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Entry
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- *601430 - UPF1 RNA HELICASE AND ATPase; UPF1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601430</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</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>
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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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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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 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=ENSG00000005007;t=ENST00000262803" 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=5976" 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=601430" 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=ENSG00000005007;t=ENST00000262803" 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_001297549,NM_002911,XM_017027105,XM_017027106,XM_047439191" 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_002911" 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=601430" 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=03254&isoform_id=03254_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/UPF1" 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/1575536,1885356,2739355,3004538,3328175,17380291,18375673,24981038,34532026,119605144,119605145,119605146,119605147,119605148,193785930,636742921,636742923,636742925,636742927,636742929,636742931,636742933,636742935,636742937,636742939,636742941,636742943,636742945,636742947,636742949,636742951,636742953,636742955,662033888,929653837,1034608858,1034608860,1527173633,2019557747,2019557749,2019557751,2019557753,2019557755,2019557757,2217322339,2462566737,2462566739,2462566741" 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/Q92900" 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=5976" 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=ENSG00000005007;t=ENST00000262803" 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=UPF1" 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=UPF1" 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+5976" 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/UPF1" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5976" 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=chr19&hgg_gene=ENST00000262803.10&hgg_start=18831959&hgg_end=18868230&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><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601430[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 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="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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<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=601430[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://www.deciphergenomics.org/gene/UPF1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000005007" 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=UPF1" 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=UPF1" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=UPF1&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/PA34328" 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 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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</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:9962" 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/FBgn0030354.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:107995" 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/UPF1#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:107995" 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/5976/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://www.orthodb.org/?ncbi=5976" 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="https://wormbase.org/db/gene/gene?name=WBGene00004880;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-2836" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></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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</a>
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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:5976" 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=UPF1&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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<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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<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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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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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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601430
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</span>
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</span>
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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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UPF1 RNA HELICASE AND ATPase; UPF1
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<div>
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<h4>
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<span class="mim-font">
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UPF1, YEAST, HOMOLOG OF<br />
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HUPF1<br />
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REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1
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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="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=UPF1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">UPF1</a></em></strong>
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</span>
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</p>
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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">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/19/474?start=-3&limit=10&highlight=474">19p13.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:18831959-18868230&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'})">19:18,831,959-18,868,230</a> </span>
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</em>
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</strong>
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<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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>UPF1 is a helicase that shows RNA-dependent ATPase and 5-prime-to-3-prime RNA helicase activities. The ATPase activity of UPF1 is critical to the nonsense-mediated RNA decay (NMD) pathway, which targets mRNAs with premature termination codons for rapid degradation (summary by <a href="#4" class="mim-tip-reference" title="Franks, T. M., Singh, G., Lykke-Andersen, J. <strong>Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense-mediated mRNA decay.</strong> Cell 143: 938-950, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21145460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21145460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21145460[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/10.1016/j.cell.2010.11.043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21145460">Franks et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21145460" 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>
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<br />
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</div>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#10" class="mim-tip-reference" title="Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Dietz, H. C. <strong>Cloning and characterization of a human regulator of nonsense transcript stability. (Abstract)</strong> Am. J. Hum. Genet. 59 (suppl.): A32 only, 1996."None>Perlick et al. (1996)</a> noted that at least 3 transacting factors (Upf1-3) are required for NMD in yeast. They identified a human cDNA encoding a protein with strong homology to Upf1 that they termed RENT1. Although divergence exists at the extreme N and C termini of the human and yeast polypeptides, the large central region of the protein shows 58% residue identity and 80% conservation. <a href="#10" class="mim-tip-reference" title="Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Dietz, H. C. <strong>Cloning and characterization of a human regulator of nonsense transcript stability. (Abstract)</strong> Am. J. Hum. Genet. 59 (suppl.): A32 only, 1996."None>Perlick et al. (1996)</a> stated that RENT1 is the first identified mammalian protein that contains all of the putative functional elements found in Upf1, including zinc finger-like nucleotide-binding domains and all the motifs common to members of helicase superfamily I. By cloning of the mouse gene and subsequent alignment of the sequences for all related helicases, <a href="#11" class="mim-tip-reference" title="Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Kendzior, R. J., Jr., Dietz, H. C. <strong>Mammalian orthologues of a yeast regulator of nonsense transcript stability.</strong> Proc. Nat. Acad. Sci. 93: 10928-10932, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8855285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8855285</a>] [<a href="https://doi.org/10.1073/pnas.93.20.10928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8855285">Perlick et al. (1996)</a> demonstrated that RENT1, Upf1, Mov10, and Sen1 define a distinct subset within the superfamily. As expected for an essential component of the apparently ubiquitous NMD pathway, RENT1 was detected in all tissues tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8855285" 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>Independently, <a href="#3" class="mim-tip-reference" title="Applequist, S. E., Selg, M., Raman, C., Jack, H.-M. <strong>Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein.</strong> Nucleic Acids Res. 25: 814-821, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9064659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9064659</a>] [<a href="https://doi.org/10.1093/nar/25.4.814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9064659">Applequist et al. (1997)</a> isolated cDNAs encoding RENT1, which they named HUPF1 (human Upf1 protein). They stated that HUPF1 encodes a predicted 1,118-amino acid protein. Western blot analysis of human cell extracts showed that HUPF1 migrated as a 130-kD protein. Using immunofluorescence, <a href="#3" class="mim-tip-reference" title="Applequist, S. E., Selg, M., Raman, C., Jack, H.-M. <strong>Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein.</strong> Nucleic Acids Res. 25: 814-821, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9064659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9064659</a>] [<a href="https://doi.org/10.1093/nar/25.4.814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9064659">Applequist et al. (1997)</a> found that human and mouse HUPF1, like yeast Upf1, localized in the cytoplasm but not in the nucleus. Northern blot analysis detected a predominant 5.5-kb HUPF1 mRNA and a minor 3.7-kb HUPF1 mRNA in various human cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9064659" 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="#10" class="mim-tip-reference" title="Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Dietz, H. C. <strong>Cloning and characterization of a human regulator of nonsense transcript stability. (Abstract)</strong> Am. J. Hum. Genet. 59 (suppl.): A32 only, 1996."None>Perlick et al. (1996)</a> found that expression of a chimeric protein containing the central region of human RENT1 flanked by the extreme N and C termini of yeast Upf1 complemented the Upf1-deficient growth phenotype in yeast. These data demonstrated that RENT1 is a mammalian ortholog of Upf1.</p><p><a href="#12" class="mim-tip-reference" title="Sun, X., Perlick, H. A., Dietz, H. C., Maquat, L. E. <strong>A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells.</strong> Proc. Nat. Acad. Sci. 95: 10009-10014, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9707591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9707591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9707591[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.95.17.10009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9707591">Sun et al. (1998)</a> provided evidence for a factor that functions to eliminate the production of nonsense-containing RNAs in mammalian cells. They identified the factor, variously referred to as RENT1 and HUPF1, by isolating cDNA for a human homolog of S. cerevisiae Upf1p, which is a group I RNA helicase that functions in the nonsense-mediated decay of mRNA in yeast. Using monkey COS cells and human HeLa cells, <a href="#12" class="mim-tip-reference" title="Sun, X., Perlick, H. A., Dietz, H. C., Maquat, L. E. <strong>A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells.</strong> Proc. Nat. Acad. Sci. 95: 10009-10014, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9707591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9707591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9707591[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.95.17.10009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9707591">Sun et al. (1998)</a> demonstrated that expression of human Upf1 protein harboring an arginine-to-cysteine mutation at residue 844 within the RNA helicase domain acts in a dominant-negative fashion to abrogate the decay of nonsense-containing mRNA that takes place in association with nuclei or in the cytoplasm. These findings provided evidence that nonsense-mediated mRNA decay is related mechanistically in yeast and in mammalian cells, regardless of the cellular site of decay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9707591" 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="#8" class="mim-tip-reference" title="Mendell, J. T., ap Rhys, C. M. J., Dietz, H. C. <strong>Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts.</strong> Science 298: 419-371, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228722</a>] [<a href="https://doi.org/10.1126/science.1074428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12228722">Mendell et al. (2002)</a> assessed the role of factors essential for NMD in nonsense-mediated altered splicing (NAS) with the use of RNA interference in mammalian cells. Inhibition of RENT1 expression abrogated both NMD and NAS of nonsense T-cell receptor beta (TCRB; see <a href="/entry/186930">186930</a>) transcripts. In contrast, inhibition of RENT2 (UPF2; <a href="/entry/605529">605529</a>) expression did not disrupt NAS despite achieving comparable stabilization of nonsense transcripts. <a href="#8" class="mim-tip-reference" title="Mendell, J. T., ap Rhys, C. M. J., Dietz, H. C. <strong>Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts.</strong> Science 298: 419-371, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228722</a>] [<a href="https://doi.org/10.1126/science.1074428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12228722">Mendell et al. (2002)</a> also demonstrated that NAS and NMD are genetically separable functions of RENT1. <a href="#8" class="mim-tip-reference" title="Mendell, J. T., ap Rhys, C. M. J., Dietz, H. C. <strong>Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts.</strong> Science 298: 419-371, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228722</a>] [<a href="https://doi.org/10.1126/science.1074428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12228722">Mendell et al. (2002)</a> demonstrated that RENT1 enters the nucleus, where it may directly influence early events in mRNA biogenesis. <a href="#8" class="mim-tip-reference" title="Mendell, J. T., ap Rhys, C. M. J., Dietz, H. C. <strong>Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts.</strong> Science 298: 419-371, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228722</a>] [<a href="https://doi.org/10.1126/science.1074428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12228722">Mendell et al. (2002)</a> concluded that their results provide compelling evidence that NAS relies on a component of the nonsense surveillance machinery but is not an indirect consequence of NMD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12228722" 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 immunoprecipitation and immunodepletion experiments, <a href="#9" class="mim-tip-reference" title="Ohnishi, T., Yamashita, A., Kashima, I., Schell, T., Anders, K. R., Grimson, A., Hachiya, T., Hentze, M. W., Anderson, P., Ohno, S. <strong>Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7.</strong> Molec. Cell 12: 1187-1200, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14636577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14636577</a>] [<a href="https://doi.org/10.1016/s1097-2765(03)00443-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14636577">Ohnishi et al. (2003)</a> showed that SMG5 (<a href="/entry/610962">610962</a>) and SMG7 (<a href="/entry/610964">610964</a>) associated with a hyperphosphorylated form of UPF1, and that SMG5 was involved in UPF1 dephosphorylation by the protein phosphatase-2A (PP2A; see <a href="/entry/176915">176915</a>) complex. SMG5 mutants that interfered with UPF1 dephosphorylation also inhibited nonsense-mediated mRNA decay in a dominant-negative manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14636577" 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="#2" class="mim-tip-reference" title="Amrani, N., Ganesan, R., Kervestin, S., Mangus, D. A., Ghosh, S., Jacobson, A. <strong>A faux 3-prime-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay.</strong> Nature 432: 112-118, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15525991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15525991</a>] [<a href="https://doi.org/10.1038/nature03060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15525991">Amrani et al. (2004)</a> used a primer extension inhibition (toeprinting) assay to delineate ribosome positioning and found that premature translation termination in yeast extracts is indeed aberrant. Ribosomes encountering premature UAA or UGA codons in the Can1 mRNA failed to release and, instead, migrated to upstream AUGs. This anomaly depended upon prior nonsense codon recognition and was eliminated in extracts derived from cells lacking the principal NMD factor Upf1p, or by flanking the nonsense codon with a normal 3-prime untranslated region (UTR). Tethered poly(A)-binding protein (Pab1p), used as a mimic of a normal 3-prime UTR, recruited the termination factor Sup35p (eRF3) and stabilized nonsense-containing mRNAs. <a href="#2" class="mim-tip-reference" title="Amrani, N., Ganesan, R., Kervestin, S., Mangus, D. A., Ghosh, S., Jacobson, A. <strong>A faux 3-prime-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay.</strong> Nature 432: 112-118, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15525991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15525991</a>] [<a href="https://doi.org/10.1038/nature03060" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15525991">Amrani et al. (2004)</a> concluded that efficient termination and mRNA stability are dependent on a properly configured 3-prime UTR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15525991" 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>Staufen-1 (STAU1; <a href="/entry/601716">601716</a>) is an RNA-binding protein that is thought to function in mRNA transport and translational control. <a href="#5" class="mim-tip-reference" title="Kim, Y. K., Furic, L., DesGroseillers, L., Maquat, L. E. <strong>Mammalian Staufen1 recruits Upf1 to specific mRNA 3-prime UTRs so as to elicit mRNA decay.</strong> Cell 120: 195-208, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15680326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15680326</a>] [<a href="https://doi.org/10.1016/j.cell.2004.11.050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15680326">Kim et al. (2005)</a> described an mRNA decay mechanism involving STAU1, UPF1, and a termination codon. Unlike nonsense-mediated decay, this mechanism did not involve pre-mRNA splicing and occurred when UPF2 or UPF3X (UPF3B; <a href="/entry/300298">300298</a>) was downregulated. STAU1 bound directly to UPF1 and elicited mRNA decay when tethered downstream of a termination codon. STAU1 also interacted with the 3-prime UTR of ADP-ribosylation factor-1 (ARF1; <a href="/entry/103180">103180</a>) mRNA. Accordingly, downregulation of either STAU1 or UPF1 increased ARF1 mRNA stability. These findings suggested that ARF1 mRNA is a natural target for STAU1-mediated decay, and data indicated that other mRNAs are also natural targets. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15680326" 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 crosslinking and coimmunoprecipitation experiments on HeLa cell nuclear extracts, <a href="#1" class="mim-tip-reference" title="Agranat, L., Raitskin, O., Sperling, J., Sperling, R. <strong>The editing enzyme ADAR1 and the mRNA surveillance protein hUpf1 interact in the cell nucleus.</strong> Proc. Nat. Acad. Sci. 105: 5028-5033, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18362360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18362360</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18362360[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.0710576105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18362360">Agranat et al. (2008)</a> showed that ADAR1 (<a href="/entry/146920">146920</a>) associated with the RNA surveillance protein HUPF1 in the supraspliceosome, a 21-megadalton nuclear ribonucleoprotein complex. The interaction did not depend on RNA. Knockdown of ADAR1 with small interfering RNA upregulated the expression of 4 of 6 genes that undergo both A-to-I editing by ADARs and degradation via HUPF1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18362360" 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>Cellular mRNAs exist as messenger ribonucleoprotein (mRNP) complexes containing the mRNA and associated proteins. <a href="#4" class="mim-tip-reference" title="Franks, T. M., Singh, G., Lykke-Andersen, J. <strong>Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense-mediated mRNA decay.</strong> Cell 143: 938-950, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21145460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21145460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21145460[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/10.1016/j.cell.2010.11.043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21145460">Franks et al. (2010)</a> found that small interfering RNA-mediated knockdown of UPF1 in HeLa cells or expression of an ATPase-deficient UPF1 mutant caused accumulation of an NMD mRNP in cytoplasmic processing bodies. In the absence of UPF1 ATPase activity, the NMD factors SMG5, SMG6 (<a href="/entry/610963">610963</a>), and SMG7 colocalized with a partially degraded 3-prime mRNA intermediate in cytoplasmic processing bodies. ATPase-deficient UPF1 copurified with multiple NMD factors, including XRN1 (<a href="/entry/607994">607994</a>) and PABPC1 (<a href="/entry/604679">604679</a>), in addition to SMG5, SMG6, and SMG7, and with exon junction complex components (see <a href="/entry/608546">608546</a>). <a href="#4" class="mim-tip-reference" title="Franks, T. M., Singh, G., Lykke-Andersen, J. <strong>Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense-mediated mRNA decay.</strong> Cell 143: 938-950, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21145460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21145460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21145460[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/10.1016/j.cell.2010.11.043" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21145460">Franks et al. (2010)</a> concluded that UPF1 ATPase activity is required for disassembly of mRNP complexes, and that disassembly of these complexes is required for degradation of mRNA by XRN1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21145460" 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="#11" class="mim-tip-reference" title="Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Kendzior, R. J., Jr., Dietz, H. C. <strong>Mammalian orthologues of a yeast regulator of nonsense transcript stability.</strong> Proc. Nat. Acad. Sci. 93: 10928-10932, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8855285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8855285</a>] [<a href="https://doi.org/10.1073/pnas.93.20.10928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8855285">Perlick et al. (1996)</a> mapped the mouse Rent1 gene to mouse chromosome 8 by analysis of the Jackson Laboratory BSS backcross DNA panel. The region of mouse chromosome 8 was known to have homology of synteny to 19p13.2-p13.11; the human probe detected human chromosome 19-specific restriction fragments within the NIGMS human/rodent somatic cell hybrid panel. <a href="#10" class="mim-tip-reference" title="Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Dietz, H. C. <strong>Cloning and characterization of a human regulator of nonsense transcript stability. (Abstract)</strong> Am. J. Hum. Genet. 59 (suppl.): A32 only, 1996."None>Perlick et al. (1996)</a> noted that although tumorigenic or accelerated aging phenotypes might be predicted to result from the somatic accumulation of nonsense or frameshift mutations on an NMD-deficient background, no apparently relevant phenotypes have been linked to the map positions for the murine or human genes on syntenic regions of chromosomes 8 and 19p13.2-p13.11, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8855285" 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>Somatic Mutation in Pancreatic Adenosquamous Carcinoma</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Liu, C., Karam, R., Zhou, Y., Su, F., Ji, Y., Li, G., Xu, G., Lu, L., Wang, C., Song, M., Zhu, J., Wang, Y., Zhao, Y., Foo, W. C., Zuo, M., Valasek, M. A., Javle, M., Wilkinson, M. F., Lu, Y. <strong>The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma.</strong> Nature Med. 20: 596-598, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24859531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24859531</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24859531[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/10.1038/nm.3548" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24859531">Liu et al. (2014)</a> identified mutations in the UPF1 gene in pancreatic adenosquamous carcinoma (ASC) tumors (see <a href="/entry/260350">260350</a>) from 18 of 23 patients. <a href="#6" class="mim-tip-reference" title="Liu, C., Karam, R., Zhou, Y., Su, F., Ji, Y., Li, G., Xu, G., Lu, L., Wang, C., Song, M., Zhu, J., Wang, Y., Zhao, Y., Foo, W. C., Zuo, M., Valasek, M. A., Javle, M., Wilkinson, M. F., Lu, Y. <strong>The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma.</strong> Nature Med. 20: 596-598, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24859531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24859531</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24859531[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/10.1038/nm.3548" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24859531">Liu et al. (2014)</a> also tested 3 other NMD genes--UPF2 (<a href="/entry/605529">605529</a>), UPF3A (<a href="/entry/605530">605530</a>), and UPF3B (<a href="/entry/300298">300298</a>)--but did not detect mutations. The UPF1 mutations were somatic in origin, as they were not present in matched normal pancreatic tissues from the 18 patients. UPF1 mutations were also not detectable in 29 non-ASC pancreatic tumors and in 21 lung squamous cell carcinomas that were tested. <a href="#6" class="mim-tip-reference" title="Liu, C., Karam, R., Zhou, Y., Su, F., Ji, Y., Li, G., Xu, G., Lu, L., Wang, C., Song, M., Zhu, J., Wang, Y., Zhao, Y., Foo, W. C., Zuo, M., Valasek, M. A., Javle, M., Wilkinson, M. F., Lu, Y. <strong>The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma.</strong> Nature Med. 20: 596-598, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24859531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24859531</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24859531[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/10.1038/nm.3548" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24859531">Liu et al. (2014)</a> concluded that UPF1 mutations are a unique signature of most pancreatic adenosquamous carcinomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24859531" 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="#7" class="mim-tip-reference" title="Medghalchi, S. M., Frischmeyer, P. A., Mendell, J. T., Kelly, A. G., Lawler, A. M., Dietz, H. C. <strong>Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability.</strong> Hum. Molec. Genet. 10: 99-105, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11152657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11152657</a>] [<a href="https://doi.org/10.1093/hmg/10.2.99" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11152657">Medghalchi et al. (2001)</a> explored the consequences of loss of NMD function in vertebrates through targeted disruption of the Rent1 gene, which encodes a mammalian ortholog of Upf1p, in murine embryonic stem cells. Mice heterozygous for the targeted allele showed no apparent phenotypic abnormalities but homozygosity was never observed, demonstrating that Rent1 is essential for embryonic viability. Homozygous targeted embryos showed complete loss of NMD and were viable in the preimplantation period, but resorbed shortly after implantation. Furthermore, Rent1 -/- blastocysts isolated at 3.5 days postcoitum underwent apoptosis in culture following a brief phase of cellular expansion. The authors hypothesized that NMD is essential for mammalian cellular viability and supports a critical role for the pathway in the regulated expression of selected physiologic transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11152657" 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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[<a href="https://doi.org/10.1073/pnas.0710576105" target="_blank">Full Text</a>]
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Amrani, N., Ganesan, R., Kervestin, S., Mangus, D. A., Ghosh, S., Jacobson, A.
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<strong>A faux 3-prime-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay.</strong>
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Nature 432: 112-118, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15525991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15525991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15525991" 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/10.1038/nature03060" target="_blank">Full Text</a>]
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Applequist, S. E., Selg, M., Raman, C., Jack, H.-M.
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<strong>Cloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 protein.</strong>
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Nucleic Acids Res. 25: 814-821, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9064659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9064659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9064659" 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/10.1093/nar/25.4.814" target="_blank">Full Text</a>]
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Franks, T. M., Singh, G., Lykke-Andersen, J.
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<strong>Upf1 ATPase-dependent mRNP disassembly is required for completion of nonsense-mediated mRNA decay.</strong>
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Cell 143: 938-950, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21145460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21145460</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21145460[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=21145460" 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.cell.2010.11.043" target="_blank">Full Text</a>]
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Kim, Y. K., Furic, L., DesGroseillers, L., Maquat, L. E.
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<strong>Mammalian Staufen1 recruits Upf1 to specific mRNA 3-prime UTRs so as to elicit mRNA decay.</strong>
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Cell 120: 195-208, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15680326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15680326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15680326" 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.cell.2004.11.050" target="_blank">Full Text</a>]
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Liu, C., Karam, R., Zhou, Y., Su, F., Ji, Y., Li, G., Xu, G., Lu, L., Wang, C., Song, M., Zhu, J., Wang, Y., Zhao, Y., Foo, W. C., Zuo, M., Valasek, M. A., Javle, M., Wilkinson, M. F., Lu, Y.
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<strong>The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma.</strong>
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Nature Med. 20: 596-598, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24859531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24859531</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24859531[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=24859531" 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/10.1038/nm.3548" target="_blank">Full Text</a>]
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Medghalchi, S. M., Frischmeyer, P. A., Mendell, J. T., Kelly, A. G., Lawler, A. M., Dietz, H. C.
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<strong>Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability.</strong>
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Hum. Molec. Genet. 10: 99-105, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11152657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11152657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11152657" 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/10.1093/hmg/10.2.99" target="_blank">Full Text</a>]
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Mendell, J. T., ap Rhys, C. M. J., Dietz, H. C.
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<strong>Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts.</strong>
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Science 298: 419-371, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12228722" 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/10.1126/science.1074428" target="_blank">Full Text</a>]
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Ohnishi, T., Yamashita, A., Kashima, I., Schell, T., Anders, K. R., Grimson, A., Hachiya, T., Hentze, M. W., Anderson, P., Ohno, S.
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<strong>Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7.</strong>
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Molec. Cell 12: 1187-1200, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14636577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14636577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14636577" 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/s1097-2765(03)00443-x" target="_blank">Full Text</a>]
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Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Dietz, H. C.
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<strong>Cloning and characterization of a human regulator of nonsense transcript stability. (Abstract)</strong>
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Am. J. Hum. Genet. 59 (suppl.): A32 only, 1996.
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Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Kendzior, R. J., Jr., Dietz, H. C.
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<strong>Mammalian orthologues of a yeast regulator of nonsense transcript stability.</strong>
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Proc. Nat. Acad. Sci. 93: 10928-10932, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8855285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8855285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8855285" 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.93.20.10928" target="_blank">Full Text</a>]
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<a id="Sun1998" class="mim-anchor"></a>
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Sun, X., Perlick, H. A., Dietz, H. C., Maquat, L. E.
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<strong>A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells.</strong>
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Proc. Nat. Acad. Sci. 95: 10009-10014, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9707591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9707591</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9707591[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=9707591" 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.95.17.10009" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Ada Hamosh - updated : 08/29/2014
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Patricia A. Hartz - updated : 3/15/2011<br>Patricia A. Hartz - updated : 6/5/2008<br>Patricia A. Hartz - updated : 4/23/2007<br>Stylianos E. Antonarakis - updated : 2/16/2005<br>Ada Hamosh - updated : 11/22/2004<br>Ada Hamosh - updated : 10/18/2002<br>George E. Tiller - updated : 3/12/2001<br>Victor A. McKusick - updated : 11/5/1998<br>Rebekah S. Rasooly - updated : 7/23/1998
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Mark H. Paalman : 11/18/1996
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alopez : 09/23/2019
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alopez : 08/29/2014<br>mgross : 10/7/2013<br>mgross : 3/17/2011<br>terry : 3/15/2011<br>mgross : 3/2/2011<br>mgross : 3/2/2011<br>alopez : 6/25/2008<br>terry : 6/5/2008<br>mgross : 4/23/2007<br>mgross : 2/16/2005<br>tkritzer : 11/23/2004<br>terry : 11/22/2004<br>alopez : 10/21/2002<br>alopez : 10/21/2002<br>terry : 10/18/2002<br>cwells : 3/27/2001<br>cwells : 3/12/2001<br>cwells : 3/7/2001<br>carol : 12/3/1998<br>carol : 11/16/1998<br>terry : 11/13/1998<br>terry : 11/5/1998<br>alopez : 7/23/1998<br>mark : 2/11/1997<br>mark : 12/30/1996<br>mark : 12/9/1996<br>mark : 12/9/1996<br>terry : 12/5/1996<br>terry : 11/22/1996<br>mark : 11/18/1996<br>mark : 9/18/1996<br>mark : 9/18/1996
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<strong>*</strong> 601430
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UPF1 RNA HELICASE AND ATPase; UPF1
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UPF1, YEAST, HOMOLOG OF<br />
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HUPF1<br />
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REGULATOR OF NONSENSE TRANSCRIPTS 1; RENT1
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<strong><em>HGNC Approved Gene Symbol: UPF1</em></strong>
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Cytogenetic location: 19p13.11
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<span class="small">(from NCBI)</span>
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<p>UPF1 is a helicase that shows RNA-dependent ATPase and 5-prime-to-3-prime RNA helicase activities. The ATPase activity of UPF1 is critical to the nonsense-mediated RNA decay (NMD) pathway, which targets mRNAs with premature termination codons for rapid degradation (summary by Franks et al., 2010). </p>
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<strong>Cloning and Expression</strong>
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<p>Perlick et al. (1996) noted that at least 3 transacting factors (Upf1-3) are required for NMD in yeast. They identified a human cDNA encoding a protein with strong homology to Upf1 that they termed RENT1. Although divergence exists at the extreme N and C termini of the human and yeast polypeptides, the large central region of the protein shows 58% residue identity and 80% conservation. Perlick et al. (1996) stated that RENT1 is the first identified mammalian protein that contains all of the putative functional elements found in Upf1, including zinc finger-like nucleotide-binding domains and all the motifs common to members of helicase superfamily I. By cloning of the mouse gene and subsequent alignment of the sequences for all related helicases, Perlick et al. (1996) demonstrated that RENT1, Upf1, Mov10, and Sen1 define a distinct subset within the superfamily. As expected for an essential component of the apparently ubiquitous NMD pathway, RENT1 was detected in all tissues tested. </p><p>Independently, Applequist et al. (1997) isolated cDNAs encoding RENT1, which they named HUPF1 (human Upf1 protein). They stated that HUPF1 encodes a predicted 1,118-amino acid protein. Western blot analysis of human cell extracts showed that HUPF1 migrated as a 130-kD protein. Using immunofluorescence, Applequist et al. (1997) found that human and mouse HUPF1, like yeast Upf1, localized in the cytoplasm but not in the nucleus. Northern blot analysis detected a predominant 5.5-kb HUPF1 mRNA and a minor 3.7-kb HUPF1 mRNA in various human cell lines. </p>
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<strong>Gene Function</strong>
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<p>Perlick et al. (1996) found that expression of a chimeric protein containing the central region of human RENT1 flanked by the extreme N and C termini of yeast Upf1 complemented the Upf1-deficient growth phenotype in yeast. These data demonstrated that RENT1 is a mammalian ortholog of Upf1.</p><p>Sun et al. (1998) provided evidence for a factor that functions to eliminate the production of nonsense-containing RNAs in mammalian cells. They identified the factor, variously referred to as RENT1 and HUPF1, by isolating cDNA for a human homolog of S. cerevisiae Upf1p, which is a group I RNA helicase that functions in the nonsense-mediated decay of mRNA in yeast. Using monkey COS cells and human HeLa cells, Sun et al. (1998) demonstrated that expression of human Upf1 protein harboring an arginine-to-cysteine mutation at residue 844 within the RNA helicase domain acts in a dominant-negative fashion to abrogate the decay of nonsense-containing mRNA that takes place in association with nuclei or in the cytoplasm. These findings provided evidence that nonsense-mediated mRNA decay is related mechanistically in yeast and in mammalian cells, regardless of the cellular site of decay. </p><p>Mendell et al. (2002) assessed the role of factors essential for NMD in nonsense-mediated altered splicing (NAS) with the use of RNA interference in mammalian cells. Inhibition of RENT1 expression abrogated both NMD and NAS of nonsense T-cell receptor beta (TCRB; see 186930) transcripts. In contrast, inhibition of RENT2 (UPF2; 605529) expression did not disrupt NAS despite achieving comparable stabilization of nonsense transcripts. Mendell et al. (2002) also demonstrated that NAS and NMD are genetically separable functions of RENT1. Mendell et al. (2002) demonstrated that RENT1 enters the nucleus, where it may directly influence early events in mRNA biogenesis. Mendell et al. (2002) concluded that their results provide compelling evidence that NAS relies on a component of the nonsense surveillance machinery but is not an indirect consequence of NMD. </p><p>Using immunoprecipitation and immunodepletion experiments, Ohnishi et al. (2003) showed that SMG5 (610962) and SMG7 (610964) associated with a hyperphosphorylated form of UPF1, and that SMG5 was involved in UPF1 dephosphorylation by the protein phosphatase-2A (PP2A; see 176915) complex. SMG5 mutants that interfered with UPF1 dephosphorylation also inhibited nonsense-mediated mRNA decay in a dominant-negative manner. </p><p>Amrani et al. (2004) used a primer extension inhibition (toeprinting) assay to delineate ribosome positioning and found that premature translation termination in yeast extracts is indeed aberrant. Ribosomes encountering premature UAA or UGA codons in the Can1 mRNA failed to release and, instead, migrated to upstream AUGs. This anomaly depended upon prior nonsense codon recognition and was eliminated in extracts derived from cells lacking the principal NMD factor Upf1p, or by flanking the nonsense codon with a normal 3-prime untranslated region (UTR). Tethered poly(A)-binding protein (Pab1p), used as a mimic of a normal 3-prime UTR, recruited the termination factor Sup35p (eRF3) and stabilized nonsense-containing mRNAs. Amrani et al. (2004) concluded that efficient termination and mRNA stability are dependent on a properly configured 3-prime UTR. </p><p>Staufen-1 (STAU1; 601716) is an RNA-binding protein that is thought to function in mRNA transport and translational control. Kim et al. (2005) described an mRNA decay mechanism involving STAU1, UPF1, and a termination codon. Unlike nonsense-mediated decay, this mechanism did not involve pre-mRNA splicing and occurred when UPF2 or UPF3X (UPF3B; 300298) was downregulated. STAU1 bound directly to UPF1 and elicited mRNA decay when tethered downstream of a termination codon. STAU1 also interacted with the 3-prime UTR of ADP-ribosylation factor-1 (ARF1; 103180) mRNA. Accordingly, downregulation of either STAU1 or UPF1 increased ARF1 mRNA stability. These findings suggested that ARF1 mRNA is a natural target for STAU1-mediated decay, and data indicated that other mRNAs are also natural targets. </p><p>In crosslinking and coimmunoprecipitation experiments on HeLa cell nuclear extracts, Agranat et al. (2008) showed that ADAR1 (146920) associated with the RNA surveillance protein HUPF1 in the supraspliceosome, a 21-megadalton nuclear ribonucleoprotein complex. The interaction did not depend on RNA. Knockdown of ADAR1 with small interfering RNA upregulated the expression of 4 of 6 genes that undergo both A-to-I editing by ADARs and degradation via HUPF1. </p><p>Cellular mRNAs exist as messenger ribonucleoprotein (mRNP) complexes containing the mRNA and associated proteins. Franks et al. (2010) found that small interfering RNA-mediated knockdown of UPF1 in HeLa cells or expression of an ATPase-deficient UPF1 mutant caused accumulation of an NMD mRNP in cytoplasmic processing bodies. In the absence of UPF1 ATPase activity, the NMD factors SMG5, SMG6 (610963), and SMG7 colocalized with a partially degraded 3-prime mRNA intermediate in cytoplasmic processing bodies. ATPase-deficient UPF1 copurified with multiple NMD factors, including XRN1 (607994) and PABPC1 (604679), in addition to SMG5, SMG6, and SMG7, and with exon junction complex components (see 608546). Franks et al. (2010) concluded that UPF1 ATPase activity is required for disassembly of mRNP complexes, and that disassembly of these complexes is required for degradation of mRNA by XRN1. </p>
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<strong>Mapping</strong>
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<p>Perlick et al. (1996) mapped the mouse Rent1 gene to mouse chromosome 8 by analysis of the Jackson Laboratory BSS backcross DNA panel. The region of mouse chromosome 8 was known to have homology of synteny to 19p13.2-p13.11; the human probe detected human chromosome 19-specific restriction fragments within the NIGMS human/rodent somatic cell hybrid panel. Perlick et al. (1996) noted that although tumorigenic or accelerated aging phenotypes might be predicted to result from the somatic accumulation of nonsense or frameshift mutations on an NMD-deficient background, no apparently relevant phenotypes have been linked to the map positions for the murine or human genes on syntenic regions of chromosomes 8 and 19p13.2-p13.11, respectively. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>Somatic Mutation in Pancreatic Adenosquamous Carcinoma</em></strong></p><p>
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Liu et al. (2014) identified mutations in the UPF1 gene in pancreatic adenosquamous carcinoma (ASC) tumors (see 260350) from 18 of 23 patients. Liu et al. (2014) also tested 3 other NMD genes--UPF2 (605529), UPF3A (605530), and UPF3B (300298)--but did not detect mutations. The UPF1 mutations were somatic in origin, as they were not present in matched normal pancreatic tissues from the 18 patients. UPF1 mutations were also not detectable in 29 non-ASC pancreatic tumors and in 21 lung squamous cell carcinomas that were tested. Liu et al. (2014) concluded that UPF1 mutations are a unique signature of most pancreatic adenosquamous carcinomas. </p>
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<strong>Animal Model</strong>
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<p>Medghalchi et al. (2001) explored the consequences of loss of NMD function in vertebrates through targeted disruption of the Rent1 gene, which encodes a mammalian ortholog of Upf1p, in murine embryonic stem cells. Mice heterozygous for the targeted allele showed no apparent phenotypic abnormalities but homozygosity was never observed, demonstrating that Rent1 is essential for embryonic viability. Homozygous targeted embryos showed complete loss of NMD and were viable in the preimplantation period, but resorbed shortly after implantation. Furthermore, Rent1 -/- blastocysts isolated at 3.5 days postcoitum underwent apoptosis in culture following a brief phase of cellular expansion. The authors hypothesized that NMD is essential for mammalian cellular viability and supports a critical role for the pathway in the regulated expression of selected physiologic transcripts. </p>
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<strong>REFERENCES</strong>
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Ada Hamosh - updated : 08/29/2014<br>Patricia A. Hartz - updated : 3/15/2011<br>Patricia A. Hartz - updated : 6/5/2008<br>Patricia A. Hartz - updated : 4/23/2007<br>Stylianos E. Antonarakis - updated : 2/16/2005<br>Ada Hamosh - updated : 11/22/2004<br>Ada Hamosh - updated : 10/18/2002<br>George E. Tiller - updated : 3/12/2001<br>Victor A. McKusick - updated : 11/5/1998<br>Rebekah S. Rasooly - updated : 7/23/1998
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