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UniProtKB - O95342 (ABCBB_HUMAN)

Entry version 193 (02 Jun 2021)
Sequence version 2 (03 Nov 2009)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

More...PathwayCommonsi		O95342

Reactome - a knowledgebase of biological pathways and processes

More...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

Transport Classification Database

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

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Human Gene Nomenclature Database

More...HGNCi		HGNC:42, ABCB11

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603201, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95342

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000073734.8

<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

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 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 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. 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. 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 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 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 variant, Intrahepatic cholestasis

Organism-specific databases

DisGeNET

More...DisGeNETi		8647

MalaCards human disease database

More...MalaCardsi		ABCB11
MIMi601847, phenotype
605479, phenotype

Open Targets

More...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

More...PharmGKBi		PA374

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O95342, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL6020

Drug and drug target database

More...DrugBanki		DB01118, Amiodarone
DB00637, Astemizole
DB01072, Atazanavir
DB00335, Atenolol
DB01076, Atorvastatin
DB00171, ATP
DB00572, Atropine
DB15719, Belantamab mafodotin
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
DB15822, Pralsetinib
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

DrugCentral

More...DrugCentrali		O95342

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		778

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...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

More...EPDi		O95342

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O95342

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O95342

MaxQB - The MaxQuant DataBase

More...MaxQBi		O95342

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

More...PaxDbi		O95342

PeptideAtlas

More...PeptideAtlasi		O95342

PRoteomics IDEntifications database

More...PRIDEi		O95342

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		50810

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O95342, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95342

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

More...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

More...Bgeei		ENSG00000073734, Expressed in liver and 60 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95342, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95342, HS

Organism-specific databases

Human Protein Atlas

More...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)

More...BioGRIDi		114199, 7 interactors

Protein interaction database and analysis system

More...IntActi		O95342, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000263817

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		O95342

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...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

More...SMRi		O95342

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...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>Regioni16 – 37DisorderedSequence analysisAdd BLAST22
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

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 helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0055, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157564

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000604_17_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95342

Identification of Orthologs from Complete Genome Data

More...OMAi		LFMLPMT

Database of Orthologous Groups

More...OrthoDBi		186078at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95342

TreeFam database of animal gene trees

More...TreeFami		TF105193

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1560.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...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_1_exporter

The PANTHER Classification System

More...PANTHERi		PTHR24221, PTHR24221, 1 hit
PTHR24221:SF165, PTHR24221:SF165, 1 hit

Pfam protein domain database

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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00382, AAA, 2 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540, SSF52540, 2 hits
SSF90123, SSF90123, 2 hits

PROSITE; a protein domain and family database

More...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:3 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:3 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 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 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 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. 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 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_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 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_035350616R → G1 Publication1
Natural variantiVAR_035351619T → A1 PublicationCorresponds to variant dbSNP:rs912519986Ensembl.1
Natural variantiVAR_043076676D → Y in fluvastatin-induced cholestasis; does not affect transport capacity for taurocholate. 1 Publication1
Natural variantiVAR_030393677M → V Does not affect taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression. 5 PublicationsCorresponds to variant dbSNP:rs11568364EnsemblClinVar.1
Natural variantiVAR_073969696R → W in PFIC2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs376216286Ensembl.1
Natural variantiVAR_035352698R → H2 PublicationsCorresponds to variant dbSNP:rs138642043EnsemblClinVar.1
Natural variantiVAR_043077855G → R in ethinylestradiol/gestodene-induced cholestasis; loss of transport capacity for taurocholate. 1 Publication1
Natural variantiVAR_035353865A → V Might be associated with increased risk of intrahepatic stones; decreases protein expression; deacreases localization to the cell membrane; decreases the trafficking to the plasma membrane. 3 PublicationsCorresponds to variant dbSNP:rs118109635EnsemblClinVar.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_073970931Q → P in PFIC2; unknown pathological significance. 1 Publication1
Natural variantiVAR_035354958R → Q1 PublicationCorresponds to variant dbSNP:rs761363245Ensembl.1
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:rs72549399