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Entry
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- *605493 - TRIPARTITE MOTIF-CONTAINING PROTEIN 3; TRIM3
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- OMIM
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<p>
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<span class="h4">*605493</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="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#animalModel">Animal Model</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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<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-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 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=ENSG00000110171;t=ENST00000345851" 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=10612" 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=605493" 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=ENSG00000110171;t=ENST00000345851" 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_001248006,NM_001248007,NM_006458,NM_033278,XM_017017098,XM_024448328,XM_047426257,XM_047426258,XM_047426259,XM_047426261,XM_047426262" 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_033278" 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=605493" 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=05690&isoform_id=05690_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/TRIM3" 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/3273699,12407371,12407373,12407375,32454737,32454739,34533260,66911192,119589115,119589116,119589117,119589118,119589119,119589120,119589121,119589122,119589123,158256228,193784121,215273906,221042410,221042794,226881032,227905400,351721563,351721595,444733199,1034571673,1370458622,2217280832,2217280834,2217280838,2217280840,2217280842,2462522528,2462522530,2462522532,2462522534,2462522536,2462522538,2462522540" 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/O75382" 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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</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=10612" 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=ENSG00000110171;t=ENST00000345851" 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=TRIM3" 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=TRIM3" 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+10612" 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/TRIM3" 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/10612" 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=ENST00000345851.8&hgg_start=6448613&hgg_end=6474459&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=605493[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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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605493[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/ENSG00000110171" 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=TRIM3" 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=TRIM3" 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=TRIM3&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/PA35534" 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="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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<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:10064" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0265356.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1860040" 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/TRIM3#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:1860040" 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/10612/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=10612" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003559;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070112-1132" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TRIM3&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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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<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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605493
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</span>
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</span>
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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 3; TRIM3
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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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RING FINGER PROTEIN 22; RNF22<br />
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BRAIN-EXPRESSED RING FINGER; BERP
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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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<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=TRIM3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRIM3</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/11/129?start=-3&limit=10&highlight=129">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=chr11:6448613-6474459&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'})">11:6,448,613-6,474,459</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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<div>
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<br />
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<div>
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<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="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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</h4>
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<p><a href="#3" class="mim-tip-reference" title="El-Husseini, A. E., Vincent, S. R. <strong>Cloning and characterization of a novel RING finger protein that interacts with class V myosins.</strong> J. Biol. Chem. 274: 19771-19777, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391919</a>] [<a href="https://doi.org/10.1074/jbc.274.28.19771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391919">El-Husseini and Vincent (1999)</a> screened rat cerebellar mRNA for nucleotide-binding proteins. Using the resulting RT-PCR product as a probe to screen a rat brain cDNA library, they isolated a novel ring finger cDNA, Rnf22, which they designated Berp. Berp encodes a member of the RBCC subgroup of RING finger proteins characterized by 3 motifs: an N-terminal ring finger, a B-box zinc finger, and a coiled-coil domain. The rat Berp protein contains a 130-amino acid region that is 41% identical to a repeat domain present in actin-binding proteins. Its C terminus contains 6 repeats that are predicted to form a circular beta-propeller similar to that in WD and kelch proteins. Northern blot analysis detected highest expression of Berp in cerebellum, with weaker expression in other brain regions as well as in lung, liver, kidney, and heart. Using a yeast 2-hybrid system and immunoprecipitation experiments, Berp was expressed in cytoplasm with a punctate pattern similar to that of endogenous myosin Va (MYO5A; <a href="/entry/160777">160777</a>), a pattern characteristic of organelle-associated proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391919" 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 rat Berp to screen a hippocampus cDNA library, followed by EST database analysis and RT-PCR of cerebellar total RNA, <a href="#4" class="mim-tip-reference" title="El-Husseini, A. E.-D., Fretier, P., Vincent, S. R. <strong>Cloning and characterization of a gene (RNF22) encoding a novel brain expressed ring finger protein (BERP) that maps to human chromosome 11p15.5.</strong> Genomics 71: 363-367, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11170753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11170753</a>] [<a href="https://doi.org/10.1006/geno.2000.6452" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11170753">El-Husseini et al. (2001)</a> cloned human BERP. The deduced 744-amino aid protein has an N-terminal RING finger, followed by B-box motifs, a coiled-coil domain, a putative actin-binding protein-like beta-sheet structure, and a predicted C-terminal 6-blade beta-propeller domain. Human BERP shares 98% amino acid identity with rat and mouse Berp and about 30% identity with the putative C. elegans ortholog. Northern blot analysis detected a major 3-kb transcript in human brain. EST database analysis suggested that BERP is also expressed in breast, heart, uterus, and testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11170753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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<div>
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<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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</h4>
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<span class="mim-text-font">
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<p><a href="#3" class="mim-tip-reference" title="El-Husseini, A. E., Vincent, S. R. <strong>Cloning and characterization of a novel RING finger protein that interacts with class V myosins.</strong> J. Biol. Chem. 274: 19771-19777, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391919</a>] [<a href="https://doi.org/10.1074/jbc.274.28.19771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391919">El-Husseini and Vincent (1999)</a> demonstrated that the RBCC domain of rat BERP could homodimerize. Additionally, the C-terminal repeats of Berp interacted with class V myosins. <a href="#3" class="mim-tip-reference" title="El-Husseini, A. E., Vincent, S. R. <strong>Cloning and characterization of a novel RING finger protein that interacts with class V myosins.</strong> J. Biol. Chem. 274: 19771-19777, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391919</a>] [<a href="https://doi.org/10.1074/jbc.274.28.19771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10391919">El-Husseini and Vincent (1999)</a> hypothesized that BERP may mediate interactions with various proteins, allowing cargo transport via a myosin V-mediated pathway. BERP interactions with class V myosins may also be important in organelle transport and neurite outgrowth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="El-Husseini, A. E., Kwasnicka, D., Yamada, T., Hirohashi, S., Vincent, S. R. <strong>BERP, a novel ring finger protein, binds to alpha-actinin-4.</strong> Biochem. Biophys. Res. Commun. 267: 906-911, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10673389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10673389</a>] [<a href="https://doi.org/10.1006/bbrc.1999.2045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10673389">El-Husseini et al. (2000)</a> demonstrated interaction between the RBCC domain of rat BERP and a rat brain cDNA for a nonmuscle isoform of alpha-actinin, Actn4 (<a href="/entry/604638">604638</a>). Using immunohistochemistry, <a href="#2" class="mim-tip-reference" title="El-Husseini, A. E., Kwasnicka, D., Yamada, T., Hirohashi, S., Vincent, S. R. <strong>BERP, a novel ring finger protein, binds to alpha-actinin-4.</strong> Biochem. Biophys. Res. Commun. 267: 906-911, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10673389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10673389</a>] [<a href="https://doi.org/10.1006/bbrc.1999.2045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10673389">El-Husseini et al. (2000)</a> showed that both Berp and Actn4 were expressed in a punctate pattern throughout the cytoplasm and neuritic processes of differentiated PC12 cells. They concluded that BERP may serve to anchor class V myosin to particular cell domains via its interaction with ACTN4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10673389" 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 mutation analysis and reporter gene assays, <a href="#1" class="mim-tip-reference" title="Cheung, C. C., Yang, C., Berger, T., Zaugg, K., Reilly, P., Elia, A. J., Wakeham, A., You-Ten, A., Chang, N., Li, L., Wan, Q., Mak, T. W. <strong>Identification of BERP (brain-expressed RING finger protein) as a p53 target gene that modulates seizure susceptibility through interacting with GABA(A) receptors.</strong> Proc. Nat. Acad. Sci. 107: 11883-11888, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20543135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20543135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20543135[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.1006529107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20543135">Cheung et al. (2010)</a> found that only 1 of 4 putative p53 (TP53; <a href="/entry/191170">191170</a>)-binding sites in the promoter region of human BERP activated BERP expression. Similarly, treatment with pentylenetetrazol upregulated Berp expression in p53 +/+ mouse hippocampal neurons, but not in p53 -/- hippocampal neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20543135" 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="El-Husseini, A. E.-D., Fretier, P., Vincent, S. R. <strong>Cloning and characterization of a gene (RNF22) encoding a novel brain expressed ring finger protein (BERP) that maps to human chromosome 11p15.5.</strong> Genomics 71: 363-367, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11170753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11170753</a>] [<a href="https://doi.org/10.1006/geno.2000.6452" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11170753">El-Husseini et al. (2001)</a> determined that the TRIM3 gene contains 11 coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11170753" 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="Cheung, C. C., Yang, C., Berger, T., Zaugg, K., Reilly, P., Elia, A. J., Wakeham, A., You-Ten, A., Chang, N., Li, L., Wan, Q., Mak, T. W. <strong>Identification of BERP (brain-expressed RING finger protein) as a p53 target gene that modulates seizure susceptibility through interacting with GABA(A) receptors.</strong> Proc. Nat. Acad. Sci. 107: 11883-11888, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20543135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20543135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20543135[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.1006529107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20543135">Cheung et al. (2010)</a> identified a functional p53-binding site within intron 1 of the TRIM3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20543135" 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>Using FISH, <a href="#4" class="mim-tip-reference" title="El-Husseini, A. E.-D., Fretier, P., Vincent, S. R. <strong>Cloning and characterization of a gene (RNF22) encoding a novel brain expressed ring finger protein (BERP) that maps to human chromosome 11p15.5.</strong> Genomics 71: 363-367, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11170753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11170753</a>] [<a href="https://doi.org/10.1006/geno.2000.6452" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11170753">El-Husseini et al. (2001)</a> mapped the TRIM3 gene to chromosome 11p15.5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11170753" 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="Cheung, C. C., Yang, C., Berger, T., Zaugg, K., Reilly, P., Elia, A. J., Wakeham, A., You-Ten, A., Chang, N., Li, L., Wan, Q., Mak, T. W. <strong>Identification of BERP (brain-expressed RING finger protein) as a p53 target gene that modulates seizure susceptibility through interacting with GABA(A) receptors.</strong> Proc. Nat. Acad. Sci. 107: 11883-11888, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20543135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20543135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20543135[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.1006529107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20543135">Cheung et al. (2010)</a> found that Berp -/- mice were born at the expected mendelian ratio and were viable, healthy, and fertile, with no gross or histologic abnormalities. Berp -/- mice were more resistant to pentylenetetrazol-induced seizures than wildtype mice. Patch-clamp recordings showed that cortical neurons from Berp -/- mice exhibited reduced mean miniature inhibitory postsynaptic current frequency and amplitude compared with wildtype neurons, which appeared to be due to reduced surface expression of the Gabrg2 (<a href="/entry/137164">137164</a>) GABA receptor subunit. Gabrg2 mRNA content was not altered in Berp -/- neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20543135" 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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Cheung, C. C., Yang, C., Berger, T., Zaugg, K., Reilly, P., Elia, A. J., Wakeham, A., You-Ten, A., Chang, N., Li, L., Wan, Q., Mak, T. W.
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<strong>Identification of BERP (brain-expressed RING finger protein) as a p53 target gene that modulates seizure susceptibility through interacting with GABA(A) receptors.</strong>
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Proc. Nat. Acad. Sci. 107: 11883-11888, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20543135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20543135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20543135[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=20543135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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El-Husseini, A. E., Kwasnicka, D., Yamada, T., Hirohashi, S., Vincent, S. R.
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<strong>BERP, a novel ring finger protein, binds to alpha-actinin-4.</strong>
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Biochem. Biophys. Res. Commun. 267: 906-911, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10673389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10673389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10673389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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El-Husseini, A. E., Vincent, S. R.
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<strong>Cloning and characterization of a novel RING finger protein that interacts with class V myosins.</strong>
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J. Biol. Chem. 274: 19771-19777, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10391919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10391919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10391919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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El-Husseini, A. E.-D., Fretier, P., Vincent, S. R.
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<strong>Cloning and characterization of a gene (RNF22) encoding a novel brain expressed ring finger protein (BERP) that maps to human chromosome 11p15.5.</strong>
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Genomics 71: 363-367, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11170753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11170753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11170753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dawn Watkins-Chow : 12/26/2000
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mgross : 6/22/2012<br>terry : 6/21/2012<br>carol : 10/26/2006<br>terry : 3/16/2004<br>carol : 12/26/2000
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<span class="mim-font">
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<strong>*</strong> 605493
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TRIPARTITE MOTIF-CONTAINING PROTEIN 3; TRIM3
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RING FINGER PROTEIN 22; RNF22<br />
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BRAIN-EXPRESSED RING FINGER; BERP
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TRIM3</em></strong>
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Cytogenetic location: 11p15.4
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:6,448,613-6,474,459 </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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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>El-Husseini and Vincent (1999) screened rat cerebellar mRNA for nucleotide-binding proteins. Using the resulting RT-PCR product as a probe to screen a rat brain cDNA library, they isolated a novel ring finger cDNA, Rnf22, which they designated Berp. Berp encodes a member of the RBCC subgroup of RING finger proteins characterized by 3 motifs: an N-terminal ring finger, a B-box zinc finger, and a coiled-coil domain. The rat Berp protein contains a 130-amino acid region that is 41% identical to a repeat domain present in actin-binding proteins. Its C terminus contains 6 repeats that are predicted to form a circular beta-propeller similar to that in WD and kelch proteins. Northern blot analysis detected highest expression of Berp in cerebellum, with weaker expression in other brain regions as well as in lung, liver, kidney, and heart. Using a yeast 2-hybrid system and immunoprecipitation experiments, Berp was expressed in cytoplasm with a punctate pattern similar to that of endogenous myosin Va (MYO5A; 160777), a pattern characteristic of organelle-associated proteins. </p><p>Using rat Berp to screen a hippocampus cDNA library, followed by EST database analysis and RT-PCR of cerebellar total RNA, El-Husseini et al. (2001) cloned human BERP. The deduced 744-amino aid protein has an N-terminal RING finger, followed by B-box motifs, a coiled-coil domain, a putative actin-binding protein-like beta-sheet structure, and a predicted C-terminal 6-blade beta-propeller domain. Human BERP shares 98% amino acid identity with rat and mouse Berp and about 30% identity with the putative C. elegans ortholog. Northern blot analysis detected a major 3-kb transcript in human brain. EST database analysis suggested that BERP is also expressed in breast, heart, uterus, and testis. </p>
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<strong>Gene Function</strong>
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<p>El-Husseini and Vincent (1999) demonstrated that the RBCC domain of rat BERP could homodimerize. Additionally, the C-terminal repeats of Berp interacted with class V myosins. El-Husseini and Vincent (1999) hypothesized that BERP may mediate interactions with various proteins, allowing cargo transport via a myosin V-mediated pathway. BERP interactions with class V myosins may also be important in organelle transport and neurite outgrowth. </p><p>El-Husseini et al. (2000) demonstrated interaction between the RBCC domain of rat BERP and a rat brain cDNA for a nonmuscle isoform of alpha-actinin, Actn4 (604638). Using immunohistochemistry, El-Husseini et al. (2000) showed that both Berp and Actn4 were expressed in a punctate pattern throughout the cytoplasm and neuritic processes of differentiated PC12 cells. They concluded that BERP may serve to anchor class V myosin to particular cell domains via its interaction with ACTN4. </p><p>Using mutation analysis and reporter gene assays, Cheung et al. (2010) found that only 1 of 4 putative p53 (TP53; 191170)-binding sites in the promoter region of human BERP activated BERP expression. Similarly, treatment with pentylenetetrazol upregulated Berp expression in p53 +/+ mouse hippocampal neurons, but not in p53 -/- hippocampal neurons. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>El-Husseini et al. (2001) determined that the TRIM3 gene contains 11 coding exons. </p><p>Cheung et al. (2010) identified a functional p53-binding site within intron 1 of the TRIM3 gene. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Using FISH, El-Husseini et al. (2001) mapped the TRIM3 gene to chromosome 11p15.5. </p>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<p>Cheung et al. (2010) found that Berp -/- mice were born at the expected mendelian ratio and were viable, healthy, and fertile, with no gross or histologic abnormalities. Berp -/- mice were more resistant to pentylenetetrazol-induced seizures than wildtype mice. Patch-clamp recordings showed that cortical neurons from Berp -/- mice exhibited reduced mean miniature inhibitory postsynaptic current frequency and amplitude compared with wildtype neurons, which appeared to be due to reduced surface expression of the Gabrg2 (137164) GABA receptor subunit. Gabrg2 mRNA content was not altered in Berp -/- neurons. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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Cheung, C. C., Yang, C., Berger, T., Zaugg, K., Reilly, P., Elia, A. J., Wakeham, A., You-Ten, A., Chang, N., Li, L., Wan, Q., Mak, T. W.
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|
<strong>Identification of BERP (brain-expressed RING finger protein) as a p53 target gene that modulates seizure susceptibility through interacting with GABA(A) receptors.</strong>
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Proc. Nat. Acad. Sci. 107: 11883-11888, 2010.
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[PubMed: 20543135]
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[Full Text: https://doi.org/10.1073/pnas.1006529107]
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<li>
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<p class="mim-text-font">
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El-Husseini, A. E., Kwasnicka, D., Yamada, T., Hirohashi, S., Vincent, S. R.
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<strong>BERP, a novel ring finger protein, binds to alpha-actinin-4.</strong>
|
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Biochem. Biophys. Res. Commun. 267: 906-911, 2000.
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[PubMed: 10673389]
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[Full Text: https://doi.org/10.1006/bbrc.1999.2045]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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El-Husseini, A. E., Vincent, S. R.
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<strong>Cloning and characterization of a novel RING finger protein that interacts with class V myosins.</strong>
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J. Biol. Chem. 274: 19771-19777, 1999.
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[PubMed: 10391919]
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[Full Text: https://doi.org/10.1074/jbc.274.28.19771]
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</p>
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<li>
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<p class="mim-text-font">
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El-Husseini, A. E.-D., Fretier, P., Vincent, S. R.
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<strong>Cloning and characterization of a gene (RNF22) encoding a novel brain expressed ring finger protein (BERP) that maps to human chromosome 11p15.5.</strong>
|
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Genomics 71: 363-367, 2001.
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[PubMed: 11170753]
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[Full Text: https://doi.org/10.1006/geno.2000.6452]
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<span class="text-nowrap mim-text-font">
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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 : 6/21/2012
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</span>
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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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Dawn Watkins-Chow : 12/26/2000
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alopez : 10/02/2015<br>mgross : 6/22/2012<br>terry : 6/21/2012<br>carol : 10/26/2006<br>terry : 3/16/2004<br>carol : 12/26/2000
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