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Entry version 189 (07 Oct 2020)
Sequence version 2 (03 Nov 2009)
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Protein

Bile salt export pump

Gene

ABCB11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>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

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=30.4 µM for taurocholate1 Publication
  2. KM=6.2 µM for taurocholate1 Publication
  3. KM=21.7 µM for glycocholate1 Publication
  4. KM=6.6 µM for taurochenodeoxycholate1 Publication
  5. KM=7.5 µM for glycochenodeoxycholate1 Publication
  6. KM=9.5 µM for taurolithocholate sulfate1 Publication
  7. KM=4.61 µM for taurocholate1 Publication
  8. KM=4.64 µM for taurocholate1 Publication
  9. KM=124 µM for pravastatin1 Publication
  10. KM=19.9 µM for taurocholate1 Publication
  1. Vmax=232 pmol/min/mg enzyme for taurocholate transport1 Publication
  2. Vmax=2510 pmol/min/mg enzyme for taurocholate transport1 Publication
  3. Vmax=2310 pmol/min/mg enzyme for taurocholate transport1 Publication
  4. Vmax=4290 pmol/min/mg enzyme for taurocholate transport1 Publication
  5. Vmax=1220 pmol/min/mg enzyme for pravastatin transport1 Publication
  6. Vmax=98.5 pmol/min/mg enzyme for taurocholate transport1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi455 – 462ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1113 – 1120ATP 2PROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTranslocase
Biological processTransport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
O95342

Reactome - a knowledgebase of biological pathways and processes

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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 progressive familial intrahepatic cholestasis 2 and benign recurrent intrahepatic cholestasis 2

Protein family/group databases

Transport Classification Database

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

Chemistry databases

SwissLipids knowledge resource for lipid biology

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SwissLipidsi
SLP:000001597

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCB11Imported
Synonyms:BSEP1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000073734.8

Human Gene Nomenclature Database

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HGNCi
HGNC:42, ABCB11

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603201, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O95342

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 62CytoplasmicSequence analysisAdd BLAST62
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei63 – 83HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini84 – 147ExtracellularSequence analysisAdd BLAST64
Transmembranei148 – 168HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini169 – 215CytoplasmicSequence analysisAdd BLAST47
Transmembranei216 – 236HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini237 – 240ExtracellularSequence analysis4
Transmembranei241 – 261HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini262 – 319CytoplasmicSequence analysisAdd BLAST58
Transmembranei320 – 340HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini341 – 353ExtracellularSequence analysisAdd BLAST13
Transmembranei354 – 374HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini375 – 755CytoplasmicSequence analysisAdd BLAST381
Transmembranei756 – 776HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini777 – 794ExtracellularSequence analysisAdd BLAST18
Transmembranei795 – 815HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini816 – 869CytoplasmicSequence analysisAdd BLAST54
Transmembranei870 – 890HelicalPROSITE-ProRule annotationAdd BLAST21
Transmembranei891 – 911HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini912 – 979CytoplasmicSequence analysisAdd BLAST68
Transmembranei980 – 1000HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini1001 – 1011ExtracellularSequence analysisAdd BLAST11
Transmembranei1012 – 1032HelicalPROSITE-ProRule annotationAdd BLAST21
Topological domaini1033 – 1321CytoplasmicSequence analysisAdd BLAST289

Keywords - Cellular componenti

Cell membrane, Endosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cholestasis, progressive familial intrahepatic, 2 (PFIC2)8 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083783129C → Y in PFIC2; loss of cell membrane localization; significantly reduces taurocholate transport activity. 1 Publication1
Natural variantiVAR_030388238G → V in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551306Ensembl.1
Natural variantiVAR_013332284V → L in PFIC2. 1 Publication1
Natural variantiVAR_010271297E → 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_030390336C → S in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551305Ensembl.1
Natural variantiVAR_073967337Y → H in PFIC2; unknown pathological significance. 1 Publication1
Natural variantiVAR_013334461K → E in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs1274558905Ensembl.1
Natural variantiVAR_073968472Y → C in PFIC2; compound heterozygous with V-1131. 1 PublicationCorresponds to variant dbSNP:rs369860506Ensembl.1
Natural variantiVAR_013335482D → 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_073969696R → W in PFIC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376216286Ensembl.1
Natural variantiVAR_073970931Q → P in PFIC2; unknown pathological significance. 1 Publication1
Natural variantiVAR_013336982G → 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_0133371004G → D in PFIC2. 1 Publication1
Natural variantiVAR_0739711131D → V in PFIC2; compound heterozygous with C-472. 1 Publication1
Natural variantiVAR_0133381153R → 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_0739721198H → R in PFIC2; unknown pathological significance. 1 Publication1
Natural variantiVAR_0133391268R → Q in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72549394Ensembl.1
Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)3 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030386186E → G in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72551307Ensembl.1
Natural variantiVAR_010271297E → 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_030391432R → 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_030392570A → T in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs886043807EnsemblClinVar.1
Natural variantiVAR_030394923T → P in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs777469571Ensembl.1
Natural variantiVAR_030395926A → P in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72549400Ensembl.1
Natural variantiVAR_0303961050R → C in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72549398EnsemblClinVar.1
Natural variantiVAR_0303971128R → H in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs756220860EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1 – 441Missing : Does not affect ATPase-coupled bile acid transport activity. Decreases protein stability. 1 PublicationAdd BLAST441
Mutagenesisi1311Y → A: Loss of interaction with AP2A1 and AP2A2. Promotes ABCB11 plasma membrane trafficking. Does not affect plasma membrane localization. Inhibits ABCB11 internalization. 1 Publication1

Keywords - Diseasei

Disease mutation, Intrahepatic cholestasis

Organism-specific databases

DisGeNET

More...
DisGeNETi
8647

MalaCards human disease database

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MalaCardsi
ABCB11
MIMi601847, phenotype
605479, phenotype

Open Targets

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OpenTargetsi
ENSG00000073734

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99961, Benign recurrent intrahepatic cholestasis type 2
69665, Intrahepatic cholestasis of pregnancy
79304, Progressive familial intrahepatic cholestasis type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA374

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
O95342, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL6020

Drug and drug target database

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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
DB00845, Clofazimine
DB00257, Clotrimazole
DB00091, Cyclosporine
DB00694, Daunorubicin
DB03619, Deoxycholic acid
DB01234, Dexamethasone
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
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

DrugCentral

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DrugCentrali
O95342

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
778

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ABCB11

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000932961 – 1321Bile salt export pumpAdd BLAST1321

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi109N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi116N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi122N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi125N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei586PhosphothreonineCombined sources1
Modified residuei587PhosphoserineCombined sources1
Modified residuei690PhosphoserineBy similarity1
Modified residuei701PhosphoserineBy similarity1
Modified residuei704PhosphoserineCombined sources1
Modified residuei1214PhosphoserineCombined sources1
Modified residuei1321PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.2 Publications
Ubiquitinated; short-chain ubiquitination regulates cell-Surface expression of ABCB11.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O95342

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O95342

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O95342

MaxQB - The MaxQuant DataBase

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MaxQBi
O95342

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O95342

PeptideAtlas

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PeptideAtlasi
O95342

PRoteomics IDEntifications database

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PRIDEi
O95342

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
50810

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

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GlyGeni
O95342, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O95342

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O95342

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000073734, Expressed in liver and 59 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O95342, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95342, HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000073734, Tissue enriched (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114199, 6 interactors

Protein interaction database and analysis system

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IntActi
O95342, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000263817

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
O95342

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
O95342, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11321
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O95342

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini62 – 385ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST324
Domaini420 – 656ABC transporter 1PROSITE-ProRule annotationAdd BLAST237
Domaini755 – 1043ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST289
Domaini1078 – 1316ABC transporter 2PROSITE-ProRule annotationAdd BLAST239

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni651 – 672Interaction with HAX1By similarityAdd BLAST22
Regioni1311 – 1314Mediates internalization from the plasma membrane1 Publication4

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0055, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000157564

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_000604_17_2_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95342

KEGG Orthology (KO)

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KOi
K05664

Identification of Orthologs from Complete Genome Data

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OMAi
LFMLPMT

Database of Orthologous Groups

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OrthoDBi
186078at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95342

TreeFam database of animal gene trees

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TreeFami
TF105193

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.1560.10, 2 hits

Integrated resource of protein families, domains and functional sites

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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

The PANTHER Classification System

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PANTHERi
PTHR24221, PTHR24221, 1 hit
PTHR24221:SF165, PTHR24221:SF165, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00664, ABC_membrane, 2 hits
PF00005, ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00382, AAA, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540, SSF52540, 2 hits
SSF90123, SSF90123, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50929, ABC_TM1F, 2 hits
PS00211, ABC_TRANSPORTER_1, 1 hit
PS50893, ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
« 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i61EE2173E2351D80
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IS78A0A3B3IS78_HUMAN
Bile salt export pump
ABCB11
780Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q53S60Q53S60_HUMAN
Bile salt export pump
ABCB11
451Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISD4A0A3B3ISD4_HUMAN
Bile salt export pump
ABCB11
101Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C486H7C486_HUMAN
Bile salt export pump
ABCB11
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITV9A0A3B3ITV9_HUMAN
Bile salt export pump
ABCB11
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti339L → V in AAC77455 (PubMed:9806540).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05547256S → L Rare polymorphism; does not affect taurocholate transport activity; does not affect cell surface protein expression. 1 PublicationCorresponds to variant dbSNP:rs11568361EnsemblClinVar.1
Natural variantiVAR_083783129C → Y in PFIC2; loss of cell membrane localization; significantly reduces taurocholate transport activity. 1 Publication1
Natural variantiVAR_030386186E → G in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs72551307Ensembl.1
Natural variantiVAR_030387206I → V Rare polymorphism; 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_030388238G → V in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551306Ensembl.1
Natural variantiVAR_035349284V → A2 PublicationsCorresponds to variant dbSNP:rs200739891EnsemblClinVar.1
Natural variantiVAR_013332284V → L in PFIC2. 1 Publication1
Natural variantiVAR_010271297E → 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_030389299R → K2 PublicationsCorresponds to variant dbSNP:rs2287617EnsemblClinVar.1
Natural variantiVAR_030390336C → S in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs72551305Ensembl.1
Natural variantiVAR_073967337Y → H in PFIC2; unknown pathological significance. 1 Publication1
Natural variantiVAR_043074415R → Q1 PublicationCorresponds to variant dbSNP:rs371656014EnsemblClinVar.1
Natural variantiVAR_030391432R → 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_013333444V → A Common polymorphism; 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_059106444V → D. Corresponds to variant dbSNP:rs2287622EnsemblClinVar.1
Natural variantiVAR_059107444V → G. Corresponds to variant dbSNP:rs2287622EnsemblClinVar.1
Natural variantiVAR_013334461K → E in PFIC2. 1 PublicationCorresponds to variant dbSNP:rs1274558905Ensembl.1
Natural variantiVAR_073968472Y → C in PFIC2; compound heterozygous with V-1131. 1 PublicationCorresponds to variant dbSNP:rs369860506Ensembl.1
Natural variantiVAR_013335482D → 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_083784558Q → H Rare polymorphism; impairs taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression; does not affect cell membrane localization. 1 Publication1
Natural variantiVAR_030392570A → T in BRIC2. 1 PublicationCorresponds to variant dbSNP:rs886043807EnsemblClinVar.1
Natural variantiVAR_043075591N → 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_083785592E → Q Rare polymorphism; does not affect taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression. 1 Publication