2535 lines
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Entry
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- *601742 - TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28
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- OMIM
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<p>
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<span class="h4">*601742</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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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#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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<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 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=ENSG00000130726;t=ENST00000253024" 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=10155" 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=601742" 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=ENSG00000130726;t=ENST00000253024" 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_005762" 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_005762" 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=601742" 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=03445&isoform_id=03445_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/TRIM28" 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/951332,1524109,1699027,1930059,3183179,5032179,13436401,31544959,33873597,119593011,119593012,119593013,189069230" 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/Q13263" 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=10155" 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=ENSG00000130726;t=ENST00000253024" 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=TRIM28" 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=TRIM28" 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+10155" 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/TRIM28" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:10155" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/10155" 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=ENST00000253024.10&hgg_start=58544064&hgg_end=58550715&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601742[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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<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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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601742[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000130726" 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=TRIM28" 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=TRIM28" 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=TRIM28&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/PA38131" 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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 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:16384" 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://www.mousephenotype.org/data/genes/MGI:109274" 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/TRIM28#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:109274" 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/10155/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=10155" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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<div><a href="https://reactome.org/content/query?q=TRIM28&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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<div>
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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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601742
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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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TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28
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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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KRAB-ASSOCIATED PROTEIN 1; KAP1<br />
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TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-BETA; TIF1B
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</span>
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</h4>
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<div>
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<br />
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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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=TRIM28" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRIM28</a></em></strong>
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</p>
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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/19/1229?start=-3&limit=10&highlight=1229">19q13.43</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:58544064-58550715&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'})">19:58,544,064-58,550,715</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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</p>
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<div>
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<br />
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>TRIM28 is a scaffold protein involved in gene silencing, cell growth and differentiation, pluripotency, neoplastic transformation, apoptosis, DNA repair, and maintenance of genomic integrity. Sumoylated TRIM28 can assemble epigenetic machinery for gene silencing, while phosphorylated TRIM28 is involved in DNA repair (review by <a href="#6" class="mim-tip-reference" title="Iyengar, S., Farnham, P. J. <strong>KAP1 protein: an enigmatic master regulator of the genome.</strong> J. Biol. Chem. 286: 26267-26276, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21652716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21652716</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21652716[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/10.1074/jbc.R111.252569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21652716">Iyengar and Farnham, 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21652716" 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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</span>
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<div>
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<br />
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</div>
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<div>
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<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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<span class="mim-text-font">
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<p>The KRAB (Kruppel-associated box) domain is a transcriptional repression domain encoded by many transcription factors, including many zinc finger transcription factors (e.g., ZNF45; <a href="/entry/194554">194554</a>). <a href="#4" class="mim-tip-reference" title="Friedman, J. R., Fredericks, W. J., Jensen, D. E., Speicher, D. W., Huang, X.-P., Neilson, E. G., Rauscher, F. J., III. <strong>KAP-1, a novel corepressor for the highly conserved KRAB repression domain.</strong> Genes Dev. 10: 2067-2078, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8769649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8769649</a>] [<a href="https://doi.org/10.1101/gad.10.16.2067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8769649">Friedman et al. (1996)</a> used affinity chromatography to identify cellular factors that could bind KRAB domains. They purified a 100-kD protein with binding activity and obtained a polypeptide sequence. A PCR product encoding this sequence was used as a probe to clone the gene from a human testis cDNA library. This gene, TRIM28, which the authors termed KAP1, encodes an 835-amino acid polypeptide containing a RING finger, B boxes, and a PHD finger. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8769649" 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 the yeast 2-hybrid system to search for proteins that could interact with the KRAB domain of ZNF10 (<a href="/entry/194538">194538</a>), <a href="#10" class="mim-tip-reference" title="Moosmann, P., Georgiev, O., Le Douarin, B., Bourquin, J.-P., Schaffner, W. <strong>Transcriptional repression by RING finger protein TIF1-beta that interacts with the KRAB repressor domain of KOX1.</strong> Nucleic Acids Res. 24: 4859-4867, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9016654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9016654</a>] [<a href="https://doi.org/10.1093/nar/24.24.4859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9016654">Moosmann et al. (1996)</a> isolated a cDNA encoding TRIM28, which they called TIF1-beta, from a human peripheral blood lymphocyte cDNA library. The TIF1-beta protein is 31% identical to that of mouse nuclear factor Tif1 (TRIM24; <a href="/entry/603406">603406</a>). Northern blot analysis revealed a transcript of approximately 3.3 kb in all tissues tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9016654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a yeast 2-hybrid screen to find molecules that could interact with the KRAB-A domain, <a href="#7" class="mim-tip-reference" title="Kim, S.-S., Chen, Y.-M., O'Leary, E., Witzgall, R., Vidal, M., Bonventre, J. V. <strong>A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins.</strong> Proc. Nat. Acad. Sci. 93: 15299-15304, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8986806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8986806</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=8986806[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.93.26.15299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8986806">Kim et al. (1996)</a> isolated and cloned Krip1, the mouse homolog of KAP1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8986806" 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 the TIF1 proteins, <a href="#13" class="mim-tip-reference" title="Venturini, L., You, J., Stadler, M., Galien, R., Lallemand, V., Koken, M. H. M., Mattei, M. G., Ganser, A., Chambon, P., Losson, R., de The, H. <strong>TIF1-gamma, a novel member of the transcriptional intermediary factor 1 family.</strong> Oncogene 18: 1209-1217, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10022127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10022127</a>] [<a href="https://doi.org/10.1038/sj.onc.1202655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10022127">Venturini et al. (1999)</a> identified a 25-amino acid stretch rich in tryptophan and phenylalanine located downstream of the coiled-coil motif. This 25-amino acid stretch is highly conserved between TIF1A, TIF1B, and TIF1G (<a href="/entry/605769">605769</a>), and the authors termed this the TIF1 signature sequence, or TSS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10022127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By immunofluorescence analysis, <a href="#9" class="mim-tip-reference" title="Messerschmidt, D. M., de Vries, W., Ito, M., Solter, D., Ferguson-Smith, A., Knowles, B. B. <strong>Trim28 is required for epigenetic stability during mouse oocyte to embryo transition.</strong> Science 335: 1499-1502, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22442485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22442485</a>] [<a href="https://doi.org/10.1126/science.1216154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22442485">Messerschmidt et al. (2012)</a> found that Trim28 was highly expressed in mouse oocytes and early embryos. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22442485" 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>By fluorescence in situ hybridization, <a href="#10" class="mim-tip-reference" title="Moosmann, P., Georgiev, O., Le Douarin, B., Bourquin, J.-P., Schaffner, W. <strong>Transcriptional repression by RING finger protein TIF1-beta that interacts with the KRAB repressor domain of KOX1.</strong> Nucleic Acids Res. 24: 4859-4867, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9016654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9016654</a>] [<a href="https://doi.org/10.1093/nar/24.24.4859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9016654">Moosmann et al. (1996)</a> mapped the TIF1-beta gene to 19q13.4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9016654" 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="#4" class="mim-tip-reference" title="Friedman, J. R., Fredericks, W. J., Jensen, D. E., Speicher, D. W., Huang, X.-P., Neilson, E. G., Rauscher, F. J., III. <strong>KAP-1, a novel corepressor for the highly conserved KRAB repression domain.</strong> Genes Dev. 10: 2067-2078, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8769649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8769649</a>] [<a href="https://doi.org/10.1101/gad.10.16.2067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8769649">Friedman et al. (1996)</a> identified KAP1 as a KRAB-binding corepressor. When KAP1 was expressed in COS cells, it bound a wildtype KRAB domain, but not mutant KRAB domains that had no repression ability. Furthermore, KAP1 formed a complex with a KRAB-domain transcription factor and increased the efficiency of KRAB-mediated repression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8769649" 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="#10" class="mim-tip-reference" title="Moosmann, P., Georgiev, O., Le Douarin, B., Bourquin, J.-P., Schaffner, W. <strong>Transcriptional repression by RING finger protein TIF1-beta that interacts with the KRAB repressor domain of KOX1.</strong> Nucleic Acids Res. 24: 4859-4867, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9016654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9016654</a>] [<a href="https://doi.org/10.1093/nar/24.24.4859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9016654">Moosmann et al. (1996)</a> demonstrated that TIF1-beta repressed transcription only when bound to DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9016654" 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 luciferase analysis, <a href="#13" class="mim-tip-reference" title="Venturini, L., You, J., Stadler, M., Galien, R., Lallemand, V., Koken, M. H. M., Mattei, M. G., Ganser, A., Chambon, P., Losson, R., de The, H. <strong>TIF1-gamma, a novel member of the transcriptional intermediary factor 1 family.</strong> Oncogene 18: 1209-1217, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10022127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10022127</a>] [<a href="https://doi.org/10.1038/sj.onc.1202655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10022127">Venturini et al. (1999)</a> determined that TIF1B, like TIF1A and TIF1G, repressed transcription by binding through the TSS to promoter regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10022127" 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>Moloney murine leukemia virus (MMLV) replication is restricted in embryonic carcinoma and embryonic stem cells. Using EMSA of MMLV-infected mouse embryonic cell lines, <a href="#14" class="mim-tip-reference" title="Wolf, D., Goff, S. P. <strong>TRIM28 mediates primer binding site-targeted silencing of murine leukemia virus in embryonic cells.</strong> Cell 131: 46-57, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17923087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17923087</a>] [<a href="https://doi.org/10.1016/j.cell.2007.07.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17923087">Wolf and Goff (2007)</a> purified the repressor-binding site complex and identified Trim28 as an integral component of the complex. RNA interference-mediated knockdown of Trim28 in mouse embryonic carcinoma and embryonic stem cells relieved the restriction on MMLV replication, and Trim28 was bound to the primer-binding site when restriction took place. <a href="#14" class="mim-tip-reference" title="Wolf, D., Goff, S. P. <strong>TRIM28 mediates primer binding site-targeted silencing of murine leukemia virus in embryonic cells.</strong> Cell 131: 46-57, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17923087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17923087</a>] [<a href="https://doi.org/10.1016/j.cell.2007.07.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17923087">Wolf and Goff (2007)</a> concluded that TRIM family members are involved in retroviral restriction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17923087" 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="#11" class="mim-tip-reference" title="Tian, C., Xing, G., Xie, P., Lu, K., Nie, J., Wang, J., Li, L., Gao, M., Zhang, L., He, F. <strong>KRAB-type zinc-finger protein Apak specifically regulates p53-dependent apoptosis.</strong> Nature Cell Biol. 11: 580-591, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377469</a>] [<a href="https://doi.org/10.1038/ncb1864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19377469">Tian et al. (2009)</a> found that APAK (ZNF420; <a href="/entry/617216">617216</a>) interacted with p53 (TP53; <a href="/entry/191170">191170</a>) and KAP1 via its zinc fingers and KRAB domain, respectively, in unstressed human cells. KAP1 recruited ATM (<a href="/entry/607585">607585</a>) and HDAC1 (<a href="/entry/601241">601241</a>) to attenuate acetylation of p53, thereby repressing p53 activity and expression of proapoptotic genes. APAK, KAP1, and ATM did not regulate p53 targets that induce cell cycle arrest. In response to DNA damage, ATM phosphorylated APAK on ser68, causing dissociation of APAK and HDAC1 from p53, allowing expression of proapoptotic p53 target genes and apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19377469" 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="Matsui, T., Leung, D., Miyashita, H., Maksakova, I. A., Miyachi, H., Kimura, H., Tachibana, M., Lorincz, M. C., Shinkai, Y. <strong>Proviral silencing in embryonic stem cells requires the histone methyltransferase ESET.</strong> Nature 464: 927-931, 2010. Note: Erratum: Nature 513: 128 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164836</a>] [<a href="https://doi.org/10.1038/nature08858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164836">Matsui et al. (2010)</a> showed that the H3K9 methyltransferase ESET (<a href="/entry/604396">604396</a>) and KAP1 are required for H3K9 trimethylation (H3K9me3) and silencing of endogenous and introduced retroviruses specifically in mouse embryonic stem (ES) cells. Furthermore, whereas ESET enzymatic activity is crucial for binding heterochromatin protein-1 (HP1; <a href="/entry/604478">604478</a>) and efficient proviral silencing, the H4K20 methyltransferases Suv420h1 (<a href="/entry/610881">610881</a>) and Suv420h2 (<a href="/entry/613198">613198</a>) are dispensable for silencing. Notably, in mouse ES cells null for 3 DNA methyltransferases (Dnmt1, <a href="/entry/126375">126375</a>; Dnmt3a, <a href="/entry/602769">602769</a>; Dnmt3b, <a href="/entry/602900">602900</a>), ESET and KAP1 binding and ESET-mediated H3K9me3 were maintained and ERVs (endogenous retroviruses) were minimally derepressed. <a href="#8" class="mim-tip-reference" title="Matsui, T., Leung, D., Miyashita, H., Maksakova, I. A., Miyachi, H., Kimura, H., Tachibana, M., Lorincz, M. C., Shinkai, Y. <strong>Proviral silencing in embryonic stem cells requires the histone methyltransferase ESET.</strong> Nature 464: 927-931, 2010. Note: Erratum: Nature 513: 128 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164836</a>] [<a href="https://doi.org/10.1038/nature08858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20164836">Matsui et al. (2010)</a> proposed that a DNA methylation-independent pathway involving KAP1 and ESET/ESET-mediated H3K9me3 is required for proviral silencing during the period early in embryogenesis when DNA methylation is dynamically reprogrammed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164836" 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>The human immunodeficiency virus (HIV)-1 enzyme integrase (IN) catalyzes integration of viral cDNA into the host genome and is positively regulated by acetylation. Using yeast 2-hybrid and coimmunoprecipitation analyses, <a href="#1" class="mim-tip-reference" title="Allouch, A., Di Primio, C., Alpi, E., Lusic, M., Arosio, D., Giacca, M., Cereseto, A. <strong>The TRIM family protein KAP1 inhibits HIV-1 integration.</strong> Cell Host Microbe 9: 484-495, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21669397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21669397</a>] [<a href="https://doi.org/10.1016/j.chom.2011.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21669397">Allouch et al. (2011)</a> found that KAP1 bound acetylated IN. KAP1 induced IN deacetylation through the formation of a complex with HDAC1. Modulation of intracellular KAP1 levels in various cell types, including T cells, the primary HIV-1 target, revealed that KAP1 curtailed viral infectivity by selectively affecting HIV-1 integration. <a href="#1" class="mim-tip-reference" title="Allouch, A., Di Primio, C., Alpi, E., Lusic, M., Arosio, D., Giacca, M., Cereseto, A. <strong>The TRIM family protein KAP1 inhibits HIV-1 integration.</strong> Cell Host Microbe 9: 484-495, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21669397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21669397</a>] [<a href="https://doi.org/10.1016/j.chom.2011.05.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21669397">Allouch et al. (2011)</a> concluded that acetylation of IN is a crucial step in the viral infectious cycle and that KAP1 is a cellular factor that restricts HIV-1 infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21669397" 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="Barde, I., Rauwel, B., Marin-Florez, R. M., Corsinotti, A., Laurenti, E., Verp, S., Offner, S., Marquis, J., Kapopoulou, A., Vanicek, J., Trono, D. <strong>A KRAB/KAP1-miRNA cascade regulates erythropoiesis through stage-specific control of mitophagy.</strong> Science 340: 350-353, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23493425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23493425</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23493425[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/10.1126/science.1232398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23493425">Barde et al. (2013)</a> found that in mice, hematopoietic-restricted deletion of Kap1 results in severe hyperproliferative anemia. Kap1-deleted erythroblasts failed to induce mitophagy-associated genes and retained mitochondria. This was due to persistent expression of microRNAs targeting mitophagy transcripts, itself secondary to a lack of repression by stage-specific KRAB zinc finger proteins. The KRAB/KAP1-miRNA regulatory cascade is evolutionarily conserved, as it also controls mitophagy during human erythropoiesis. <a href="#2" class="mim-tip-reference" title="Barde, I., Rauwel, B., Marin-Florez, R. M., Corsinotti, A., Laurenti, E., Verp, S., Offner, S., Marquis, J., Kapopoulou, A., Vanicek, J., Trono, D. <strong>A KRAB/KAP1-miRNA cascade regulates erythropoiesis through stage-specific control of mitophagy.</strong> Science 340: 350-353, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23493425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23493425</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23493425[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/10.1126/science.1232398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23493425">Barde et al. (2013)</a> concluded that a multilayered transcription regulatory system is present, in which protein and RNA-based repressors are superimposed in combinatorial fashion to govern the timely triggering of an important differentiation event. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23493425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By yeast 2-hybrid and coimmunoprecipitation analyses, <a href="#5" class="mim-tip-reference" title="Huang, C., Martin, S., Pfleger, C., Du, J., Buckner, J. H., Bluestone, J. A., Riley, J. L., Ziegler, S. F. <strong>Cutting edge: a novel, human-specific interacting protein couples FOXP3 to a chromatin-remodeling complex that contains KAP1/TRIM28.</strong> J. Immun. 190: 4470-4473, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543754</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543754[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/10.4049/jimmunol.1203561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543754">Huang et al. (2013)</a> showed that the proline-rich N terminus of FOXP3 (<a href="/entry/300292">300292</a>) interacted with the C terminus of FIK, an isoform of ZFP90 (<a href="/entry/609451">609451</a>). Expression of FOXP3 and FIK in Jurkat T cells led to decreased expression of IL2 (<a href="/entry/147680">147680</a>) and IFNG (<a href="/entry/147570">147570</a>), and chromatin immunoprecipitation analysis showed that FOXP3, FIK, and KAP1, which binds to the A box within the KRAB domain of FIK, were present on the same site on the IL2 and IFNG promoters. FIK was highly expressed in Tregs, and disruption of the FOXP3-FIK-KAP1 complex in Tregs abrogated their suppressor activity. <a href="#5" class="mim-tip-reference" title="Huang, C., Martin, S., Pfleger, C., Du, J., Buckner, J. H., Bluestone, J. A., Riley, J. L., Ziegler, S. F. <strong>Cutting edge: a novel, human-specific interacting protein couples FOXP3 to a chromatin-remodeling complex that contains KAP1/TRIM28.</strong> J. Immun. 190: 4470-4473, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543754</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543754[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/10.4049/jimmunol.1203561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23543754">Huang et al. (2013)</a> concluded that FIK has a critical role in regulating FOXP3 activity and Treg function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23543754" 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="#12" class="mim-tip-reference" title="Van Meter, M., Kashyap, M., Rezazadeh, S., Geneva, A. J., Morello, T. D., Seluanov, A., Gorbunova, V. <strong>SIRT6 represses LINE1 retrotransposons by ribosylating KAP1 but this repression fails with stress and age.</strong> Nature Commun. 5: 5011, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25247314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25247314</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25247314[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/ncomms6011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25247314">Van Meter et al. (2014)</a> reported that the longevity-regulating protein SIRT6 (<a href="/entry/606211">606211</a>) is a powerful repressor of L1 (see LRE1, <a href="/entry/151626">151626</a>) activity. Specifically, SIRT6 binds to the 5-prime UTR of L1 loci, where it mono-ADP ribosylates the nuclear corepressor protein KAP1 and facilitates KAP1 interaction with the heterochromatin factor HP1, thereby contributing to the packaging of L1 elements into transcriptionally repressive heterochromatin. During the course of aging, and also in response to DNA damage, however, <a href="#12" class="mim-tip-reference" title="Van Meter, M., Kashyap, M., Rezazadeh, S., Geneva, A. J., Morello, T. D., Seluanov, A., Gorbunova, V. <strong>SIRT6 represses LINE1 retrotransposons by ribosylating KAP1 but this repression fails with stress and age.</strong> Nature Commun. 5: 5011, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25247314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25247314</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25247314[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/ncomms6011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25247314">Van Meter et al. (2014)</a> found that SIRT6 is depleted from L1 loci, allowing the activation of these previously silenced retroelements. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25247314" 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="#3" class="mim-tip-reference" title="Elsasser, S. J., Noh, K.-M., Diaz, N., Allis, C. D., Banaszynski, L. A. <strong>Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells.</strong> Nature 522: 240-244, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938714</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25938714[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/nature14345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25938714">Elsasser et al. (2015)</a> showed that the replacement histone variant H3.3 (<a href="/entry/601128">601128</a>) is enriched at class I and class II endogenous retroviral elements (ERVs), notably those of the early transposon/MusD family and intracisternal A-type particles. Deposition at a subset of these elements is dependent on the H3.3 chaperone complex containing ATRX (<a href="/entry/300032">300032</a>) and DAXX (<a href="/entry/603186">603186</a>). <a href="#3" class="mim-tip-reference" title="Elsasser, S. J., Noh, K.-M., Diaz, N., Allis, C. D., Banaszynski, L. A. <strong>Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells.</strong> Nature 522: 240-244, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938714</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25938714[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/nature14345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25938714">Elsasser et al. (2015)</a> demonstrated that recruitment of DAXX, H3.3, and KAP1 to ERVs is codependent and occurs upstream of ESET (SETDB1; <a href="/entry/604396">604396</a>), linking H3.3 to ERV-associated H3K9me3. Importantly, H3K9me3 is reduced at ERVs upon H3.3 deletion, resulting in derepression and dysregulation of adjacent, endogenous genes, along with increased retrotransposition of intracisternal A-type particles. <a href="#3" class="mim-tip-reference" title="Elsasser, S. J., Noh, K.-M., Diaz, N., Allis, C. D., Banaszynski, L. A. <strong>Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells.</strong> Nature 522: 240-244, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938714</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25938714[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/nature14345" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25938714">Elsasser et al. (2015)</a> concluded that their study identifies a unique heterochromatin state marked by the presence of both H3.3 and H3K9me3, and establishes an important role for H3.3 in control of ERV retrotransposition in embryonic stem cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25938714" 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="#9" class="mim-tip-reference" title="Messerschmidt, D. M., de Vries, W., Ito, M., Solter, D., Ferguson-Smith, A., Knowles, B. B. <strong>Trim28 is required for epigenetic stability during mouse oocyte to embryo transition.</strong> Science 335: 1499-1502, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22442485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22442485</a>] [<a href="https://doi.org/10.1126/science.1216154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22442485">Messerschmidt et al. (2012)</a> deleted Trim28 from mouse oocytes that were then fertilized by wildtype males. Embryos derived from this mating lacked both Trim28 RNA and protein until transcription from the paternal allele ensued after zygotic gene activation at the early 2-cell stage. Despite normal development to the blastocyst stage, highly pleiotropic defects resulted in complete lack of live births. Observed defects included edemas, craniofacial malformations, hemorrhage, and complete and hemianophthalmia. Microarray analysis revealed that maternal Trim28 mutants showed misregulation of the H19 (<a href="/entry/103280">103280</a>)/Igf2 (<a href="/entry/147470">147470</a>) imprinted cluster. Examination of the methylation status of the H19/Igf2 cluster suggested that maternal Trim28 protects the H19 differentially methylated region (DMR) on the paternal chromosome from aberrant DNA demethylation. Other DMRs were variably demethylated in mutant embryos, which likely contributed to the highly variable phenotype. <a href="#9" class="mim-tip-reference" title="Messerschmidt, D. M., de Vries, W., Ito, M., Solter, D., Ferguson-Smith, A., Knowles, B. B. <strong>Trim28 is required for epigenetic stability during mouse oocyte to embryo transition.</strong> Science 335: 1499-1502, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22442485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22442485</a>] [<a href="https://doi.org/10.1126/science.1216154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22442485">Messerschmidt et al. (2012)</a> concluded that TRIM28 is required to maintain genomic imprints. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22442485" 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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Allouch, A., Di Primio, C., Alpi, E., Lusic, M., Arosio, D., Giacca, M., Cereseto, A.
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<strong>The TRIM family protein KAP1 inhibits HIV-1 integration.</strong>
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Cell Host Microbe 9: 484-495, 2011.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21669397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21669397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21669397" 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.chom.2011.05.004" target="_blank">Full Text</a>]
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Barde, I., Rauwel, B., Marin-Florez, R. M., Corsinotti, A., Laurenti, E., Verp, S., Offner, S., Marquis, J., Kapopoulou, A., Vanicek, J., Trono, D.
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<strong>A KRAB/KAP1-miRNA cascade regulates erythropoiesis through stage-specific control of mitophagy.</strong>
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Science 340: 350-353, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23493425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23493425</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23493425[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=23493425" 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.1232398" target="_blank">Full Text</a>]
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<strong>Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells.</strong>
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Nature 522: 240-244, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25938714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25938714</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25938714[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=25938714" 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/nature14345" target="_blank">Full Text</a>]
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Friedman, J. R., Fredericks, W. J., Jensen, D. E., Speicher, D. W., Huang, X.-P., Neilson, E. G., Rauscher, F. J., III.
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<strong>KAP-1, a novel corepressor for the highly conserved KRAB repression domain.</strong>
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Genes Dev. 10: 2067-2078, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8769649/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8769649</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8769649" 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/10.1101/gad.10.16.2067" target="_blank">Full Text</a>]
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Huang, C., Martin, S., Pfleger, C., Du, J., Buckner, J. H., Bluestone, J. A., Riley, J. L., Ziegler, S. F.
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<strong>Cutting edge: a novel, human-specific interacting protein couples FOXP3 to a chromatin-remodeling complex that contains KAP1/TRIM28.</strong>
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J. Immun. 190: 4470-4473, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23543754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23543754</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23543754[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=23543754" 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/10.4049/jimmunol.1203561" target="_blank">Full Text</a>]
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Iyengar, S., Farnham, P. J.
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<strong>KAP1 protein: an enigmatic master regulator of the genome.</strong>
|
|
J. Biol. Chem. 286: 26267-26276, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21652716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21652716</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21652716[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=21652716" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.R111.252569" target="_blank">Full Text</a>]
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</p>
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<a id="7" class="mim-anchor"></a>
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<a id="Kim1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kim, S.-S., Chen, Y.-M., O'Leary, E., Witzgall, R., Vidal, M., Bonventre, J. V.
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|
<strong>A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 15299-15304, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8986806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8986806</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=8986806[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=8986806" 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.93.26.15299" target="_blank">Full Text</a>]
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</p>
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|
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<a id="8" class="mim-anchor"></a>
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<a id="Matsui2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Matsui, T., Leung, D., Miyashita, H., Maksakova, I. A., Miyachi, H., Kimura, H., Tachibana, M., Lorincz, M. C., Shinkai, Y.
|
|
<strong>Proviral silencing in embryonic stem cells requires the histone methyltransferase ESET.</strong>
|
|
Nature 464: 927-931, 2010. Note: Erratum: Nature 513: 128 only, 2014.
|
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|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20164836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20164836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20164836" 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/nature08858" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Messerschmidt2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Messerschmidt, D. M., de Vries, W., Ito, M., Solter, D., Ferguson-Smith, A., Knowles, B. B.
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<strong>Trim28 is required for epigenetic stability during mouse oocyte to embryo transition.</strong>
|
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Science 335: 1499-1502, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22442485/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22442485</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22442485" 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.1216154" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Moosmann1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moosmann, P., Georgiev, O., Le Douarin, B., Bourquin, J.-P., Schaffner, W.
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<strong>Transcriptional repression by RING finger protein TIF1-beta that interacts with the KRAB repressor domain of KOX1.</strong>
|
|
Nucleic Acids Res. 24: 4859-4867, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9016654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9016654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9016654" 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/24.24.4859" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Tian2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tian, C., Xing, G., Xie, P., Lu, K., Nie, J., Wang, J., Li, L., Gao, M., Zhang, L., He, F.
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<strong>KRAB-type zinc-finger protein Apak specifically regulates p53-dependent apoptosis.</strong>
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Nature Cell Biol. 11: 580-591, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19377469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19377469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19377469" 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/ncb1864" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Van Meter2014" class="mim-anchor"></a>
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<div class="">
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Van Meter, M., Kashyap, M., Rezazadeh, S., Geneva, A. J., Morello, T. D., Seluanov, A., Gorbunova, V.
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<strong>SIRT6 represses LINE1 retrotransposons by ribosylating KAP1 but this repression fails with stress and age.</strong>
|
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Nature Commun. 5: 5011, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25247314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25247314</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25247314[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=25247314" 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/ncomms6011" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Venturini1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Venturini, L., You, J., Stadler, M., Galien, R., Lallemand, V., Koken, M. H. M., Mattei, M. G., Ganser, A., Chambon, P., Losson, R., de The, H.
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<strong>TIF1-gamma, a novel member of the transcriptional intermediary factor 1 family.</strong>
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Oncogene 18: 1209-1217, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10022127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10022127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10022127" 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/sj.onc.1202655" target="_blank">Full Text</a>]
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Wolf2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wolf, D., Goff, S. P.
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<strong>TRIM28 mediates primer binding site-targeted silencing of murine leukemia virus in embryonic cells.</strong>
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Cell 131: 46-57, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17923087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17923087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17923087" 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.2007.07.026" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/18/2016
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 06/24/2015<br>Ada Hamosh - updated : 1/13/2015<br>Paul J. Converse - updated : 1/17/2014<br>Ada Hamosh - updated : 5/3/2013<br>Patricia A. Hartz - updated : 4/25/2012<br>Patricia A. Hartz - updated : 4/13/2012<br>Paul J. Converse - updated : 3/1/2012<br>Ada Hamosh - updated : 5/26/2010<br>Paul J. Converse - updated : 5/15/2009<br>Paul J. Converse - updated : 3/26/2001<br>Jennifer P. Macke - updated : 4/15/1998<br>Rebekah S. Rasooly - updated : 1/27/1998<br>Victor A. McKusick - updated : 4/28/1997
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</span>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jennifer P. Macke : 4/9/1997
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/15/2021
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<span class="mim-text-font">
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mgross : 11/18/2016<br>carol : 09/20/2016<br>alopez : 06/24/2015<br>alopez : 1/13/2015<br>alopez : 9/15/2014<br>mgross : 2/11/2014<br>mcolton : 1/17/2014<br>alopez : 5/3/2013<br>mgross : 4/25/2012<br>terry : 4/25/2012<br>terry : 4/13/2012<br>mgross : 3/5/2012<br>terry : 3/1/2012<br>alopez : 5/27/2010<br>terry : 5/26/2010<br>mgross : 5/18/2009<br>terry : 5/15/2009<br>alopez : 4/9/2009<br>carol : 10/9/2006<br>cwells : 10/22/2003<br>mgross : 3/26/2001<br>alopez : 11/2/1999<br>dholmes : 4/15/1998<br>dholmes : 4/7/1998<br>alopez : 1/28/1998<br>alopez : 1/27/1998<br>alopez : 4/29/1997<br>alopez : 4/28/1997<br>alopez : 4/15/1997<br>alopez : 4/15/1997<br>alopez : 4/9/1997<br>alopez : 4/9/1997
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<span class="mim-font">
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<strong>*</strong> 601742
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<div>
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<h3>
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<span class="mim-font">
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TRIPARTITE MOTIF-CONTAINING PROTEIN 28; TRIM28
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</span>
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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KRAB-ASSOCIATED PROTEIN 1; KAP1<br />
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TRANSCRIPTIONAL INTERMEDIARY FACTOR 1-BETA; TIF1B
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</span>
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<strong><em>HGNC Approved Gene Symbol: TRIM28</em></strong>
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<strong>
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<em>
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Cytogenetic location: 19q13.43
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:58,544,064-58,550,715 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>TRIM28 is a scaffold protein involved in gene silencing, cell growth and differentiation, pluripotency, neoplastic transformation, apoptosis, DNA repair, and maintenance of genomic integrity. Sumoylated TRIM28 can assemble epigenetic machinery for gene silencing, while phosphorylated TRIM28 is involved in DNA repair (review by Iyengar and Farnham, 2011). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>The KRAB (Kruppel-associated box) domain is a transcriptional repression domain encoded by many transcription factors, including many zinc finger transcription factors (e.g., ZNF45; 194554). Friedman et al. (1996) used affinity chromatography to identify cellular factors that could bind KRAB domains. They purified a 100-kD protein with binding activity and obtained a polypeptide sequence. A PCR product encoding this sequence was used as a probe to clone the gene from a human testis cDNA library. This gene, TRIM28, which the authors termed KAP1, encodes an 835-amino acid polypeptide containing a RING finger, B boxes, and a PHD finger. </p><p>Using the yeast 2-hybrid system to search for proteins that could interact with the KRAB domain of ZNF10 (194538), Moosmann et al. (1996) isolated a cDNA encoding TRIM28, which they called TIF1-beta, from a human peripheral blood lymphocyte cDNA library. The TIF1-beta protein is 31% identical to that of mouse nuclear factor Tif1 (TRIM24; 603406). Northern blot analysis revealed a transcript of approximately 3.3 kb in all tissues tested. </p><p>Using a yeast 2-hybrid screen to find molecules that could interact with the KRAB-A domain, Kim et al. (1996) isolated and cloned Krip1, the mouse homolog of KAP1. </p><p>In the TIF1 proteins, Venturini et al. (1999) identified a 25-amino acid stretch rich in tryptophan and phenylalanine located downstream of the coiled-coil motif. This 25-amino acid stretch is highly conserved between TIF1A, TIF1B, and TIF1G (605769), and the authors termed this the TIF1 signature sequence, or TSS. </p><p>By immunofluorescence analysis, Messerschmidt et al. (2012) found that Trim28 was highly expressed in mouse oocytes and early embryos. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Moosmann et al. (1996) mapped the TIF1-beta gene to 19q13.4. </p>
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<strong>Gene Function</strong>
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<p>Friedman et al. (1996) identified KAP1 as a KRAB-binding corepressor. When KAP1 was expressed in COS cells, it bound a wildtype KRAB domain, but not mutant KRAB domains that had no repression ability. Furthermore, KAP1 formed a complex with a KRAB-domain transcription factor and increased the efficiency of KRAB-mediated repression. </p><p>Moosmann et al. (1996) demonstrated that TIF1-beta repressed transcription only when bound to DNA. </p><p>Using luciferase analysis, Venturini et al. (1999) determined that TIF1B, like TIF1A and TIF1G, repressed transcription by binding through the TSS to promoter regions. </p><p>Moloney murine leukemia virus (MMLV) replication is restricted in embryonic carcinoma and embryonic stem cells. Using EMSA of MMLV-infected mouse embryonic cell lines, Wolf and Goff (2007) purified the repressor-binding site complex and identified Trim28 as an integral component of the complex. RNA interference-mediated knockdown of Trim28 in mouse embryonic carcinoma and embryonic stem cells relieved the restriction on MMLV replication, and Trim28 was bound to the primer-binding site when restriction took place. Wolf and Goff (2007) concluded that TRIM family members are involved in retroviral restriction. </p><p>Tian et al. (2009) found that APAK (ZNF420; 617216) interacted with p53 (TP53; 191170) and KAP1 via its zinc fingers and KRAB domain, respectively, in unstressed human cells. KAP1 recruited ATM (607585) and HDAC1 (601241) to attenuate acetylation of p53, thereby repressing p53 activity and expression of proapoptotic genes. APAK, KAP1, and ATM did not regulate p53 targets that induce cell cycle arrest. In response to DNA damage, ATM phosphorylated APAK on ser68, causing dissociation of APAK and HDAC1 from p53, allowing expression of proapoptotic p53 target genes and apoptosis. </p><p>Matsui et al. (2010) showed that the H3K9 methyltransferase ESET (604396) and KAP1 are required for H3K9 trimethylation (H3K9me3) and silencing of endogenous and introduced retroviruses specifically in mouse embryonic stem (ES) cells. Furthermore, whereas ESET enzymatic activity is crucial for binding heterochromatin protein-1 (HP1; 604478) and efficient proviral silencing, the H4K20 methyltransferases Suv420h1 (610881) and Suv420h2 (613198) are dispensable for silencing. Notably, in mouse ES cells null for 3 DNA methyltransferases (Dnmt1, 126375; Dnmt3a, 602769; Dnmt3b, 602900), ESET and KAP1 binding and ESET-mediated H3K9me3 were maintained and ERVs (endogenous retroviruses) were minimally derepressed. Matsui et al. (2010) proposed that a DNA methylation-independent pathway involving KAP1 and ESET/ESET-mediated H3K9me3 is required for proviral silencing during the period early in embryogenesis when DNA methylation is dynamically reprogrammed. </p><p>The human immunodeficiency virus (HIV)-1 enzyme integrase (IN) catalyzes integration of viral cDNA into the host genome and is positively regulated by acetylation. Using yeast 2-hybrid and coimmunoprecipitation analyses, Allouch et al. (2011) found that KAP1 bound acetylated IN. KAP1 induced IN deacetylation through the formation of a complex with HDAC1. Modulation of intracellular KAP1 levels in various cell types, including T cells, the primary HIV-1 target, revealed that KAP1 curtailed viral infectivity by selectively affecting HIV-1 integration. Allouch et al. (2011) concluded that acetylation of IN is a crucial step in the viral infectious cycle and that KAP1 is a cellular factor that restricts HIV-1 infection. </p><p>Barde et al. (2013) found that in mice, hematopoietic-restricted deletion of Kap1 results in severe hyperproliferative anemia. Kap1-deleted erythroblasts failed to induce mitophagy-associated genes and retained mitochondria. This was due to persistent expression of microRNAs targeting mitophagy transcripts, itself secondary to a lack of repression by stage-specific KRAB zinc finger proteins. The KRAB/KAP1-miRNA regulatory cascade is evolutionarily conserved, as it also controls mitophagy during human erythropoiesis. Barde et al. (2013) concluded that a multilayered transcription regulatory system is present, in which protein and RNA-based repressors are superimposed in combinatorial fashion to govern the timely triggering of an important differentiation event. </p><p>By yeast 2-hybrid and coimmunoprecipitation analyses, Huang et al. (2013) showed that the proline-rich N terminus of FOXP3 (300292) interacted with the C terminus of FIK, an isoform of ZFP90 (609451). Expression of FOXP3 and FIK in Jurkat T cells led to decreased expression of IL2 (147680) and IFNG (147570), and chromatin immunoprecipitation analysis showed that FOXP3, FIK, and KAP1, which binds to the A box within the KRAB domain of FIK, were present on the same site on the IL2 and IFNG promoters. FIK was highly expressed in Tregs, and disruption of the FOXP3-FIK-KAP1 complex in Tregs abrogated their suppressor activity. Huang et al. (2013) concluded that FIK has a critical role in regulating FOXP3 activity and Treg function. </p><p>Van Meter et al. (2014) reported that the longevity-regulating protein SIRT6 (606211) is a powerful repressor of L1 (see LRE1, 151626) activity. Specifically, SIRT6 binds to the 5-prime UTR of L1 loci, where it mono-ADP ribosylates the nuclear corepressor protein KAP1 and facilitates KAP1 interaction with the heterochromatin factor HP1, thereby contributing to the packaging of L1 elements into transcriptionally repressive heterochromatin. During the course of aging, and also in response to DNA damage, however, Van Meter et al. (2014) found that SIRT6 is depleted from L1 loci, allowing the activation of these previously silenced retroelements. </p><p>Elsasser et al. (2015) showed that the replacement histone variant H3.3 (601128) is enriched at class I and class II endogenous retroviral elements (ERVs), notably those of the early transposon/MusD family and intracisternal A-type particles. Deposition at a subset of these elements is dependent on the H3.3 chaperone complex containing ATRX (300032) and DAXX (603186). Elsasser et al. (2015) demonstrated that recruitment of DAXX, H3.3, and KAP1 to ERVs is codependent and occurs upstream of ESET (SETDB1; 604396), linking H3.3 to ERV-associated H3K9me3. Importantly, H3K9me3 is reduced at ERVs upon H3.3 deletion, resulting in derepression and dysregulation of adjacent, endogenous genes, along with increased retrotransposition of intracisternal A-type particles. Elsasser et al. (2015) concluded that their study identifies a unique heterochromatin state marked by the presence of both H3.3 and H3K9me3, and establishes an important role for H3.3 in control of ERV retrotransposition in embryonic stem cells. </p>
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<strong>Animal Model</strong>
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<p>Messerschmidt et al. (2012) deleted Trim28 from mouse oocytes that were then fertilized by wildtype males. Embryos derived from this mating lacked both Trim28 RNA and protein until transcription from the paternal allele ensued after zygotic gene activation at the early 2-cell stage. Despite normal development to the blastocyst stage, highly pleiotropic defects resulted in complete lack of live births. Observed defects included edemas, craniofacial malformations, hemorrhage, and complete and hemianophthalmia. Microarray analysis revealed that maternal Trim28 mutants showed misregulation of the H19 (103280)/Igf2 (147470) imprinted cluster. Examination of the methylation status of the H19/Igf2 cluster suggested that maternal Trim28 protects the H19 differentially methylated region (DMR) on the paternal chromosome from aberrant DNA demethylation. Other DMRs were variably demethylated in mutant embryos, which likely contributed to the highly variable phenotype. Messerschmidt et al. (2012) concluded that TRIM28 is required to maintain genomic imprints. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
|
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</div>
|
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<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Allouch, A., Di Primio, C., Alpi, E., Lusic, M., Arosio, D., Giacca, M., Cereseto, A.
|
|
<strong>The TRIM family protein KAP1 inhibits HIV-1 integration.</strong>
|
|
Cell Host Microbe 9: 484-495, 2011.
|
|
|
|
|
|
[PubMed: 21669397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.chom.2011.05.004]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Barde, I., Rauwel, B., Marin-Florez, R. M., Corsinotti, A., Laurenti, E., Verp, S., Offner, S., Marquis, J., Kapopoulou, A., Vanicek, J., Trono, D.
|
|
<strong>A KRAB/KAP1-miRNA cascade regulates erythropoiesis through stage-specific control of mitophagy.</strong>
|
|
Science 340: 350-353, 2013.
|
|
|
|
|
|
[PubMed: 23493425]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1232398]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elsasser, S. J., Noh, K.-M., Diaz, N., Allis, C. D., Banaszynski, L. A.
|
|
<strong>Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells.</strong>
|
|
Nature 522: 240-244, 2015.
|
|
|
|
|
|
[PubMed: 25938714]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature14345]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Friedman, J. R., Fredericks, W. J., Jensen, D. E., Speicher, D. W., Huang, X.-P., Neilson, E. G., Rauscher, F. J., III.
|
|
<strong>KAP-1, a novel corepressor for the highly conserved KRAB repression domain.</strong>
|
|
Genes Dev. 10: 2067-2078, 1996.
|
|
|
|
|
|
[PubMed: 8769649]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gad.10.16.2067]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Huang, C., Martin, S., Pfleger, C., Du, J., Buckner, J. H., Bluestone, J. A., Riley, J. L., Ziegler, S. F.
|
|
<strong>Cutting edge: a novel, human-specific interacting protein couples FOXP3 to a chromatin-remodeling complex that contains KAP1/TRIM28.</strong>
|
|
J. Immun. 190: 4470-4473, 2013.
|
|
|
|
|
|
[PubMed: 23543754]
|
|
|
|
|
|
[Full Text: https://doi.org/10.4049/jimmunol.1203561]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Iyengar, S., Farnham, P. J.
|
|
<strong>KAP1 protein: an enigmatic master regulator of the genome.</strong>
|
|
J. Biol. Chem. 286: 26267-26276, 2011.
|
|
|
|
|
|
[PubMed: 21652716]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.R111.252569]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, S.-S., Chen, Y.-M., O'Leary, E., Witzgall, R., Vidal, M., Bonventre, J. V.
|
|
<strong>A novel member of the RING finger family, KRIP-1, associates with the KRAB-A transcriptional repressor domain of zinc finger proteins.</strong>
|
|
Proc. Nat. Acad. Sci. 93: 15299-15304, 1996.
|
|
|
|
|
|
[PubMed: 8986806]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.93.26.15299]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Matsui, T., Leung, D., Miyashita, H., Maksakova, I. A., Miyachi, H., Kimura, H., Tachibana, M., Lorincz, M. C., Shinkai, Y.
|
|
<strong>Proviral silencing in embryonic stem cells requires the histone methyltransferase ESET.</strong>
|
|
Nature 464: 927-931, 2010. Note: Erratum: Nature 513: 128 only, 2014.
|
|
|
|
|
|
[PubMed: 20164836]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature08858]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Messerschmidt, D. M., de Vries, W., Ito, M., Solter, D., Ferguson-Smith, A., Knowles, B. B.
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|
<strong>Trim28 is required for epigenetic stability during mouse oocyte to embryo transition.</strong>
|
|
Science 335: 1499-1502, 2012.
|
|
|
|
|
|
[PubMed: 22442485]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1216154]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Moosmann, P., Georgiev, O., Le Douarin, B., Bourquin, J.-P., Schaffner, W.
|
|
<strong>Transcriptional repression by RING finger protein TIF1-beta that interacts with the KRAB repressor domain of KOX1.</strong>
|
|
Nucleic Acids Res. 24: 4859-4867, 1996.
|
|
|
|
|
|
[PubMed: 9016654]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/nar/24.24.4859]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tian, C., Xing, G., Xie, P., Lu, K., Nie, J., Wang, J., Li, L., Gao, M., Zhang, L., He, F.
|
|
<strong>KRAB-type zinc-finger protein Apak specifically regulates p53-dependent apoptosis.</strong>
|
|
Nature Cell Biol. 11: 580-591, 2009.
|
|
|
|
|
|
[PubMed: 19377469]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ncb1864]
|
|
|
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Van Meter, M., Kashyap, M., Rezazadeh, S., Geneva, A. J., Morello, T. D., Seluanov, A., Gorbunova, V.
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|
<strong>SIRT6 represses LINE1 retrotransposons by ribosylating KAP1 but this repression fails with stress and age.</strong>
|
|
Nature Commun. 5: 5011, 2014. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 25247314]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ncomms6011]
|
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</p>
|
|
</li>
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<li>
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<p class="mim-text-font">
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Venturini, L., You, J., Stadler, M., Galien, R., Lallemand, V., Koken, M. H. M., Mattei, M. G., Ganser, A., Chambon, P., Losson, R., de The, H.
|
|
<strong>TIF1-gamma, a novel member of the transcriptional intermediary factor 1 family.</strong>
|
|
Oncogene 18: 1209-1217, 1999.
|
|
|
|
|
|
[PubMed: 10022127]
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|
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[Full Text: https://doi.org/10.1038/sj.onc.1202655]
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</p>
|
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</li>
|
|
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<li>
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<p class="mim-text-font">
|
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Wolf, D., Goff, S. P.
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<strong>TRIM28 mediates primer binding site-targeted silencing of murine leukemia virus in embryonic cells.</strong>
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Cell 131: 46-57, 2007.
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|
|
|
|
[PubMed: 17923087]
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|
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[Full Text: https://doi.org/10.1016/j.cell.2007.07.026]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 11/18/2016<br>Ada Hamosh - updated : 06/24/2015<br>Ada Hamosh - updated : 1/13/2015<br>Paul J. Converse - updated : 1/17/2014<br>Ada Hamosh - updated : 5/3/2013<br>Patricia A. Hartz - updated : 4/25/2012<br>Patricia A. Hartz - updated : 4/13/2012<br>Paul J. Converse - updated : 3/1/2012<br>Ada Hamosh - updated : 5/26/2010<br>Paul J. Converse - updated : 5/15/2009<br>Paul J. Converse - updated : 3/26/2001<br>Jennifer P. Macke - updated : 4/15/1998<br>Rebekah S. Rasooly - updated : 1/27/1998<br>Victor A. McKusick - updated : 4/28/1997
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Jennifer P. Macke : 4/9/1997
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Edit History:
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carol : 04/15/2021<br>mgross : 11/18/2016<br>carol : 09/20/2016<br>alopez : 06/24/2015<br>alopez : 1/13/2015<br>alopez : 9/15/2014<br>mgross : 2/11/2014<br>mcolton : 1/17/2014<br>alopez : 5/3/2013<br>mgross : 4/25/2012<br>terry : 4/25/2012<br>terry : 4/13/2012<br>mgross : 3/5/2012<br>terry : 3/1/2012<br>alopez : 5/27/2010<br>terry : 5/26/2010<br>mgross : 5/18/2009<br>terry : 5/15/2009<br>alopez : 4/9/2009<br>carol : 10/9/2006<br>cwells : 10/22/2003<br>mgross : 3/26/2001<br>alopez : 11/2/1999<br>dholmes : 4/15/1998<br>dholmes : 4/7/1998<br>alopez : 1/28/1998<br>alopez : 1/27/1998<br>alopez : 4/29/1997<br>alopez : 4/28/1997<br>alopez : 4/15/1997<br>alopez : 4/15/1997<br>alopez : 4/9/1997<br>alopez : 4/9/1997
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