2844 lines
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2844 lines
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Entry
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- *605495 - SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B3; SLCO1B3
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- OMIM
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<p>
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<span class="h4">*605495</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605495">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000111700;t=ENST00000381545" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=28234" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=605495" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000111700;t=ENST00000381545" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001349920,NM_019844" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_019844" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=605495" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=12021&isoform_id=12021_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/SLCO1B3" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/9187497,9188300,9790233,12003092,27734563,32402659,33469246,41387888,47124240,111494040,116283671,119616819,119616820,119616821,193786307,1169640612" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9NPD5" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=28234" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000111700;t=ENST00000381545" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLCO1B3" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=SLCO1B3" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+28234" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/SLCO1B3" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:28234" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/28234" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr12&hgg_gene=ENST00000381545.8&hgg_start=20810705&hgg_end=20916911&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/slco1b3" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605495[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605495[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000111700" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SLCO1B3" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SLCO1B3" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SLCO1B3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SLCO1B3&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA35844" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:10961" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0034715.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1351899" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/SLCO1B3#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1351899" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/28234/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=000142,002755" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=28234" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00009023;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00009023 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00012531;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012531 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00018566;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00018566 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00018568;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00018568 </a></div>
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</div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:28234" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SLCO1B3&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
|
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605495
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B3; SLCO1B3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ORGANIC ANION TRANSPORTER 8; OATP8<br />
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ORGANIC ANION TRANSPORTER 1B3; OATP1B3<br />
|
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SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 8, FORMERLY; SLC21A8, FORMERLY
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
|
<span class="h3 mim-font">
|
|
SLCO1B3-SLCO1B7 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED; SLCO1B3-SLCO1B7, INCLUDED
|
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</span>
|
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</div>
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<div>
|
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<span class="h4 mim-font">
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|
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OATP1B3-1B7, INCLUDED
|
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</span>
|
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</div>
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SLCO1B3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SLCO1B3</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/12/219?start=-3&limit=10&highlight=219">12p12.2</a>
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|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:20810705-20916911&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">12:20,810,705-20,916,911</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/219?start=-3&limit=10&highlight=219">
|
|
12p12.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Hyperbilirubinemia, Rotor type, digenic
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/237450"> 237450 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Digenic recessive">DR</abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<p>SLCO1B3 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (<a href="#6" class="mim-tip-reference" title="Mikkaichi, T., Suzuki, T., Onogawa, T., Tanemoto, M., Mizutamari, H., Okada, M., Chaki, T., Masuda, S., Tokui, T., Eto, N., Abe, M., Satoh, F., Unno, M., Hishinuma, T., Inui, K., Ito, S., Goto, J., Abe, T. <strong>Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney.</strong> Proc. Nat. Acad. Sci. 101: 3569-3574, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14993604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14993604</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14993604[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0304987101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14993604">Mikkaichi et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14993604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>An SLCO1B3-SLCO1B7 (<a href="/entry/619875">619875</a>) spliced read-through transcript also appears to produce a functional OATP (<a href="#4" class="mim-tip-reference" title="Malagnino, V., Hussner, J., Seibert, I., Stolzenburg, A., Sager, C. P., Meyer zu Schwabedissen, H. E. <strong>LST-3TM12 is a member of the OATP1B family and a functional transporter.</strong> Biochem. Pharm. 148: 75-87, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29248594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29248594</a>] [<a href="https://doi.org/10.1016/j.bcp.2017.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29248594">Malagnino et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29248594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Based on sequence homology to human organic anion transporter-2 (OATP2) (SLCO1B1; <a href="/entry/604843">604843</a>), <a href="#1" class="mim-tip-reference" title="Konig, J., Cui, Y., Nies, A. T., Keppler, D. <strong>Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide.</strong> J. Biol. Chem. 275: 23161-23168, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10779507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10779507</a>] [<a href="https://doi.org/10.1074/jbc.M001448200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10779507">Konig et al. (2000)</a> cloned SLCO1B3, which they termed OATP8 (SLC21A8). The deduced 702-amino acid OATP8 protein shares 80% sequence identity with OATP2, a hepatic basolateral uptake transporter. Northern blot analysis revealed a liver-specific expression pattern similar to that of OATP2. An antibody raised against the C terminus localized OATP8 to the basolateral membrane of human hepatocytes and the recombinant glycoprotein, expressed in MDCKII cells, to the lateral membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10779507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>SLCO1B3-SLCO1B7 Read-Through Transcript</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Malagnino, V., Hussner, J., Seibert, I., Stolzenburg, A., Sager, C. P., Meyer zu Schwabedissen, H. E. <strong>LST-3TM12 is a member of the OATP1B family and a functional transporter.</strong> Biochem. Pharm. 148: 75-87, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29248594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29248594</a>] [<a href="https://doi.org/10.1016/j.bcp.2017.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29248594">Malagnino et al. (2018)</a> identified a human SLCO1B3-SLCO1B7 spliced read-through transcript, which they called LST-3TM12, in which the 5-prime part originated from SLCO1B3 and the remainder originated from SLCO1B7. The read-through transcript encodes an OATP with 12 transmembrane domains and a large fifth extracellular loop. RT-PCR analysis showed that SLCO1B3-SLCO1B7 was expressed in human liver and originated from hepatocytes. Immunostaining revealed that SLCO1B3-SLCO1B7 localized to multiple vesicular intracellular structures representing the endoplasmic reticulum (ER). Heterologous expression in HeLa cells confirmed ER localization and also showed localization in the plasma membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29248594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Western blot analysis, <a href="#2" class="mim-tip-reference" title="Malagnino, V., Duthaler, U., Seibert, I., Krahenbuhl, S., Meyer zu Schwabedissen, H. E. <strong>OATP1B3-1B7 (LST-3TM12) is a drug transporter that affects endoplasmic reticulum access and the metabolism of ezetimibe.</strong> Molec. Pharm. 96: 128-137, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31127008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31127008</a>] [<a href="https://doi.org/10.1124/mol.118.114934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31127008">Malagnino et al. (2019)</a> showed that the SLCO1B3-SLCO1B7 protein, which they called OATP1B3-1B7, was expressed in microsomes of human liver and small intestine and localized to smooth ER (SER). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31127008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Konig, J., Cui, Y., Nies, A. T., Keppler, D. <strong>Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide.</strong> J. Biol. Chem. 275: 23161-23168, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10779507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10779507</a>] [<a href="https://doi.org/10.1074/jbc.M001448200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10779507">Konig et al. (2000)</a> determined that the SLCO1B3 gene contains 14 exons, similar to the SLCO1A2 (<a href="/entry/602883">602883</a>) and SLCO1B1 genes. SLCO1B3 has 13 and 9 exons identical in length with those of SLCO1B1 and SLCO1A2, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10779507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Konig, J., Cui, Y., Nies, A. T., Keppler, D. <strong>Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide.</strong> J. Biol. Chem. 275: 23161-23168, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10779507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10779507</a>] [<a href="https://doi.org/10.1074/jbc.M001448200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10779507">Konig et al. (2000)</a> mapped the SLCO1B3 gene to chromosome 12p12 by identification of its sequence within a cosmid clone. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10779507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Meyer zu Schwabedissen, H. E., Seibert, I., Grube, M., Alter, C. L., Siegmund, W., Hussner, J. <strong>Genetic variants of SLCO1B7 are of relevance for the transport function of OATP1B3-1B7.</strong> Pharm. Res. 161: 105155, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32818652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32818652</a>] [<a href="https://doi.org/10.1016/j.phrs.2020.105155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32818652">Meyer zu Schwabedissen et al. (2020)</a> stated that the SLCO1B3 gene maps to chromosome 12p12.2, upstream of the SLCO1B7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32818652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Konig, J., Cui, Y., Nies, A. T., Keppler, D. <strong>Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide.</strong> J. Biol. Chem. 275: 23161-23168, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10779507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10779507</a>] [<a href="https://doi.org/10.1074/jbc.M001448200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10779507">Konig et al. (2000)</a> found that OATP8 is also an uptake transporter of organic anions including sulfobromophthalein and 17-beta-glucuronosyl estradiol. They also found that OATP8 did not transport several bile salts that are transported by OATP2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10779507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a series of mouse knockout studies, <a href="#7" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., Al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">van de Steeg et al. (2012)</a> demonstrated that the human SLCO1B1 (<a href="/entry/604843">604843</a>) and SLCO1B3 genes encode proteins expressed at the hepatic sinusoidal membrane that effectively reabsorb bilirubin glucuronides from plasma into the liver. The studies suggested that ABCC3 (<a href="/entry/604323">604323</a>), SLCO1B1, and SLCO1B3 may form a liver-blood shuttling loop for bilirubin glucuronide, in which ABCC3 secretes conjugated bilirubin back into the blood, and the SLC proteins reabsorb it in downstream hepatocytes, thus facilitating efficient detoxification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>SLCO1B3-SLCO1B7 Read-Through Transcript</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Malagnino, V., Hussner, J., Seibert, I., Stolzenburg, A., Sager, C. P., Meyer zu Schwabedissen, H. E. <strong>LST-3TM12 is a member of the OATP1B family and a functional transporter.</strong> Biochem. Pharm. 148: 75-87, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29248594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29248594</a>] [<a href="https://doi.org/10.1016/j.bcp.2017.12.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29248594">Malagnino et al. (2018)</a> showed that overexpression of SLCO1B3-SLCO1B7 significantly enhanced uptake of dehdroepiandrosterone sulfate (DHEAS) and estradiol 17-beta-D-glucuronide in transfected HeLa cells. SLCO1B3-SLCO1B7 was enriched on microsomes and likely accumulated the substrates in liver microsomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29248594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a drug screening test in HeLa cells, <a href="#2" class="mim-tip-reference" title="Malagnino, V., Duthaler, U., Seibert, I., Krahenbuhl, S., Meyer zu Schwabedissen, H. E. <strong>OATP1B3-1B7 (LST-3TM12) is a drug transporter that affects endoplasmic reticulum access and the metabolism of ezetimibe.</strong> Molec. Pharm. 96: 128-137, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31127008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31127008</a>] [<a href="https://doi.org/10.1124/mol.118.114934" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31127008">Malagnino et al. (2019)</a> identified ezetimibe as an inhibitor of OATP1B3-1B7-mediated transport of DHEAS. Ezetimibe was not only an OATP1B3-1B7 inhibitor, but also a substrate of OATP1B3-1B7. Ezetimibe glucuronidation rates were decreased by BSP, another OATP1B3-1B7 inhibitor, suggesting that OATP1B3-1B7 may function as an SER gateway for ezetimibe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31127008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By 5-prime RACE analysis, <a href="#3" class="mim-tip-reference" title="Malagnino, V., Hussner, J., Issa, A., Midzic, A., Meyer zu Schwabedissen, H. E. <strong>OATP1B3-1B7, a novel organic anion transporting polypeptide, is modulated by FXR ligands and transports bile acids.</strong> Am. J. Physiol. Gastrointest. Liver Physiol. 317: G751-G762, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31509437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31509437</a>] [<a href="https://doi.org/10.1152/ajpgi.00330.2018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31509437">Malagnino et al. (2019)</a> showed that transcription of OATP1B3-1B7, as well as both SLCO1B3 and SLCO1B7, was regulated by the SLCO1B3 promoter. Consequently, knockdown of SLCO1B3 in Huh-7 cells reduced SLCO1B3 and SLCO1B7 expression. Treatment of Huh-7 and HepaRG cells with activators of FXR (NR1H4; <a href="/entry/603826">603826</a>), a regulator of SLCO1B3, increased both SLCO1B3 and OATP1B3-1B7 transcripts and influenced cellular accumulation of an OATP1B3-1B7 substrate. Bile acids interacted with OATP1B3-1B7, and their transport into human liver microsomes was significantly reduced in the presence of BSP, an OATP1B3-1B7 inhibitor, indicating that OATP1B3-1B7 is also a bile acid transporter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31509437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Meyer zu Schwabedissen, H. E., Seibert, I., Grube, M., Alter, C. L., Siegmund, W., Hussner, J. <strong>Genetic variants of SLCO1B7 are of relevance for the transport function of OATP1B3-1B7.</strong> Pharm. Res. 161: 105155, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32818652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32818652</a>] [<a href="https://doi.org/10.1016/j.phrs.2020.105155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32818652">Meyer zu Schwabedissen et al. (2020)</a> identified SLCO1B7 coding polymorphisms that influenced the in vitro transport function of OATP1B3-1B7 without altering its expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32818652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Rotor-Type Hyperbilirubinemia, Digenic</em></strong></p><p>
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In affected members of 8 families with Rotor-type hyperbilirubinemia (HBLRR; <a href="/entry/237450">237450</a>), <a href="#7" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., Al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">van de Steeg et al. (2012)</a> identified 2 different homozygous mutations in 2 different genes: the SLCO1B1 gene (<a href="/entry/604843#0001">604843.0001</a>-<a href="/entry/604843#0003">604843.0003</a>) and the SLCO1B3 gene (<a href="#0001">605495.0001</a>-<a href="#0003">605495.0003</a>). Three of the families, who were Saudi Arabian, were homozygous for a 405-kb deletion on chromosome 12 encompassing exons 3 to 15 of SLCO1B3 and the whole of SLCO1B1, as well as homozygous for a splice site mutation in SLCO1B1 (<a href="/entry/604843#0002">604843.0002</a>). Segregation patterns in the families indicated that the disorder can only be caused by complete and simultaneous deficiencies of these 2 genes, which mediate uptake and clearance of conjugated bilirubin across the hepatic sinusoidal membranes into bile. Affected individuals showed conjugated hyperbilirubinemia, delayed plasma clearance of an anionic diagnostic dye (bromsulfthalein), and increased urinary excretion of coproporphyrin I. <a href="#7" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., Al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">Van de Steeg et al. (2012)</a> suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the SLCO1B3 gene and serum bilirubin level, see <a href="/entry/601816">601816</a>.</p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605495[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<p>In affected members of 3 families from central Europe with Rotor-type hyperbilirubinemia (HBLRR; <a href="/entry/237450">237450</a>), <a href="#7" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., Al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">van de Steeg et al. (2012)</a> identified 2 different homozygous mutations in 2 different genes. One was a homozygous 7.2-kb deletion within the SLCO1B3 gene, removing exon 12 and introducing a frameshift and a premature termination codon, thus removing the 3 C-terminal transmembrane domains, and the other was a homozygous mutation in the SLCOB1 gene (R580X; <a href="/entry/604843#0001">604843.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs373707046 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs373707046;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs373707046?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs373707046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs373707046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Filipino patient with Rotor-type hyperbilirubinemia (<a href="/entry/237450">237450</a>), <a href="#7" class="mim-tip-reference" title="van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., Al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H. <strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong> J. Clin. Invest. 122: 519-528, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI59526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22232210">van de Steeg et al. (2012)</a> identified 2 different homozygous mutations affecting 2 different genes. One was a homozygous G-to-A transition in intron 13 of the SLCO1B3 gene (1747+1G-A), predicted to result either in an aberrant transcript or in a truncated protein, and the other was a homozygous truncating mutation in the SLCO1B1 gene (R253X; <a href="/entry/604843#0003">604843.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Konig, J., Cui, Y., Nies, A. T., Keppler, D.
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<strong>Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide.</strong>
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J. Biol. Chem. 275: 23161-23168, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10779507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10779507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10779507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M001448200" target="_blank">Full Text</a>]
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Malagnino, V., Duthaler, U., Seibert, I., Krahenbuhl, S., Meyer zu Schwabedissen, H. E.
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<strong>OATP1B3-1B7 (LST-3TM12) is a drug transporter that affects endoplasmic reticulum access and the metabolism of ezetimibe.</strong>
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Molec. Pharm. 96: 128-137, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31127008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31127008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31127008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1124/mol.118.114934" target="_blank">Full Text</a>]
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Malagnino, V., Hussner, J., Issa, A., Midzic, A., Meyer zu Schwabedissen, H. E.
|
|
<strong>OATP1B3-1B7, a novel organic anion transporting polypeptide, is modulated by FXR ligands and transports bile acids.</strong>
|
|
Am. J. Physiol. Gastrointest. Liver Physiol. 317: G751-G762, 2019.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31509437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31509437</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31509437" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1152/ajpgi.00330.2018" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Malagnino2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Malagnino, V., Hussner, J., Seibert, I., Stolzenburg, A., Sager, C. P., Meyer zu Schwabedissen, H. E.
|
|
<strong>LST-3TM12 is a member of the OATP1B family and a functional transporter.</strong>
|
|
Biochem. Pharm. 148: 75-87, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29248594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29248594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29248594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bcp.2017.12.012" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Meyer zu Schwabedissen2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Meyer zu Schwabedissen, H. E., Seibert, I., Grube, M., Alter, C. L., Siegmund, W., Hussner, J.
|
|
<strong>Genetic variants of SLCO1B7 are of relevance for the transport function of OATP1B3-1B7.</strong>
|
|
Pharm. Res. 161: 105155, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32818652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32818652</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32818652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.phrs.2020.105155" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Mikkaichi2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mikkaichi, T., Suzuki, T., Onogawa, T., Tanemoto, M., Mizutamari, H., Okada, M., Chaki, T., Masuda, S., Tokui, T., Eto, N., Abe, M., Satoh, F., Unno, M., Hishinuma, T., Inui, K., Ito, S., Goto, J., Abe, T.
|
|
<strong>Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 3569-3574, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14993604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14993604</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14993604[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14993604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0304987101" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="van de Steeg2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., Al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H.
|
|
<strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong>
|
|
J. Clin. Invest. 122: 519-528, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22232210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22232210</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22232210[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22232210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI59526" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 05/09/2022
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 05/09/2022<br>Cassandra L. Kniffin - updated : 1/11/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini : 12/26/2000
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/14/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 05/10/2022<br>mgross : 05/10/2022<br>carol : 05/10/2022<br>mgross : 05/09/2022<br>mgross : 05/09/2022<br>carol : 09/08/2021<br>carol : 09/16/2013<br>alopez : 7/24/2013<br>terry : 7/5/2012<br>carol : 1/20/2012<br>carol : 1/12/2012<br>ckniffin : 1/11/2012<br>wwang : 4/15/2010<br>terry : 3/31/2010<br>mgross : 11/4/2004<br>cwells : 11/12/2003<br>terry : 12/27/2000<br>carol : 12/26/2000
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 605495
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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SOLUTE CARRIER ORGANIC ANION TRANSPORTER FAMILY, MEMBER 1B3; SLCO1B3
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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ORGANIC ANION TRANSPORTER 8; OATP8<br />
|
|
ORGANIC ANION TRANSPORTER 1B3; OATP1B3<br />
|
|
SOLUTE CARRIER FAMILY 21 (ORGANIC ANION TRANSPORTER), MEMBER 8, FORMERLY; SLC21A8, FORMERLY
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
|
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<span class="h3 mim-font">
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SLCO1B3-SLCO1B7 SPLICED READ-THROUGH TRANSCRIPT, INCLUDED; SLCO1B3-SLCO1B7, INCLUDED
|
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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OATP1B3-1B7, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: SLCO1B3</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 12p12.2
|
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:20,810,705-20,916,911 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
12p12.2
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Hyperbilirubinemia, Rotor type, digenic
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
237450
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Digenic recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>SLCO1B3 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004). </p><p>An SLCO1B3-SLCO1B7 (619875) spliced read-through transcript also appears to produce a functional OATP (Malagnino et al., 2018). </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Based on sequence homology to human organic anion transporter-2 (OATP2) (SLCO1B1; 604843), Konig et al. (2000) cloned SLCO1B3, which they termed OATP8 (SLC21A8). The deduced 702-amino acid OATP8 protein shares 80% sequence identity with OATP2, a hepatic basolateral uptake transporter. Northern blot analysis revealed a liver-specific expression pattern similar to that of OATP2. An antibody raised against the C terminus localized OATP8 to the basolateral membrane of human hepatocytes and the recombinant glycoprotein, expressed in MDCKII cells, to the lateral membrane. </p><p><strong><em>SLCO1B3-SLCO1B7 Read-Through Transcript</em></strong></p><p>
|
|
Malagnino et al. (2018) identified a human SLCO1B3-SLCO1B7 spliced read-through transcript, which they called LST-3TM12, in which the 5-prime part originated from SLCO1B3 and the remainder originated from SLCO1B7. The read-through transcript encodes an OATP with 12 transmembrane domains and a large fifth extracellular loop. RT-PCR analysis showed that SLCO1B3-SLCO1B7 was expressed in human liver and originated from hepatocytes. Immunostaining revealed that SLCO1B3-SLCO1B7 localized to multiple vesicular intracellular structures representing the endoplasmic reticulum (ER). Heterologous expression in HeLa cells confirmed ER localization and also showed localization in the plasma membrane. </p><p>By Western blot analysis, Malagnino et al. (2019) showed that the SLCO1B3-SLCO1B7 protein, which they called OATP1B3-1B7, was expressed in microsomes of human liver and small intestine and localized to smooth ER (SER). </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Konig et al. (2000) determined that the SLCO1B3 gene contains 14 exons, similar to the SLCO1A2 (602883) and SLCO1B1 genes. SLCO1B3 has 13 and 9 exons identical in length with those of SLCO1B1 and SLCO1A2, respectively. </p>
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|
</span>
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>Konig et al. (2000) mapped the SLCO1B3 gene to chromosome 12p12 by identification of its sequence within a cosmid clone. </p><p>Meyer zu Schwabedissen et al. (2020) stated that the SLCO1B3 gene maps to chromosome 12p12.2, upstream of the SLCO1B7 gene. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Konig et al. (2000) found that OATP8 is also an uptake transporter of organic anions including sulfobromophthalein and 17-beta-glucuronosyl estradiol. They also found that OATP8 did not transport several bile salts that are transported by OATP2. </p><p>In a series of mouse knockout studies, van de Steeg et al. (2012) demonstrated that the human SLCO1B1 (604843) and SLCO1B3 genes encode proteins expressed at the hepatic sinusoidal membrane that effectively reabsorb bilirubin glucuronides from plasma into the liver. The studies suggested that ABCC3 (604323), SLCO1B1, and SLCO1B3 may form a liver-blood shuttling loop for bilirubin glucuronide, in which ABCC3 secretes conjugated bilirubin back into the blood, and the SLC proteins reabsorb it in downstream hepatocytes, thus facilitating efficient detoxification. </p><p><strong><em>SLCO1B3-SLCO1B7 Read-Through Transcript</em></strong></p><p>
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Malagnino et al. (2018) showed that overexpression of SLCO1B3-SLCO1B7 significantly enhanced uptake of dehdroepiandrosterone sulfate (DHEAS) and estradiol 17-beta-D-glucuronide in transfected HeLa cells. SLCO1B3-SLCO1B7 was enriched on microsomes and likely accumulated the substrates in liver microsomes. </p><p>Using a drug screening test in HeLa cells, Malagnino et al. (2019) identified ezetimibe as an inhibitor of OATP1B3-1B7-mediated transport of DHEAS. Ezetimibe was not only an OATP1B3-1B7 inhibitor, but also a substrate of OATP1B3-1B7. Ezetimibe glucuronidation rates were decreased by BSP, another OATP1B3-1B7 inhibitor, suggesting that OATP1B3-1B7 may function as an SER gateway for ezetimibe. </p><p>By 5-prime RACE analysis, Malagnino et al. (2019) showed that transcription of OATP1B3-1B7, as well as both SLCO1B3 and SLCO1B7, was regulated by the SLCO1B3 promoter. Consequently, knockdown of SLCO1B3 in Huh-7 cells reduced SLCO1B3 and SLCO1B7 expression. Treatment of Huh-7 and HepaRG cells with activators of FXR (NR1H4; 603826), a regulator of SLCO1B3, increased both SLCO1B3 and OATP1B3-1B7 transcripts and influenced cellular accumulation of an OATP1B3-1B7 substrate. Bile acids interacted with OATP1B3-1B7, and their transport into human liver microsomes was significantly reduced in the presence of BSP, an OATP1B3-1B7 inhibitor, indicating that OATP1B3-1B7 is also a bile acid transporter. </p><p>Meyer zu Schwabedissen et al. (2020) identified SLCO1B7 coding polymorphisms that influenced the in vitro transport function of OATP1B3-1B7 without altering its expression. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><strong><em>Rotor-Type Hyperbilirubinemia, Digenic</em></strong></p><p>
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In affected members of 8 families with Rotor-type hyperbilirubinemia (HBLRR; 237450), van de Steeg et al. (2012) identified 2 different homozygous mutations in 2 different genes: the SLCO1B1 gene (604843.0001-604843.0003) and the SLCO1B3 gene (605495.0001-605495.0003). Three of the families, who were Saudi Arabian, were homozygous for a 405-kb deletion on chromosome 12 encompassing exons 3 to 15 of SLCO1B3 and the whole of SLCO1B1, as well as homozygous for a splice site mutation in SLCO1B1 (604843.0002). Segregation patterns in the families indicated that the disorder can only be caused by complete and simultaneous deficiencies of these 2 genes, which mediate uptake and clearance of conjugated bilirubin across the hepatic sinusoidal membranes into bile. Affected individuals showed conjugated hyperbilirubinemia, delayed plasma clearance of an anionic diagnostic dye (bromsulfthalein), and increased urinary excretion of coproporphyrin I. Van de Steeg et al. (2012) suggested that individuals with Rotor syndrome may also be at increased risk for drug toxicity, since these proteins are involved in the clearance of drug conjugates. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the SLCO1B3 gene and serum bilirubin level, see 601816.</p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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SLCO1B3, 7.2-KB DEL
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<br />
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ClinVar: RCV000023444
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</div>
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<span class="mim-text-font">
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<p>In affected members of 3 families from central Europe with Rotor-type hyperbilirubinemia (HBLRR; 237450), van de Steeg et al. (2012) identified 2 different homozygous mutations in 2 different genes. One was a homozygous 7.2-kb deletion within the SLCO1B3 gene, removing exon 12 and introducing a frameshift and a premature termination codon, thus removing the 3 C-terminal transmembrane domains, and the other was a homozygous mutation in the SLCOB1 gene (R580X; 604843.0001). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SLCO1B3, IVS13, G-A, +1
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<br />
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SNP: rs373707046,
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gnomAD: rs373707046,
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ClinVar: RCV000023445, RCV003415733
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Filipino patient with Rotor-type hyperbilirubinemia (237450), van de Steeg et al. (2012) identified 2 different homozygous mutations affecting 2 different genes. One was a homozygous G-to-A transition in intron 13 of the SLCO1B3 gene (1747+1G-A), predicted to result either in an aberrant transcript or in a truncated protein, and the other was a homozygous truncating mutation in the SLCO1B1 gene (R253X; 604843.0003). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Konig, J., Cui, Y., Nies, A. T., Keppler, D.
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<strong>Localization and genomic organization of a new hepatocellular organic anion transporting polypeptide.</strong>
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J. Biol. Chem. 275: 23161-23168, 2000.
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[PubMed: 10779507]
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[Full Text: https://doi.org/10.1074/jbc.M001448200]
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</li>
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<li>
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<p class="mim-text-font">
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Malagnino, V., Duthaler, U., Seibert, I., Krahenbuhl, S., Meyer zu Schwabedissen, H. E.
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<strong>OATP1B3-1B7 (LST-3TM12) is a drug transporter that affects endoplasmic reticulum access and the metabolism of ezetimibe.</strong>
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Molec. Pharm. 96: 128-137, 2019.
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[PubMed: 31127008]
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[Full Text: https://doi.org/10.1124/mol.118.114934]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Malagnino, V., Hussner, J., Issa, A., Midzic, A., Meyer zu Schwabedissen, H. E.
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<strong>OATP1B3-1B7, a novel organic anion transporting polypeptide, is modulated by FXR ligands and transports bile acids.</strong>
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Am. J. Physiol. Gastrointest. Liver Physiol. 317: G751-G762, 2019.
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[PubMed: 31509437]
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[Full Text: https://doi.org/10.1152/ajpgi.00330.2018]
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</li>
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<li>
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<p class="mim-text-font">
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Malagnino, V., Hussner, J., Seibert, I., Stolzenburg, A., Sager, C. P., Meyer zu Schwabedissen, H. E.
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<strong>LST-3TM12 is a member of the OATP1B family and a functional transporter.</strong>
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Biochem. Pharm. 148: 75-87, 2018.
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[PubMed: 29248594]
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[Full Text: https://doi.org/10.1016/j.bcp.2017.12.012]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Meyer zu Schwabedissen, H. E., Seibert, I., Grube, M., Alter, C. L., Siegmund, W., Hussner, J.
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<strong>Genetic variants of SLCO1B7 are of relevance for the transport function of OATP1B3-1B7.</strong>
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Pharm. Res. 161: 105155, 2020.
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[PubMed: 32818652]
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[Full Text: https://doi.org/10.1016/j.phrs.2020.105155]
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<li>
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<p class="mim-text-font">
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Mikkaichi, T., Suzuki, T., Onogawa, T., Tanemoto, M., Mizutamari, H., Okada, M., Chaki, T., Masuda, S., Tokui, T., Eto, N., Abe, M., Satoh, F., Unno, M., Hishinuma, T., Inui, K., Ito, S., Goto, J., Abe, T.
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<strong>Isolation and characterization of a digoxin transporter and its rat homologue expressed in the kidney.</strong>
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Proc. Nat. Acad. Sci. 101: 3569-3574, 2004.
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[PubMed: 14993604]
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[Full Text: https://doi.org/10.1073/pnas.0304987101]
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</p>
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<li>
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<p class="mim-text-font">
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van de Steeg, E., Stranecky, V., Hartmannova, H., Noskova, L., Hrebicek, M., Wagenaar, E., van Esch, A., de Waart, D. R., Oude Elferink, R. P. J., Kenworthy, K. E., Sticova, E., Al-Edreesi, M., Knisely, A. S., Kmoch, S., Jirsa, M., Schinkel, A. H.
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<strong>Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.</strong>
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J. Clin. Invest. 122: 519-528, 2012.
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[PubMed: 22232210]
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[Full Text: https://doi.org/10.1172/JCI59526]
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</ol>
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<span class="mim-text-font">
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Matthew B. Gross - updated : 05/09/2022<br>Bao Lige - updated : 05/09/2022<br>Cassandra L. Kniffin - updated : 1/11/2012
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<span class="mim-text-font">
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Carol A. Bocchini : 12/26/2000
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alopez : 02/14/2024<br>mgross : 05/10/2022<br>mgross : 05/10/2022<br>carol : 05/10/2022<br>mgross : 05/09/2022<br>mgross : 05/09/2022<br>carol : 09/08/2021<br>carol : 09/16/2013<br>alopez : 7/24/2013<br>terry : 7/5/2012<br>carol : 1/20/2012<br>carol : 1/12/2012<br>ckniffin : 1/11/2012<br>wwang : 4/15/2010<br>terry : 3/31/2010<br>mgross : 11/4/2004<br>cwells : 11/12/2003<br>terry : 12/27/2000<br>carol : 12/26/2000
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