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Entry
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- *109092 - TRIPARTITE MOTIF-CONTAINING PROTEIN 21; TRIM21
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*109092</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="#cloning">Cloning and Expression</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="#biochemicalFeatures">Biochemical Features</a>
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<a href="#geneStructure">Gene Structure</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="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000132109;t=ENST00000254436" 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=6737" 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=109092" 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=ENSG00000132109;t=ENST00000254436" 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_003141" 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_003141" 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=109092" 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=00170&isoform_id=00170_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/TRIM21" 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/133250,337485,338490,665918,747927,14790039,14994115,15208660,53690156,119589251,218471934" 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/P19474" 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=6737" 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=ENSG00000132109;t=ENST00000254436" 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=TRIM21" 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=TRIM21" 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+6737" 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/TRIM21" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6737" 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=chr11&hgg_gene=ENST00000254436.8&hgg_start=4384897&hgg_end=4393702&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=109092[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=109092[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/ENSG00000132109" 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=TRIM21" 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=TRIM21" 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=TRIM21&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/PA36136" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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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:11312" 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:106657" 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/TRIM21#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:106657" 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/6737/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=6737" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=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 panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6737" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=TRIM21&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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109092
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TRIPARTITE MOTIF-CONTAINING PROTEIN 21; TRIM21
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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SJOGREN SYNDROME ANTIGEN A1; SSA1<br />
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SICCA SYNDROME ANTIGEN A; SSA<br />
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AUTOANTIGEN Ro/SSA, 52-KD; RO52
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TRIM21" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRIM21</a></em></strong>
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</span>
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</p>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/11/105?start=-3&limit=10&highlight=105">11p15.4</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:4384897-4393702&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'})">11:4,384,897-4,393,702</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>TRIM21 is an E3 ubiquitin ligase that controls responses to TLR2 agonists (<a href="#6" class="mim-tip-reference" title="Sjostrand, M., Carow, B., Nyberg, W. A., Covacu, R., Rottenberg, M. E., Espinosa, A. <strong>TRIM21 controls Toll-like receptor 2 responses in bone-marrow-derived macrophages.</strong> Immunology 159: 335-343, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31755557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31755557</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31755557[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/10.1111/imm.13157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31755557">Sjostrand et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31755557" 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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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Ro/SSA is a ribonucleoprotein particle composed of a single polypeptide and 1 of 4 small RNA molecules. Autoantibodies to Ro/SSA are present in 30 to 50% of patients with systemic lupus erythematosus (SLE; <a href="/entry/152700">152700</a>) and in at least half of patients with primary Sjogren syndrome (<a href="/entry/270150">270150</a>). At least 2 distinct Ro/SSA polypeptides exist, a 60-kD form (TROVE2; <a href="/entry/600063">600063</a>) and a 52-kD form. Using serum from a lupus patient to screen a human thymocyte cDNA expression library, <a href="#3" class="mim-tip-reference" title="Itoh, K., Itoh, Y., Frank, M. B. <strong>Protein heterogeneity in the human Ro/SSA ribonucleoproteins: the 52- and 60-kD Ro/SSA autoantigens are encoded by separate genes.</strong> J. Clin. Invest. 87: 177-186, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985094</a>] [<a href="https://doi.org/10.1172/JCI114968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1985094">Itoh et al. (1991)</a> cloned TRIM21, which encodes the 52-kD Ro/SSA antigen. The deduced 475-amino acid protein has a calculated molecular mass of 54.1 kD. It has multiple N-terminal zinc finger motifs, a central leucine zipper, and a potential N-glycosylation site. Predicted hydrophobic regions are located at the N terminus, in the center of the molecule, and at the C terminus. Western blot analysis of lymphocyte extracts using patient serum confirmed that TRIM21 had an apparent molecular mass of 52 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1985094" 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="#4" class="mim-tip-reference" title="James, L. C., Keeble, A. H., Khan, Z., Rhodes, D. A., Trowsdale, J. <strong>Structural basis for PRYSPRY-mediated tripartite motif (TRIM) protein function.</strong> Proc. Nat. Acad. Sci. 104: 6200-6205, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17400754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17400754</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17400754[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.0609174104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17400754">James et al. (2007)</a> stated that the human TRIM21 protein contains an N-terminal RING finger that has E3 ligase activity, followed by a B box, 2 coiled-coil regions, and a long C-terminal PRYSPRY domain that binds IgG (see <a href="/entry/147100">147100</a>) Fc fragments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17400754" 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 an EGFP reporter inserted into the Trim21 locus, <a href="#6" class="mim-tip-reference" title="Sjostrand, M., Carow, B., Nyberg, W. A., Covacu, R., Rottenberg, M. E., Espinosa, A. <strong>TRIM21 controls Toll-like receptor 2 responses in bone-marrow-derived macrophages.</strong> Immunology 159: 335-343, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31755557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31755557</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31755557[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/10.1111/imm.13157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31755557">Sjostrand et al. (2019)</a> showed that Trim21 was expressed in macrophages and dendritic cells of mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31755557" 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="#2" class="mim-tip-reference" title="Frank, M. B. <strong>Characterization of DNA binding properties and sequence specificity of the human 52 kDa Ro/SS-A (Ro52) zinc finger protein.</strong> Biochem. Biophys. Res. Commun. 259: 665-670, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364476</a>] [<a href="https://doi.org/10.1006/bbrc.1999.0835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10364476">Frank (1999)</a> found that human RO52 expressed in insect cells bound double-stranded but not single-stranded DNA, and that zinc was required for binding. Sequencing oligonucleotides bound by RO52 revealed a purine-rich consensus motif, ARGRGGG(G/C)(A/C)GRNGA, in which R represents a purine and N indicates no consensus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364476" 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 microarray analysis, <a href="#6" class="mim-tip-reference" title="Sjostrand, M., Carow, B., Nyberg, W. A., Covacu, R., Rottenberg, M. E., Espinosa, A. <strong>TRIM21 controls Toll-like receptor 2 responses in bone-marrow-derived macrophages.</strong> Immunology 159: 335-343, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31755557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31755557</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31755557[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/10.1111/imm.13157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31755557">Sjostrand et al. (2019)</a> showed that maturation of bone marrow-derived macrophages (BMDMs) from Trim21 -/- mice was reduced in response to macrophage colony-stimulating factor (MCSF, or CSF2; <a href="/entry/120420">120420</a>). Trim21 -/- BMDMs became hyporesponsive to stimulation with the TLR2 ligand PAM3CSK4, indicating that Trim21 was necessary for optimal responses to TLR2 agonists. Trim21 -/- BMDMs also became hyporesponsive to stimulation with Mycobacterium bovis Bacillus Calmette-Guerin (BCG), suggesting that Trim21 was also necessary for full responses to more complex stimuli. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31755557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Park, J. S., Burckhardt, C. J., Lazcano, R., Solis, L. M., Isogai, T., Li, L., Chen, C. S., Gao, B., Minna, J. D., Bachoo, R., DeBerardinis, R. J., Danuser, G. <strong>Mechanical regulation of glycolysis via cytoskeleton architecture.</strong> Nature 578: 621-626, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32051585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32051585</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32051585[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/s41586-020-1998-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32051585">Park et al. (2020)</a> reported that the transfer of human bronchial epithelial cells from stiff to soft substrates caused a downregulation of glycolysis via proteasomal degradation of the rate-limiting metabolic enzyme phosphofructokinase (PFK; see PFKP, <a href="/entry/171840">171840</a>). PFK degradation was triggered by the disassembly of stress fibers, which released the PFK-targeting E3 ubiquitin ligase TRIM21. Transformed non-small-cell lung cancer cells, which maintain high glycolytic rates regardless of changing environmental mechanics, retained PFK expression by downregulating TRIM21, and by sequestering residual TRIM21 on a stress fiber subset that is insensitive to substrate stiffness. <a href="#5" class="mim-tip-reference" title="Park, J. S., Burckhardt, C. J., Lazcano, R., Solis, L. M., Isogai, T., Li, L., Chen, C. S., Gao, B., Minna, J. D., Bachoo, R., DeBerardinis, R. J., Danuser, G. <strong>Mechanical regulation of glycolysis via cytoskeleton architecture.</strong> Nature 578: 621-626, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32051585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32051585</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32051585[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/s41586-020-1998-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32051585">Park et al. (2020)</a> concluded that their data revealed a mechanism by which glycolysis responds to architectural features of the actomyosin cytoskeleton, thus coupling cell metabolism to the mechanical properties of the surrounding tissue. These processes enable normal cells to tune energy production in variable microenvironments, whereas the resistance of the cytoskeleton in response to mechanical cues enables the persistence of high glycolytic rates in cancer cells despite constant alterations of the tumor tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32051585" 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="James, L. C., Keeble, A. H., Khan, Z., Rhodes, D. A., Trowsdale, J. <strong>Structural basis for PRYSPRY-mediated tripartite motif (TRIM) protein function.</strong> Proc. Nat. Acad. Sci. 104: 6200-6205, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17400754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17400754</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17400754[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.0609174104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17400754">James et al. (2007)</a> solved the crystal structure of the TRIM21 PRYSPRY domain in complex with Fc to 2.35-angstrom resolution. The PRYSPRY binding surface was formed by 6 extended loops, and mutation analysis showed that asp355, trp381, trp383, and phe450 were required for Fc binding. PRYSPRY bound the CH2-CH3 site of Fc, and the stoichiometry was 2 molecules of PRYSPRY to 1 Fc fragment. Binding between PRYSPRY and Fc was independent of pH from pH 8 to pH 5, but it was highly salt sensitive. <a href="#4" class="mim-tip-reference" title="James, L. C., Keeble, A. H., Khan, Z., Rhodes, D. A., Trowsdale, J. <strong>Structural basis for PRYSPRY-mediated tripartite motif (TRIM) protein function.</strong> Proc. Nat. Acad. Sci. 104: 6200-6205, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17400754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17400754</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17400754[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.0609174104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17400754">James et al. (2007)</a> hypothesized that during autoimmune disease, anti-TRIM21 antibodies bind epitopes in the RING and B-box domains of TRIM21 via their antigen-binding fragment (Fab) and also bind to the PRYSPRY domain of TRIM21 via their Fc portions. Simultaneous binding of Fab and Fc to TRIM21 is likely to occur between distinct TRIM21 molecules via an antibody bipolar bridging mechanism, a feature of pathogenic superantigens, and form large crosslinked immune complexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17400754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Frank, M. B., Itoh, K., Fujisaku, A., Pontarotti, P., Mattei, M.-G., Neas, B. R. <strong>The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome 11, and its polymorphisms.</strong> Am. J. Hum. Genet. 52: 183-191, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8094596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8094596</a>]" pmid="8094596">Frank et al. (1993)</a> determined that the TRIM21 gene contains at least 3 exons. The exon encoding the putative zinc fingers of the protein is separate from that encoding the leucine zipper. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8094596" 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 radioisotopic in situ hybridization, <a href="#1" class="mim-tip-reference" title="Frank, M. B., Itoh, K., Fujisaku, A., Pontarotti, P., Mattei, M.-G., Neas, B. R. <strong>The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome 11, and its polymorphisms.</strong> Am. J. Hum. Genet. 52: 183-191, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8094596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8094596</a>]" pmid="8094596">Frank et al. (1993)</a> mapped the TRIM21 gene to chromosome 11p15.5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8094596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Frank, M. B., Itoh, K., Fujisaku, A., Pontarotti, P., Mattei, M.-G., Neas, B. R. <strong>The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome 11, and its polymorphisms.</strong> Am. J. Hum. Genet. 52: 183-191, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8094596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8094596</a>]" pmid="8094596">Frank et al. (1993)</a> identified a RFLP of the TRIM21 gene and demonstrated that it was associated with SLE, primarily in black Americans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8094596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="2" class="mim-anchor"></a>
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<a id="Frank1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Frank, M. B.
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<strong>Characterization of DNA binding properties and sequence specificity of the human 52 kDa Ro/SS-A (Ro52) zinc finger protein.</strong>
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Biochem. Biophys. Res. Commun. 259: 665-670, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10364476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10364476</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10364476" 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/10.1006/bbrc.1999.0835" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Itoh1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Itoh, K., Itoh, Y., Frank, M. B.
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<strong>Protein heterogeneity in the human Ro/SSA ribonucleoproteins: the 52- and 60-kD Ro/SSA autoantigens are encoded by separate genes.</strong>
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J. Clin. Invest. 87: 177-186, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985094</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1985094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/JCI114968" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="James2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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James, L. C., Keeble, A. H., Khan, Z., Rhodes, D. A., Trowsdale, J.
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<strong>Structural basis for PRYSPRY-mediated tripartite motif (TRIM) protein function.</strong>
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Proc. Nat. Acad. Sci. 104: 6200-6205, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17400754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17400754</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17400754[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=17400754" 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.0609174104" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Park2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Park, J. S., Burckhardt, C. J., Lazcano, R., Solis, L. M., Isogai, T., Li, L., Chen, C. S., Gao, B., Minna, J. D., Bachoo, R., DeBerardinis, R. J., Danuser, G.
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<strong>Mechanical regulation of glycolysis via cytoskeleton architecture.</strong>
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Nature 578: 621-626, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32051585/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32051585</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32051585[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=32051585" 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/s41586-020-1998-1" target="_blank">Full Text</a>]
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Sjostrand2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sjostrand, M., Carow, B., Nyberg, W. A., Covacu, R., Rottenberg, M. E., Espinosa, A.
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<strong>TRIM21 controls Toll-like receptor 2 responses in bone-marrow-derived macrophages.</strong>
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Immunology 159: 335-343, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31755557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31755557</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31755557[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=31755557" 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/10.1111/imm.13157" target="_blank">Full Text</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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Bao Lige - updated : 03/02/2022
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 09/25/2020<br>Patricia A. Hartz - updated : 8/25/2008
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<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 : 3/1/1993
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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 : 03/03/2022
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<span class="mim-text-font">
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mgross : 03/02/2022<br>alopez : 09/25/2020<br>mgross : 08/27/2008<br>terry : 8/25/2008<br>wwang : 2/26/2007<br>mgross : 2/13/2003<br>mark : 8/25/1997<br>jason : 7/28/1994<br>carol : 12/22/1993<br>carol : 3/20/1993<br>carol : 3/1/1993
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<span class="mim-font">
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<strong>*</strong> 109092
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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 21; TRIM21
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</h3>
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</div>
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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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<span class="mim-font">
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SJOGREN SYNDROME ANTIGEN A1; SSA1<br />
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SICCA SYNDROME ANTIGEN A; SSA<br />
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AUTOANTIGEN Ro/SSA, 52-KD; RO52
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TRIM21</em></strong>
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<strong>
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<em>
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Cytogenetic location: 11p15.4
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:4,384,897-4,393,702 </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 class="mim-font">
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<strong>TEXT</strong>
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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>TRIM21 is an E3 ubiquitin ligase that controls responses to TLR2 agonists (Sjostrand et al., 2019). </p>
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</span>
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<div>
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<br />
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<h4>
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<span class="mim-font">
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<strong>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>Ro/SSA is a ribonucleoprotein particle composed of a single polypeptide and 1 of 4 small RNA molecules. Autoantibodies to Ro/SSA are present in 30 to 50% of patients with systemic lupus erythematosus (SLE; 152700) and in at least half of patients with primary Sjogren syndrome (270150). At least 2 distinct Ro/SSA polypeptides exist, a 60-kD form (TROVE2; 600063) and a 52-kD form. Using serum from a lupus patient to screen a human thymocyte cDNA expression library, Itoh et al. (1991) cloned TRIM21, which encodes the 52-kD Ro/SSA antigen. The deduced 475-amino acid protein has a calculated molecular mass of 54.1 kD. It has multiple N-terminal zinc finger motifs, a central leucine zipper, and a potential N-glycosylation site. Predicted hydrophobic regions are located at the N terminus, in the center of the molecule, and at the C terminus. Western blot analysis of lymphocyte extracts using patient serum confirmed that TRIM21 had an apparent molecular mass of 52 kD. </p><p>James et al. (2007) stated that the human TRIM21 protein contains an N-terminal RING finger that has E3 ligase activity, followed by a B box, 2 coiled-coil regions, and a long C-terminal PRYSPRY domain that binds IgG (see 147100) Fc fragments. </p><p>Using an EGFP reporter inserted into the Trim21 locus, Sjostrand et al. (2019) showed that Trim21 was expressed in macrophages and dendritic cells of mice. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<span class="mim-text-font">
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<p>Frank (1999) found that human RO52 expressed in insect cells bound double-stranded but not single-stranded DNA, and that zinc was required for binding. Sequencing oligonucleotides bound by RO52 revealed a purine-rich consensus motif, ARGRGGG(G/C)(A/C)GRNGA, in which R represents a purine and N indicates no consensus. </p><p>Using microarray analysis, Sjostrand et al. (2019) showed that maturation of bone marrow-derived macrophages (BMDMs) from Trim21 -/- mice was reduced in response to macrophage colony-stimulating factor (MCSF, or CSF2; 120420). Trim21 -/- BMDMs became hyporesponsive to stimulation with the TLR2 ligand PAM3CSK4, indicating that Trim21 was necessary for optimal responses to TLR2 agonists. Trim21 -/- BMDMs also became hyporesponsive to stimulation with Mycobacterium bovis Bacillus Calmette-Guerin (BCG), suggesting that Trim21 was also necessary for full responses to more complex stimuli. </p><p>Park et al. (2020) reported that the transfer of human bronchial epithelial cells from stiff to soft substrates caused a downregulation of glycolysis via proteasomal degradation of the rate-limiting metabolic enzyme phosphofructokinase (PFK; see PFKP, 171840). PFK degradation was triggered by the disassembly of stress fibers, which released the PFK-targeting E3 ubiquitin ligase TRIM21. Transformed non-small-cell lung cancer cells, which maintain high glycolytic rates regardless of changing environmental mechanics, retained PFK expression by downregulating TRIM21, and by sequestering residual TRIM21 on a stress fiber subset that is insensitive to substrate stiffness. Park et al. (2020) concluded that their data revealed a mechanism by which glycolysis responds to architectural features of the actomyosin cytoskeleton, thus coupling cell metabolism to the mechanical properties of the surrounding tissue. These processes enable normal cells to tune energy production in variable microenvironments, whereas the resistance of the cytoskeleton in response to mechanical cues enables the persistence of high glycolytic rates in cancer cells despite constant alterations of the tumor tissue. </p>
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<h4>
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<strong>Biochemical Features</strong>
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<p>James et al. (2007) solved the crystal structure of the TRIM21 PRYSPRY domain in complex with Fc to 2.35-angstrom resolution. The PRYSPRY binding surface was formed by 6 extended loops, and mutation analysis showed that asp355, trp381, trp383, and phe450 were required for Fc binding. PRYSPRY bound the CH2-CH3 site of Fc, and the stoichiometry was 2 molecules of PRYSPRY to 1 Fc fragment. Binding between PRYSPRY and Fc was independent of pH from pH 8 to pH 5, but it was highly salt sensitive. James et al. (2007) hypothesized that during autoimmune disease, anti-TRIM21 antibodies bind epitopes in the RING and B-box domains of TRIM21 via their antigen-binding fragment (Fab) and also bind to the PRYSPRY domain of TRIM21 via their Fc portions. Simultaneous binding of Fab and Fc to TRIM21 is likely to occur between distinct TRIM21 molecules via an antibody bipolar bridging mechanism, a feature of pathogenic superantigens, and form large crosslinked immune complexes. </p>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Frank et al. (1993) determined that the TRIM21 gene contains at least 3 exons. The exon encoding the putative zinc fingers of the protein is separate from that encoding the leucine zipper. </p>
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<div>
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<h4>
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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 radioisotopic in situ hybridization, Frank et al. (1993) mapped the TRIM21 gene to chromosome 11p15.5. </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>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Frank et al. (1993) identified a RFLP of the TRIM21 gene and demonstrated that it was associated with SLE, primarily in black Americans. </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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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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Frank, M. B., Itoh, K., Fujisaku, A., Pontarotti, P., Mattei, M.-G., Neas, B. R.
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<strong>The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome 11, and its polymorphisms.</strong>
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Am. J. Hum. Genet. 52: 183-191, 1993.
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[PubMed: 8094596]
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Frank, M. B.
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<strong>Characterization of DNA binding properties and sequence specificity of the human 52 kDa Ro/SS-A (Ro52) zinc finger protein.</strong>
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Biochem. Biophys. Res. Commun. 259: 665-670, 1999.
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[PubMed: 10364476]
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[Full Text: https://doi.org/10.1006/bbrc.1999.0835]
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Itoh, K., Itoh, Y., Frank, M. B.
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<strong>Protein heterogeneity in the human Ro/SSA ribonucleoproteins: the 52- and 60-kD Ro/SSA autoantigens are encoded by separate genes.</strong>
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J. Clin. Invest. 87: 177-186, 1991.
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[PubMed: 1985094]
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[Full Text: https://doi.org/10.1172/JCI114968]
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James, L. C., Keeble, A. H., Khan, Z., Rhodes, D. A., Trowsdale, J.
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<strong>Structural basis for PRYSPRY-mediated tripartite motif (TRIM) protein function.</strong>
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Proc. Nat. Acad. Sci. 104: 6200-6205, 2007.
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[PubMed: 17400754]
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[Full Text: https://doi.org/10.1073/pnas.0609174104]
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Park, J. S., Burckhardt, C. J., Lazcano, R., Solis, L. M., Isogai, T., Li, L., Chen, C. S., Gao, B., Minna, J. D., Bachoo, R., DeBerardinis, R. J., Danuser, G.
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<strong>Mechanical regulation of glycolysis via cytoskeleton architecture.</strong>
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Nature 578: 621-626, 2020.
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[PubMed: 32051585]
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[Full Text: https://doi.org/10.1038/s41586-020-1998-1]
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Sjostrand, M., Carow, B., Nyberg, W. A., Covacu, R., Rottenberg, M. E., Espinosa, A.
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<strong>TRIM21 controls Toll-like receptor 2 responses in bone-marrow-derived macrophages.</strong>
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Immunology 159: 335-343, 2019.
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[PubMed: 31755557]
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[Full Text: https://doi.org/10.1111/imm.13157]
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Bao Lige - updated : 03/02/2022<br>Ada Hamosh - updated : 09/25/2020<br>Patricia A. Hartz - updated : 8/25/2008
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Victor A. McKusick : 3/1/1993
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