2194 lines
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Entry
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- *602165 - TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27
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- OMIM
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<p>
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<span class="h4">*602165</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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<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="#geneFunction">Gene Function</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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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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 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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<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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<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=ENSG00000204713;t=ENST00000377199" 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=5987" 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=602165" 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=ENSG00000204713;t=ENST00000377199" 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_006510" 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_006510" 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=602165" 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 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="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=15996&isoform_id=15996_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/TRIM27" 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/132517,337372,5730009,6941892,12275874,12275876,15488901,32693728,32693730,44890750,56208114,56208561,62089356,119623581,119623582,1187633008,1187633010" 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/P14373" 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 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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<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=5987" 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=ENSG00000204713;t=ENST00000377199" 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=TRIM27" 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=TRIM27" 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+5987" 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/TRIM27" 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:5987" 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/5987" 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=chr6&hgg_gene=ENST00000377199.4&hgg_start=28903002&hgg_end=28923985&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 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=602165[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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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=602165[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/ENSG00000204713" 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=TRIM27" 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=TRIM27" 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=TRIM27&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/PA162406956" 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-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-cell;">Animal Models</div>
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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:9975" 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:97904" 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/TRIM27#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:97904" 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/5987/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=5987" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00015114;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00015114 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00016190;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00016190 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00016191;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00016191 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00018384;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00018384 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022868;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022868 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022870;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022870 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00022872;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00022872 </a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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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 style="display: table-cell;">Cellular Pathways</div>
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</a>
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<div><a href="https://reactome.org/content/query?q=TRIM27&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 class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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602165
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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 27; TRIM27
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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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<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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RET FINGER PROTEIN; RFP
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TRIM27" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRIM27</a></em></strong>
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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/6/219?start=-3&limit=10&highlight=219">6p22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:28903002-28923985&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'})">6:28,903,002-28,923,985</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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<div>
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<br />
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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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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Ret finger protein (RFP) is a DNA-binding protein associated with the nuclear matrix (<a href="#2" class="mim-tip-reference" title="Isomura, T., Tamiya-Koizumi, K., Suzuki, M., Yoshida, S., Taniguchi, M., Matsuyama, M., Ishigaki, T., Sakuma, S., Takahashi, M. <strong>RFP is a DNA binding protein associated with the nuclear matrix.</strong> Nucleic Acids Res. 20: 5305-5310, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1437549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1437549</a>] [<a href="https://doi.org/10.1093/nar/20.20.5305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1437549">Isomura et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1437549" 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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<br />
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<a id="geneFunction" class="mim-anchor"></a>
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<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#5" class="mim-tip-reference" title="Shimono, Y., Murakami, H., Hasegawa, Y., Takahashi, M. <strong>RET finger protein is a transcriptional repressor and interacts with enhancer of polycomb that has dual transcriptional functions.</strong> J. Biol. Chem. 275: 39411-39419, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976108</a>] [<a href="https://doi.org/10.1074/jbc.M006585200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10976108">Shimono et al. (2000)</a> found that RFP interacted with EPC1 (<a href="/entry/610999">610999</a>) and that both proteins repressed gene transcription. Yeast 2-hybrid assays revealed that the coiled-coil domain of RFP associated with the EPcA domain and the C-terminal region of EPC. Both proteins coprecipitated from lysates of human cells and mostly colocalized in the nucleus. The coiled-coil domain of RFP and the C-terminal region of EPC1 repressed transcriptional activity in reporter gene assays, whereas the EPcA domain of EPC1 activated transcriptional activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10976108" 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="#1" class="mim-tip-reference" title="Dho, S. H., Kwon, K.-S. <strong>The Ret finger protein induces apoptosis via its RING finger-B box-coiled-coil motif.</strong> J. Biol. Chem. 278: 31902-31908, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12807881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12807881</a>] [<a href="https://doi.org/10.1074/jbc.M304062200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12807881">Dho and Kwon (2003)</a> transfected a human embryonic kidney cell line with RFP and observed an apoptotic response mediated by JNK (MAPK8; <a href="/entry/601158">601158</a>) and p38 (MAPK14; <a href="/entry/600289">600289</a>) signaling pathways originating with ASK1 (MAP3K5; <a href="/entry/602448">602448</a>) and also by caspase (see CASP8; <a href="/entry/601763">601763</a>) activation. RFP-induced apoptosis was independent of mitochondrial dysfunction, and the RING, B-box, and coiled-coil domains of RFP were required to induce apoptosis. <a href="#1" class="mim-tip-reference" title="Dho, S. H., Kwon, K.-S. <strong>The Ret finger protein induces apoptosis via its RING finger-B box-coiled-coil motif.</strong> J. Biol. Chem. 278: 31902-31908, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12807881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12807881</a>] [<a href="https://doi.org/10.1074/jbc.M304062200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12807881">Dho and Kwon (2003)</a> concluded that RFP activates a caspase pathway independent of mitochondrial events and a stress-activated MAP kinase pathway, both of which are required for the induction of cell death. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12807881" 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 identify proteins that affect RB1 (<a href="/entry/614041">614041</a>)-mediated gene activation, <a href="#3" class="mim-tip-reference" title="Krutzfeldt, M., Ellis, M., Weekes, D. B., Bull, J. J., Eilers, M., Vivanco, M. M., Sellers, W. R., Mittnacht, S. <strong>Selective ablation of retinoblastoma protein function by the RET finger protein.</strong> Molec. Cell 18: 213-224, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15837424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15837424</a>] [<a href="https://doi.org/10.1016/j.molcel.2005.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15837424">Krutzfeldt et al. (2005)</a> found that RFP strongly reduced the effect of RB1 on glucocorticoid receptor (GCCR; <a href="/entry/138040">138040</a>)-mediated transcription, but it did not prevent the ability of RB1 to inhibit E2F (E2F1; <a href="/entry/189971">189971</a>)-mediated transcription. Mutation analysis showed that RFP interacted with the large pocket of RB1 in a manner distinct from that of E2F. <a href="#3" class="mim-tip-reference" title="Krutzfeldt, M., Ellis, M., Weekes, D. B., Bull, J. J., Eilers, M., Vivanco, M. M., Sellers, W. R., Mittnacht, S. <strong>Selective ablation of retinoblastoma protein function by the RET finger protein.</strong> Molec. Cell 18: 213-224, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15837424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15837424</a>] [<a href="https://doi.org/10.1016/j.molcel.2005.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15837424">Krutzfeldt et al. (2005)</a> proposed that RFP expression may neutralize the RB1-mediated differentiation response while leaving in place E2F-dependent cell cycle regulation and apoptosis protection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15837424" 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 immunoprecipitation analysis, <a href="#4" class="mim-tip-reference" title="Shimono, K., Shimono, Y., Shimokata, K., Ishiguro, N., Takahashi, M. <strong>Microspherule protein 1, Mi-2-beta, and RET finger protein associate in the nucleolus and up-regulate ribosomal gene transcription.</strong> J. Biol. Chem. 280: 39436-39447, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16186106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16186106</a>] [<a href="https://doi.org/10.1074/jbc.M507356200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16186106">Shimono et al. (2005)</a> found that MCRS1 (<a href="/entry/609504">609504</a>) interacted with MI2-beta (CHD4; <a href="/entry/603277">603277</a>), RFP, and UBF (UBTF; <a href="/entry/600673">600673</a>). Yeast 2-hybrid screening showed that the central region of MCRS1 interacted with the ATPase/helicase region of MI2-beta and the coiled-coil region of RFP. Confocal microscopy demonstrated colocalization of MCRS1, MI2-beta, RFP, and UBF in nucleoli. Chromatin immunoprecipitation assays showed that MCRS1, MI2-beta, and RFP associated with rDNA and were involved in transactivation of ribosomal gene transcription, which could be downregulated by small interfering RNA-mediated downregulation of MCRS1, MI2-beta, and RFP. <a href="#4" class="mim-tip-reference" title="Shimono, K., Shimono, Y., Shimokata, K., Ishiguro, N., Takahashi, M. <strong>Microspherule protein 1, Mi-2-beta, and RET finger protein associate in the nucleolus and up-regulate ribosomal gene transcription.</strong> J. Biol. Chem. 280: 39436-39447, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16186106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16186106</a>] [<a href="https://doi.org/10.1074/jbc.M507356200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16186106">Shimono et al. (2005)</a> concluded that MI2-beta and RFP, which are involved in transcriptional repression in the nucleus, associate with MCRS1 in the nucleolus and are involved in activation of rRNA transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16186106" 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 screening of a B-cell cDNA library, <a href="#7" class="mim-tip-reference" title="Zha, J., Han, K.-J., Xu, L.-G., He, W., Zhou, Q., Chen, D., Zhai, Z., Shu, H.-B. <strong>The Ret finger protein inhibits signaling mediated by the noncanonical and canonical I-kappa-B kinase family members.</strong> J. Immun. 176: 1072-1080, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16393995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16393995</a>] [<a href="https://doi.org/10.4049/jimmunol.176.2.1072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16393995">Zha et al. (2006)</a> found that IKKE (IKBKE; <a href="/entry/605048">605048</a>) interacted with the C terminus of RFP. Coimmunoprecipitation experiments showed that RFP also interacted with TBK1 (<a href="/entry/604834">604834</a>), IKKA (CHUK; <a href="/entry/600664">600664</a>), and IKKB (IKBKB; <a href="/entry/603258">603258</a>). Immunofluorescence and confocal microscopy demonstrated primarily cytoplasmic expression of RFP and IKKE. In vitro kinase assays showed that RFP was strongly phosphorylated by IKKE and TBK1, but only weakly by IKKA and IKKB. RFP inhibited NFKB (see <a href="/entry/164011">164011</a>) and interferon (see <a href="/entry/147760">147760</a>)-stimulated response element activation triggered by IKK overexpression or by cytokine or viral infection pathways. <a href="#7" class="mim-tip-reference" title="Zha, J., Han, K.-J., Xu, L.-G., He, W., Zhou, Q., Chen, D., Zhai, Z., Shu, H.-B. <strong>The Ret finger protein inhibits signaling mediated by the noncanonical and canonical I-kappa-B kinase family members.</strong> J. Immun. 176: 1072-1080, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16393995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16393995</a>] [<a href="https://doi.org/10.4049/jimmunol.176.2.1072" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16393995">Zha et al. (2006)</a> concluded that RFP negatively regulates signaling involved in the antiviral response and inflammation by targeting IKKs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16393995" 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="#6" class="mim-tip-reference" title="Szpirer, C., Szpirer, J., Riviere, M., Tazi, R., Pontarotti, P. <strong>Mapping of the Olf89 and Rfp genes to the rat genome: comparison with the mouse and human and new insights into the evolution of the rodent genome.</strong> Cytogenet. Cell Genet. 78: 137-139, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371408</a>] [<a href="https://doi.org/10.1159/000134648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9371408">Szpirer et al. (1997)</a> demonstrated that although the RFP gene and a gene for an olfactory receptor (OLF89) both map to chromosome 6 less than 300 kb apart, the mouse homologs are located on 2 different chromosomes, namely 13 and 17, respectively. Thus the 2 genes delineate the breakpoint between 2 of the conserved synteny units on chromosome 6. Unit 1 (or UA) contains the major histocompatibility complex (MHC); unit 2 (or UB) contains the RFP gene. The mouse UA and UB regions are found on chromosome 17 and 13, respectively. The split at the UA/UB breakpoint must have occurred in the rodent lineage, before the mouse radiation, because the rat also shows nonsynteny of RFP and OLF89. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9371408" 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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Dho, S. H., Kwon, K.-S.
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<strong>The Ret finger protein induces apoptosis via its RING finger-B box-coiled-coil motif.</strong>
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J. Biol. Chem. 278: 31902-31908, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12807881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12807881</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12807881" 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.M304062200" target="_blank">Full Text</a>]
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Isomura, T., Tamiya-Koizumi, K., Suzuki, M., Yoshida, S., Taniguchi, M., Matsuyama, M., Ishigaki, T., Sakuma, S., Takahashi, M.
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<strong>RFP is a DNA binding protein associated with the nuclear matrix.</strong>
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Nucleic Acids Res. 20: 5305-5310, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1437549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1437549</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1437549" 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/20.20.5305" target="_blank">Full Text</a>]
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Krutzfeldt, M., Ellis, M., Weekes, D. B., Bull, J. J., Eilers, M., Vivanco, M. M., Sellers, W. R., Mittnacht, S.
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<strong>Selective ablation of retinoblastoma protein function by the RET finger protein.</strong>
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Molec. Cell 18: 213-224, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15837424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15837424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15837424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Shimono, K., Shimono, Y., Shimokata, K., Ishiguro, N., Takahashi, M.
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<strong>Microspherule protein 1, Mi-2-beta, and RET finger protein associate in the nucleolus and up-regulate ribosomal gene transcription.</strong>
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J. Biol. Chem. 280: 39436-39447, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16186106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16186106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16186106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Shimono, Y., Murakami, H., Hasegawa, Y., Takahashi, M.
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<strong>RET finger protein is a transcriptional repressor and interacts with enhancer of polycomb that has dual transcriptional functions.</strong>
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J. Biol. Chem. 275: 39411-39419, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10976108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10976108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10976108" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Szpirer, C., Szpirer, J., Riviere, M., Tazi, R., Pontarotti, P.
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<strong>Mapping of the Olf89 and Rfp genes to the rat genome: comparison with the mouse and human and new insights into the evolution of the rodent genome.</strong>
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Cytogenet. Cell Genet. 78: 137-139, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9371408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9371408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9371408" 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/10.1159/000134648" target="_blank">Full Text</a>]
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Zha, J., Han, K.-J., Xu, L.-G., He, W., Zhou, Q., Chen, D., Zhai, Z., Shu, H.-B.
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<strong>The Ret finger protein inhibits signaling mediated by the noncanonical and canonical I-kappa-B kinase family members.</strong>
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J. Immun. 176: 1072-1080, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16393995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16393995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16393995" 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.176.2.1072" target="_blank">Full Text</a>]
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Patricia A. Hartz - updated : 7/26/2007
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Paul J. Converse - updated : 11/2/2006
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Victor A. McKusick : 12/10/1997
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alopez : 06/17/2011
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mgross : 9/16/2009<br>mgross : 7/26/2007<br>mgross : 11/6/2006<br>mgross : 11/6/2006<br>mgross : 11/6/2006<br>mgross : 11/6/2006<br>mgross : 11/6/2006<br>terry : 11/2/2006<br>carol : 10/26/2006<br>mgross : 4/19/2005<br>mgross : 4/19/2005<br>dholmes : 12/30/1997<br>mark : 12/10/1997<br>mark : 12/10/1997
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<strong>*</strong> 602165
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TRIPARTITE MOTIF-CONTAINING PROTEIN 27; TRIM27
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<em>Alternative titles; symbols</em>
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RET FINGER PROTEIN; RFP
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<strong><em>HGNC Approved Gene Symbol: TRIM27</em></strong>
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Cytogenetic location: 6p22.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:28,903,002-28,923,985 </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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<p>Ret finger protein (RFP) is a DNA-binding protein associated with the nuclear matrix (Isomura et al., 1992). </p>
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<strong>Gene Function</strong>
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<p>Shimono et al. (2000) found that RFP interacted with EPC1 (610999) and that both proteins repressed gene transcription. Yeast 2-hybrid assays revealed that the coiled-coil domain of RFP associated with the EPcA domain and the C-terminal region of EPC. Both proteins coprecipitated from lysates of human cells and mostly colocalized in the nucleus. The coiled-coil domain of RFP and the C-terminal region of EPC1 repressed transcriptional activity in reporter gene assays, whereas the EPcA domain of EPC1 activated transcriptional activity. </p><p>Dho and Kwon (2003) transfected a human embryonic kidney cell line with RFP and observed an apoptotic response mediated by JNK (MAPK8; 601158) and p38 (MAPK14; 600289) signaling pathways originating with ASK1 (MAP3K5; 602448) and also by caspase (see CASP8; 601763) activation. RFP-induced apoptosis was independent of mitochondrial dysfunction, and the RING, B-box, and coiled-coil domains of RFP were required to induce apoptosis. Dho and Kwon (2003) concluded that RFP activates a caspase pathway independent of mitochondrial events and a stress-activated MAP kinase pathway, both of which are required for the induction of cell death. </p><p>Using a yeast 2-hybrid screen to identify proteins that affect RB1 (614041)-mediated gene activation, Krutzfeldt et al. (2005) found that RFP strongly reduced the effect of RB1 on glucocorticoid receptor (GCCR; 138040)-mediated transcription, but it did not prevent the ability of RB1 to inhibit E2F (E2F1; 189971)-mediated transcription. Mutation analysis showed that RFP interacted with the large pocket of RB1 in a manner distinct from that of E2F. Krutzfeldt et al. (2005) proposed that RFP expression may neutralize the RB1-mediated differentiation response while leaving in place E2F-dependent cell cycle regulation and apoptosis protection. </p><p>By immunoprecipitation analysis, Shimono et al. (2005) found that MCRS1 (609504) interacted with MI2-beta (CHD4; 603277), RFP, and UBF (UBTF; 600673). Yeast 2-hybrid screening showed that the central region of MCRS1 interacted with the ATPase/helicase region of MI2-beta and the coiled-coil region of RFP. Confocal microscopy demonstrated colocalization of MCRS1, MI2-beta, RFP, and UBF in nucleoli. Chromatin immunoprecipitation assays showed that MCRS1, MI2-beta, and RFP associated with rDNA and were involved in transactivation of ribosomal gene transcription, which could be downregulated by small interfering RNA-mediated downregulation of MCRS1, MI2-beta, and RFP. Shimono et al. (2005) concluded that MI2-beta and RFP, which are involved in transcriptional repression in the nucleus, associate with MCRS1 in the nucleolus and are involved in activation of rRNA transcription. </p><p>By yeast 2-hybrid screening of a B-cell cDNA library, Zha et al. (2006) found that IKKE (IKBKE; 605048) interacted with the C terminus of RFP. Coimmunoprecipitation experiments showed that RFP also interacted with TBK1 (604834), IKKA (CHUK; 600664), and IKKB (IKBKB; 603258). Immunofluorescence and confocal microscopy demonstrated primarily cytoplasmic expression of RFP and IKKE. In vitro kinase assays showed that RFP was strongly phosphorylated by IKKE and TBK1, but only weakly by IKKA and IKKB. RFP inhibited NFKB (see 164011) and interferon (see 147760)-stimulated response element activation triggered by IKK overexpression or by cytokine or viral infection pathways. Zha et al. (2006) concluded that RFP negatively regulates signaling involved in the antiviral response and inflammation by targeting IKKs. </p>
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<strong>Mapping</strong>
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<p>Szpirer et al. (1997) demonstrated that although the RFP gene and a gene for an olfactory receptor (OLF89) both map to chromosome 6 less than 300 kb apart, the mouse homologs are located on 2 different chromosomes, namely 13 and 17, respectively. Thus the 2 genes delineate the breakpoint between 2 of the conserved synteny units on chromosome 6. Unit 1 (or UA) contains the major histocompatibility complex (MHC); unit 2 (or UB) contains the RFP gene. The mouse UA and UB regions are found on chromosome 17 and 13, respectively. The split at the UA/UB breakpoint must have occurred in the rodent lineage, before the mouse radiation, because the rat also shows nonsynteny of RFP and OLF89. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Dho, S. H., Kwon, K.-S.
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<strong>The Ret finger protein induces apoptosis via its RING finger-B box-coiled-coil motif.</strong>
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J. Biol. Chem. 278: 31902-31908, 2003.
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[PubMed: 12807881]
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[Full Text: https://doi.org/10.1074/jbc.M304062200]
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Isomura, T., Tamiya-Koizumi, K., Suzuki, M., Yoshida, S., Taniguchi, M., Matsuyama, M., Ishigaki, T., Sakuma, S., Takahashi, M.
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<strong>RFP is a DNA binding protein associated with the nuclear matrix.</strong>
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Nucleic Acids Res. 20: 5305-5310, 1992.
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[PubMed: 1437549]
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[Full Text: https://doi.org/10.1093/nar/20.20.5305]
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<p class="mim-text-font">
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Krutzfeldt, M., Ellis, M., Weekes, D. B., Bull, J. J., Eilers, M., Vivanco, M. M., Sellers, W. R., Mittnacht, S.
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<strong>Selective ablation of retinoblastoma protein function by the RET finger protein.</strong>
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Molec. Cell 18: 213-224, 2005.
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[PubMed: 15837424]
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[Full Text: https://doi.org/10.1016/j.molcel.2005.03.009]
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<p class="mim-text-font">
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Shimono, K., Shimono, Y., Shimokata, K., Ishiguro, N., Takahashi, M.
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<strong>Microspherule protein 1, Mi-2-beta, and RET finger protein associate in the nucleolus and up-regulate ribosomal gene transcription.</strong>
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J. Biol. Chem. 280: 39436-39447, 2005.
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[PubMed: 16186106]
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[Full Text: https://doi.org/10.1074/jbc.M507356200]
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<li>
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<p class="mim-text-font">
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Shimono, Y., Murakami, H., Hasegawa, Y., Takahashi, M.
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<strong>RET finger protein is a transcriptional repressor and interacts with enhancer of polycomb that has dual transcriptional functions.</strong>
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J. Biol. Chem. 275: 39411-39419, 2000.
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[PubMed: 10976108]
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[Full Text: https://doi.org/10.1074/jbc.M006585200]
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</li>
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<li>
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<p class="mim-text-font">
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Szpirer, C., Szpirer, J., Riviere, M., Tazi, R., Pontarotti, P.
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<strong>Mapping of the Olf89 and Rfp genes to the rat genome: comparison with the mouse and human and new insights into the evolution of the rodent genome.</strong>
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Cytogenet. Cell Genet. 78: 137-139, 1997.
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[PubMed: 9371408]
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[Full Text: https://doi.org/10.1159/000134648]
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<li>
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Zha, J., Han, K.-J., Xu, L.-G., He, W., Zhou, Q., Chen, D., Zhai, Z., Shu, H.-B.
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<strong>The Ret finger protein inhibits signaling mediated by the noncanonical and canonical I-kappa-B kinase family members.</strong>
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J. Immun. 176: 1072-1080, 2006.
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[PubMed: 16393995]
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[Full Text: https://doi.org/10.4049/jimmunol.176.2.1072]
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Contributors:
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</span>
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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 : 7/26/2007<br>Paul J. Converse - updated : 11/2/2006
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</div>
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 12/10/1997
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</span>
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Edit History:
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|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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alopez : 06/17/2011<br>mgross : 9/16/2009<br>mgross : 7/26/2007<br>mgross : 11/6/2006<br>mgross : 11/6/2006<br>mgross : 11/6/2006<br>mgross : 11/6/2006<br>mgross : 11/6/2006<br>terry : 11/2/2006<br>carol : 10/26/2006<br>mgross : 4/19/2005<br>mgross : 4/19/2005<br>dholmes : 12/30/1997<br>mark : 12/10/1997<br>mark : 12/10/1997
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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