terfenadine DB00911, Tinidazole DB00932, Tipranavir DB00197, Troglitazone DB01586, Ursodeoxycholic acid DB14057, Valinomycin DB00570, Vinblastine DB00541, Vincristine |
DrugCentrali | O95342 |
GuidetoPHARMACOLOGYi | 778 |
Genetic variation databases
BioMutai | ABCB11 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000093296 | 1 – 1321 | Bile salt export pumpAdd BLAST | 1321 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 109 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 116 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 122 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 125 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 586 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 587 | PhosphoserineCombined sources | 1 | |
Modified residuei | 690 | PhosphoserineBy similarity | 1 | |
Modified residuei | 701 | PhosphoserineBy similarity | 1 | |
Modified residuei | 704 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1214 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1321 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
N-glycosylated.2 Publications
Ubiquitinated; short-chain ubiquitination regulates cell-Surface expression of ABCB11.1 Publication
Keywords - PTMi
Glycoprotein, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | O95342 |
jPOSTi | O95342 |
MassIVEi | O95342 |
MaxQBi | O95342 |
PaxDbi | O95342 |
PeptideAtlasi | O95342 |
PRIDEi | O95342 |
ProteomicsDBi | 50810 |
PTM databases
GlyGeni | O95342, 4 sites |
iPTMneti | O95342 |
PhosphoSitePlusi | O95342 |
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
Bgeei | ENSG00000073734, Expressed in liver and 59 other tissues |
ExpressionAtlasi | O95342, baseline and differential |
Genevisiblei | O95342, HS |
Organism-specific databases
HPAi | ENSG00000073734, Tissue enriched (liver) |
Interactioni
Subunit structurei
Interacts with HAX1 (By similarity).
Interacts with the adapter protein complex 2 (AP-2) throught AP2A2 or AP2A1; this interaction regulates cell membrane expresion of ABCB11 through its internalization in a clathrin-dependent manner and its subsequent degradation (PubMed:22262466).
By similarity1 PublicationBinary interactionsi
O95342
With | #Exp. | IntAct |
---|---|---|
DDIT4L [Q96D03] | 3 | EBI-3914067,EBI-742054 |
Protein-protein interaction databases
BioGRIDi | 114199, 7 interactors |
IntActi | O95342, 4 interactors |
STRINGi | 9606.ENSP00000263817 |
Chemistry databases
BindingDBi | O95342 |
Miscellaneous databases
RNActi | O95342, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O95342 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 62 – 385 | ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST | 324 | |
Domaini | 420 – 656 | ABC transporter 1PROSITE-ProRule annotationAdd BLAST | 237 | |
Domaini | 755 – 1043 | ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST | 289 | |
Domaini | 1078 – 1316 | ABC transporter 2PROSITE-ProRule annotationAdd BLAST | 239 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 651 – 672 | Interaction with HAX1By similarityAdd BLAST | 22 | |
Regioni | 1311 – 1314 | Mediates internalization from the plasma membrane1 Publication | 4 |
Domaini
Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
Sequence similaritiesi
Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. [View classification]Curated
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0055, Eukaryota |
GeneTreei | ENSGT00940000157564 |
HOGENOMi | CLU_000604_17_2_1 |
InParanoidi | O95342 |
OMAi | LFMLPMT |
OrthoDBi | 186078at2759 |
PhylomeDBi | O95342 |
TreeFami | TF105193 |
Family and domain databases
Gene3Di | 1.20.1560.10, 2 hits |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR011527, ABC1_TM_dom IPR036640, ABC1_TM_sf IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR030278, BSEP IPR027417, P-loop_NTPase IPR039421, Type_I_exporter |
PANTHERi | PTHR24221, PTHR24221, 1 hit PTHR24221:SF165, PTHR24221:SF165, 1 hit |
Pfami | View protein in Pfam PF00664, ABC_membrane, 2 hits PF00005, ABC_tran, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits SSF90123, SSF90123, 2 hits |
PROSITEi | View protein in PROSITE PS50929, ABC_TM1F, 2 hits PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 2 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All
O95342-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3IS78 | A0A3B3IS78_HUMAN | Bile salt export pump | ABCB11 | 780 | Annotation score: | ||
Q53S60 | Q53S60_HUMAN | Bile salt export pump | ABCB11 | 451 | Annotation score: | ||
A0A3B3ISD4 | A0A3B3ISD4_HUMAN | Bile salt export pump | ABCB11 | 101 | Annotation score: | ||
H7C486 | H7C486_HUMAN | Bile salt export pump | ABCB11 | 72 | Annotation score: | ||
A0A3B3ITV9 | A0A3B3ITV9_HUMAN | Bile salt export pump | ABCB11 | 81 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 339 | L → V in AAC77455 (PubMed:9806540).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_055472 | 56 | S → L Does not affect taurocholate transport activity; does not affect cell surface protein expression. 1 PublicationCorresponds to variant dbSNP:rs11568361EnsemblClinVar. | 1 | |
Natural variantiVAR_083783 | 129 | C → Y in PFIC2; loss of cell membrane localization; significantly reduces taurocholate transport activity. 1 Publication | 1 | |
Natural variantiVAR_030386 | 186 | E → G in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72551307Ensembl. | 1 | |
Natural variantiVAR_030387 | 206 | I → V Impairs taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression; does not affect cell membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs11568357EnsemblClinVar. | 1 | |
Natural variantiVAR_030388 | 238 | G → V in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551306Ensembl. | 1 | |
Natural variantiVAR_035349 | 284 | V → A2 PublicationsCorresponds to variant dbSNP:rs200739891EnsemblClinVar. | 1 | |
Natural variantiVAR_013332 | 284 | V → L in PFIC2. 1 Publication | 1 | |
Natural variantiVAR_010271 | 297 | E → G in PFIC2 and BRIC2; reduces transport capacity for taurocholate; decreases protein expression; affects maturation of protein in the reticulum endoplasmic; does not affect apical membrane localization; does not affect cell surface expression of the mature form; does not affect transport of taurocholate and glycocholate; enhances ubiquitination susceptibility; reduces transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment; does not affect protein expression; does not affect cell membrane localization. 7 PublicationsCorresponds to variant dbSNP:rs11568372EnsemblClinVar. | 1 | |
Natural variantiVAR_030389 | 299 | R → K2 PublicationsCorresponds to variant dbSNP:rs2287617EnsemblClinVar. | 1 | |
Natural variantiVAR_030390 | 336 | C → S in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551305Ensembl. | 1 | |
Natural variantiVAR_073967 | 337 | Y → H in PFIC2; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_043074 | 415 | R → Q1 PublicationCorresponds to variant dbSNP:rs371656014EnsemblClinVar. | 1 | |
Natural variantiVAR_030391 | 432 | R → T in BRIC2; reduced transport capacity for taurocholate; reduces transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment. 2 PublicationsCorresponds to variant dbSNP:rs121908935EnsemblClinVar. | 1 | |
Natural variantiVAR_013333 | 444 | V → A More frequent in patients with drug-induced cholestasis than healthy controls; associated with lower hepatic expression; does not affect transport capacity for taurocholate; increases transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment; does not affect cell surface protein expression; does not affect protein expression. 10 PublicationsCorresponds to variant dbSNP:rs2287622EnsemblClinVar. | 1 | |
Natural variantiVAR_059106 | 444 | V → D. Corresponds to variant dbSNP:rs2287622EnsemblClinVar. | 1 | |
Natural variantiVAR_059107 | 444 | V → G. Corresponds to variant dbSNP:rs2287622EnsemblClinVar. | 1 | |
Natural variantiVAR_013334 | 461 | K → E in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs1274558905Ensembl. | 1 | |
Natural variantiVAR_073968 | 472 | Y → C in PFIC2; compound heterozygous with V-1131. 1 PublicationCorresponds to variant dbSNP:rs369860506Ensembl. | 1 | |
Natural variantiVAR_013335 | 482 | D → G in PFIC2; decreases protein expression; affects maturation of protein in the reticulum endoplasmic; decreases apical membrane localization; affects cell surface expression; does not affect transport of taurocholate and glycocholate; enhances ubiquitination susceptibility. 3 PublicationsCorresponds to variant dbSNP:rs72549402EnsemblClinVar. | 1 | |
Natural variantiVAR_083784 | 558 | Q → H Impairs taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression; does not affect cell membrane localization. 1 PublicationCorresponds to variant dbSNP:rs11568369Ensembl. | 1 | |
Natural variantiVAR_030392 | 570 | A → T in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs886043807EnsemblClinVar. | 1 | |
Natural variantiVAR_043075 | 591 | N → S in a patient with intrahepatic cholestasis of pregnancy; impairs taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression; does not affect cell membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs11568367EnsemblClinVar. | 1 | |
Natural variantiVAR_083785 | 592 | E → Q Does not affect taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression. 1 PublicationCorresponds to variant dbSNP:rs11568370EnsemblClinVar. | 1 | |
Natural variantiVAR_035350 | 616 | R → G1 Publication |