2274 lines
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Entry
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- *610658 - TRIPARTITE MOTIF-CONTAINING PROTEIN 29; TRIM29
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- OMIM
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<p>
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<span class="h4">*610658</span>
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<br />
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<strong>Table of Contents</strong>
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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 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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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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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<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=ENSG00000137699;t=ENST00000341846" 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=23650" 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=610658" 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=ENSG00000137699;t=ENST00000341846" 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_001330382,NM_012101,XM_005271490,XM_011542733,XM_017017453,XM_047426688,XM_047426689" 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_012101" 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=610658" 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=10280&isoform_id=10280_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/TRIM29" 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/401763,12275864,12275866,16878314,17402909,62897741,116242825,119587901,119587902,119587903,119587904,127795774,221042728,221042734,221044816,530397963,767969931,1034572778,1060099259,2217282055,2217282057,2462524140,2462524142,2462524144,2462524146" 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/Q14134" 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=23650" 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=ENSG00000137699;t=ENST00000341846" 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=TRIM29" 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=TRIM29" 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+23650" 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/TRIM29" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:23650" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/23650" 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=ENST00000341846.10&hgg_start=120111286&hgg_end=120138113&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=610658[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610658[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/TRIM29/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000137699" 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=TRIM29" 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=TRIM29" 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=TRIM29&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/PA38218" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:17274" 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:1919419" 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/TRIM29#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:1919419" 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/23650/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=23650" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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<div><a href="https://reactome.org/content/query?q=TRIM29&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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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610658
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</span>
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TRIPARTITE MOTIF-CONTAINING PROTEIN 29; TRIM29
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ATAXIA-TELANGIECTASIA GROUP D-ASSOCIATED PROTEIN; ATDC
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</h4>
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<div>
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<br />
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TRIM29" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TRIM29</a></em></strong>
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</p>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/11/1020?start=-3&limit=10&highlight=1020">11q23.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:120111286-120138113&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'})">11:120,111,286-120,138,113</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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<br />
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="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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<p><a href="#4" class="mim-tip-reference" title="Kapp, L. N., Painter, R. B., Yu, L.-C., van Loon, N., Richard, C. W., III, James, M. R., Cox, D. R., Murnane, J. P. <strong>Cloning of a candidate gene for ataxia-telangiectasia group D.</strong> Am. J. Hum. Genet. 51: 45-54, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1609804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1609804</a>]" pmid="1609804">Kapp et al. (1992)</a> cloned ATDC, a candidate gene for ataxia-telangiectasia (AT; <a href="/entry/208900">208900</a>) that maps to the region of chromosome 11q23 containing the AT locus. They rescued integrated cosmid sequences that partially restored resistance to ionizing radiation in an AT cell line of complementation group D and, by screening a HeLa cell cDNA library, obtained an ATDC cDNA. RNA blot analysis detected ATDC transcripts of 1.8, 2.6, 3.0, 4.7, and 5.7 kb that were variably expressed among different cell lines. The 3.0-kb transcript, which corresponds to the cDNA isolated from HeLa cells, was the most abundant transcript in HeLa cells. Southern blot analysis indicated that ATDC is a single-copy gene in the human genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1609804" 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="Leonhardt, E. A., Kapp, L. N., Young, B. R., Murnane, J. P. <strong>Nucleotide sequence analysis of a candidate gene for ataxia-telangiectasia group D (ATDC).</strong> Genomics 19: 130-136, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188213</a>] [<a href="https://doi.org/10.1006/geno.1994.1022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188213">Leonhardt et al. (1994)</a> characterized the 3.0-kb ATDC cDNA isolated from HeLa cells (<a href="#4" class="mim-tip-reference" title="Kapp, L. N., Painter, R. B., Yu, L.-C., van Loon, N., Richard, C. W., III, James, M. R., Cox, D. R., Murnane, J. P. <strong>Cloning of a candidate gene for ataxia-telangiectasia group D.</strong> Am. J. Hum. Genet. 51: 45-54, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1609804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1609804</a>]" pmid="1609804">Kapp et al., 1992</a>). The deduced 588-amino acid protein contains 2 conserved zinc finger motifs and an adjacent leucine zipper motif. A rare 2.9-kb cDNA with a different exon 3 splice site encodes a protein lacking 34 amino acids at the end of the leucine zipper region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8188213+1609804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a B-box domain consensus sequence to screen EST databases for novel TRIM family members, <a href="#6" class="mim-tip-reference" title="Reymond, A., Meroni, G., Fantozzi, A., Merla, G., Cairo, S., Luzi, L., Riganelli, D., Zanaria, E., Messali, S., Cainarca, S., Guffanti, A., Minucci, S., Pelicci, P. G., Ballabio, A. <strong>The tripartite motif family identifies cell compartments.</strong> EMBO J. 20: 2140-2151, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11331580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11331580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11331580[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/10.1093/emboj/20.9.2140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11331580">Reymond et al. (2001)</a> identified and cloned mouse and human TRIM29. The deduced proteins contain type-1 and type-2 B-box domains and a coiled-coil region. Northern blot analysis detected a 3-kb transcript in placenta, prostate, and thymus. In a human teratocarcinoma cell line, TRIM29 localized to filamentous cytoplasmic structures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11331580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="geneFunction" class="mim-anchor"></a>
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<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</h4>
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<p><a href="#1" class="mim-tip-reference" title="Brzoska, P. M., Chen, H., Zhu, Y., Levin, N. A., Disatnik, M.-H., Mochly-Rosen, D., Murnane, J. P., Christman, M. F. <strong>The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor.</strong> Proc. Nat. Acad. Sci. 92: 7824-7828, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7644499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7644499</a>] [<a href="https://doi.org/10.1073/pnas.92.17.7824" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7644499">Brzoska et al. (1995)</a> found that the ATDC protein physically interacted with the intermediate filament protein vimentin (<a href="/entry/193060">193060</a>), a protein kinase C (<a href="/entry/176960">176960</a>) substrate and colocalizing protein, and with an inhibitor of protein kinase C, PKCI1 (<a href="/entry/601314">601314</a>). Indirect immunofluorescence analysis of cultured cells transfected with a plasmid encoding epitope-tagged ATDC localized the protein to vimentin filaments. <a href="#1" class="mim-tip-reference" title="Brzoska, P. M., Chen, H., Zhu, Y., Levin, N. A., Disatnik, M.-H., Mochly-Rosen, D., Murnane, J. P., Christman, M. F. <strong>The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor.</strong> Proc. Nat. Acad. Sci. 92: 7824-7828, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7644499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7644499</a>] [<a href="https://doi.org/10.1073/pnas.92.17.7824" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7644499">Brzoska et al. (1995)</a> suggested that the ATDC and PKCI1 proteins may be components of a single transduction pathway that is induced by ionizing radiation and mediated by protein kinase C. The fact that the ATM gene (<a href="/entry/607585">607585</a>) encodes a protein with a putative phosphatidylinositol 3-kinase domain and functions as a lipid-mediated signaling molecule is consistent with a model in which ATDC and PKC function downstream from ATM in this pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7644499" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a yeast 2-hybrid assay and coimmunoprecipitation experiments, <a href="#6" class="mim-tip-reference" title="Reymond, A., Meroni, G., Fantozzi, A., Merla, G., Cairo, S., Luzi, L., Riganelli, D., Zanaria, E., Messali, S., Cainarca, S., Guffanti, A., Minucci, S., Pelicci, P. G., Ballabio, A. <strong>The tripartite motif family identifies cell compartments.</strong> EMBO J. 20: 2140-2151, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11331580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11331580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11331580[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/10.1093/emboj/20.9.2140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11331580">Reymond et al. (2001)</a> showed that TRIM29 could form higher order homomeric complexes. The coiled-coil region of TRIM29 was indispensable for formation of high molecular mass complexes and for the specific intracellular localization of TRIM29. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11331580" 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 Northern blot analysis, <a href="#3" class="mim-tip-reference" title="Hosoi, Y., Kapp, L. N., Murnane, J. P., Matsumoto, Y., Enomoto, A., Ono, T., Miyagawa, K. <strong>Suppression of anchorage-independent growth by expression of the ataxia-telangiectasia group D complementing gene, ATDC.</strong> Biochem. Biophys. Res. Commun. 348: 728-734, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16890201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16890201</a>] [<a href="https://doi.org/10.1016/j.bbrc.2006.07.115" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16890201">Hosoi et al. (2006)</a> detected no ATDC transcript in 4 of 11 tumor cell lines, and using Western blot analysis, they detected no ATDC protein in 8 of these cell lines. Transfection of ATDC into 2 tumor cell lines lacking ATDC mRNA and protein expression suppressed colony formation in soft agar, suggesting that suppressed ATDC expression is associated with malignant phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16890201" 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 quantitative RT-PCR and immunoblot analyses, <a href="#2" class="mim-tip-reference" title="Dou, Y., Xing, J., Kong, G., Wang, G., Lou, X., Xiao, X., Vivier, E., Li, X. C., Zhang, Z. <strong>Identification of the E3 ligase TRIM29 as a critical checkpoint regulator of NK cell functions.</strong> J. Immun. 203: 873-880, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31270148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31270148</a>] [<a href="https://doi.org/10.4049/jimmunol.1900171" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31270148">Dou et al. (2019)</a> showed that Trim29 expression was induced in mouse NK cells in response to stimulation by Il12 (see <a href="/entry/161560">161560</a>) and Il18 (<a href="/entry/600953">600953</a>). Conditional deletion of Trim29 in mouse NK cells promoted production of Ifn-gamma (<a href="/entry/147570">147570</a>) in activated NK cells and enhanced host defense against virus infection, indicating that Trim29 negatively regulated expression of Ifn-gamma and inhibited NK functions. Production of Ifn-gamma in NK cells was dynamic and correlated with Tab2 (<a href="/entry/605101">605101</a>) expression. Deletion of Trim29 also stimulated expression of Tab2 in activated NK cells in mice, as Trim29 and Tab2 interacted through their respective C terminus and N terminus, and Trim29 induced Tab2 degradation by ubiquitination via K48 linkage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31270148" 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="#5" class="mim-tip-reference" title="Leonhardt, E. A., Kapp, L. N., Young, B. R., Murnane, J. P. <strong>Nucleotide sequence analysis of a candidate gene for ataxia-telangiectasia group D (ATDC).</strong> Genomics 19: 130-136, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188213</a>] [<a href="https://doi.org/10.1006/geno.1994.1022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188213">Leonhardt et al. (1994)</a> determined that the coding region of the ATDC gene contains a least 9 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188213" 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 sequencing a cosmid clone associated with ATDC, <a href="#4" class="mim-tip-reference" title="Kapp, L. N., Painter, R. B., Yu, L.-C., van Loon, N., Richard, C. W., III, James, M. R., Cox, D. R., Murnane, J. P. <strong>Cloning of a candidate gene for ataxia-telangiectasia group D.</strong> Am. J. Hum. Genet. 51: 45-54, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1609804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1609804</a>]" pmid="1609804">Kapp et al. (1992)</a> mapped the ATDC gene to the region between THY1 (<a href="/entry/188230">188230</a>) and D11S83 on chromosome 11q23. Using radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Reymond, A., Meroni, G., Fantozzi, A., Merla, G., Cairo, S., Luzi, L., Riganelli, D., Zanaria, E., Messali, S., Cainarca, S., Guffanti, A., Minucci, S., Pelicci, P. G., Ballabio, A. <strong>The tripartite motif family identifies cell compartments.</strong> EMBO J. 20: 2140-2151, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11331580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11331580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11331580[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/10.1093/emboj/20.9.2140" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11331580">Reymond et al. (2001)</a> mapped the TRIM29 gene to chromosome 11q22-q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11331580+1609804" 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>In mice expressing the Kras (<a href="/entry/190070">190070</a>) G12D mutation, known to cause pancreatic tumorigenesis, <a href="#7" class="mim-tip-reference" title="Wang, L., Yang, H., Zamperone, A., Diolaiti, D., Palmbos, P. L., Abel, E. V., Purohit, V., Dolgalev, I., Rhim, A. D., Ljungman, M., Hadju, C. H., Halbrook, C. J., Bar-Sagi, D., Pasca di Magliano, M., Crawford, H. C., Simeone, D. M. <strong>ATDC is required for the initiation of KRAS-induced pancreatic tumorigenesis.</strong> Genes Dev. 33: 641-655, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31048544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31048544</a>] [<a href="https://doi.org/10.1101/gad.323303.118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31048544">Wang et al. (2019)</a> conditionally ablated pancreas-specific Atdc expression and termed these mice KPCYA -/-. Ablation of Atdc did not affect pancreatic development and morphology, and KPCYA -/- mice were born at expected mendelian ratios and were phenotypically normal at birth. KPCYA -/- mice did not develop pancreatic adenocarcinoma (PDA) and had prolonged survival compared with controls. In Kras(G12D) Atdc-expressing mice, Atdc was upregulated in acinar cells during Kras G12D-induced formation of acinar-ductal metaplasia (ADM), and Atdc was required for progression of ADM to pancreatic intraepithelial neoplasia. Atdc promoted Kras G12D-induced ADM by upregulating Sox9 (<a href="/entry/608160">608160</a>) expression through activating beta-catenin (<a href="/entry/116806">116806</a>) signaling. As a result, knockout of Atdc resulted in downregulation of Sox9 and inhibited Kras G12D-induced ADM. <a href="#7" class="mim-tip-reference" title="Wang, L., Yang, H., Zamperone, A., Diolaiti, D., Palmbos, P. L., Abel, E. V., Purohit, V., Dolgalev, I., Rhim, A. D., Ljungman, M., Hadju, C. H., Halbrook, C. J., Bar-Sagi, D., Pasca di Magliano, M., Crawford, H. C., Simeone, D. M. <strong>ATDC is required for the initiation of KRAS-induced pancreatic tumorigenesis.</strong> Genes Dev. 33: 641-655, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31048544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31048544</a>] [<a href="https://doi.org/10.1101/gad.323303.118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31048544">Wang et al. (2019)</a> found that, in support of these results, expression of ATDC, beta-catenin, and SOX9 was increased in ADM lesions and PDA in the pancreatic tissue of human patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31048544" 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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Brzoska, P. M., Chen, H., Zhu, Y., Levin, N. A., Disatnik, M.-H., Mochly-Rosen, D., Murnane, J. P., Christman, M. F.
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<strong>The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor.</strong>
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Proc. Nat. Acad. Sci. 92: 7824-7828, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7644499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7644499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7644499" 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.92.17.7824" target="_blank">Full Text</a>]
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Dou, Y., Xing, J., Kong, G., Wang, G., Lou, X., Xiao, X., Vivier, E., Li, X. C., Zhang, Z.
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<strong>Identification of the E3 ligase TRIM29 as a critical checkpoint regulator of NK cell functions.</strong>
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J. Immun. 203: 873-880, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31270148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31270148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31270148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.4049/jimmunol.1900171" target="_blank">Full Text</a>]
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Hosoi, Y., Kapp, L. N., Murnane, J. P., Matsumoto, Y., Enomoto, A., Ono, T., Miyagawa, K.
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<strong>Suppression of anchorage-independent growth by expression of the ataxia-telangiectasia group D complementing gene, ATDC.</strong>
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Biochem. Biophys. Res. Commun. 348: 728-734, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16890201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16890201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16890201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bbrc.2006.07.115" target="_blank">Full Text</a>]
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Kapp, L. N., Painter, R. B., Yu, L.-C., van Loon, N., Richard, C. W., III, James, M. R., Cox, D. R., Murnane, J. P.
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<strong>Cloning of a candidate gene for ataxia-telangiectasia group D.</strong>
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Am. J. Hum. Genet. 51: 45-54, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1609804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1609804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1609804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Leonhardt, E. A., Kapp, L. N., Young, B. R., Murnane, J. P.
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<strong>Nucleotide sequence analysis of a candidate gene for ataxia-telangiectasia group D (ATDC).</strong>
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Genomics 19: 130-136, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188213" 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/geno.1994.1022" target="_blank">Full Text</a>]
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<a id="Reymond2001" class="mim-anchor"></a>
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Reymond, A., Meroni, G., Fantozzi, A., Merla, G., Cairo, S., Luzi, L., Riganelli, D., Zanaria, E., Messali, S., Cainarca, S., Guffanti, A., Minucci, S., Pelicci, P. G., Ballabio, A.
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<strong>The tripartite motif family identifies cell compartments.</strong>
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EMBO J. 20: 2140-2151, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11331580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11331580</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11331580[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=11331580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/emboj/20.9.2140" target="_blank">Full Text</a>]
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<a id="Wang2019" class="mim-anchor"></a>
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Wang, L., Yang, H., Zamperone, A., Diolaiti, D., Palmbos, P. L., Abel, E. V., Purohit, V., Dolgalev, I., Rhim, A. D., Ljungman, M., Hadju, C. H., Halbrook, C. J., Bar-Sagi, D., Pasca di Magliano, M., Crawford, H. C., Simeone, D. M.
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<strong>ATDC is required for the initiation of KRAS-induced pancreatic tumorigenesis.</strong>
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Genes Dev. 33: 641-655, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31048544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31048544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31048544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1101/gad.323303.118" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Bao Lige - updated : 11/01/2019
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Patricia A. Hartz : 12/18/2006
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mgross : 11/04/2019
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alopez : 11/01/2019<br>mgross : 12/18/2006
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TRIPARTITE MOTIF-CONTAINING PROTEIN 29; TRIM29
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ATAXIA-TELANGIECTASIA GROUP D-ASSOCIATED PROTEIN; ATDC
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<strong><em>HGNC Approved Gene Symbol: TRIM29</em></strong>
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Cytogenetic location: 11q23.3
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<strong>Cloning and Expression</strong>
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<p>Kapp et al. (1992) cloned ATDC, a candidate gene for ataxia-telangiectasia (AT; 208900) that maps to the region of chromosome 11q23 containing the AT locus. They rescued integrated cosmid sequences that partially restored resistance to ionizing radiation in an AT cell line of complementation group D and, by screening a HeLa cell cDNA library, obtained an ATDC cDNA. RNA blot analysis detected ATDC transcripts of 1.8, 2.6, 3.0, 4.7, and 5.7 kb that were variably expressed among different cell lines. The 3.0-kb transcript, which corresponds to the cDNA isolated from HeLa cells, was the most abundant transcript in HeLa cells. Southern blot analysis indicated that ATDC is a single-copy gene in the human genome. </p><p>Leonhardt et al. (1994) characterized the 3.0-kb ATDC cDNA isolated from HeLa cells (Kapp et al., 1992). The deduced 588-amino acid protein contains 2 conserved zinc finger motifs and an adjacent leucine zipper motif. A rare 2.9-kb cDNA with a different exon 3 splice site encodes a protein lacking 34 amino acids at the end of the leucine zipper region. </p><p>Using a B-box domain consensus sequence to screen EST databases for novel TRIM family members, Reymond et al. (2001) identified and cloned mouse and human TRIM29. The deduced proteins contain type-1 and type-2 B-box domains and a coiled-coil region. Northern blot analysis detected a 3-kb transcript in placenta, prostate, and thymus. In a human teratocarcinoma cell line, TRIM29 localized to filamentous cytoplasmic structures. </p>
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<p>Brzoska et al. (1995) found that the ATDC protein physically interacted with the intermediate filament protein vimentin (193060), a protein kinase C (176960) substrate and colocalizing protein, and with an inhibitor of protein kinase C, PKCI1 (601314). Indirect immunofluorescence analysis of cultured cells transfected with a plasmid encoding epitope-tagged ATDC localized the protein to vimentin filaments. Brzoska et al. (1995) suggested that the ATDC and PKCI1 proteins may be components of a single transduction pathway that is induced by ionizing radiation and mediated by protein kinase C. The fact that the ATM gene (607585) encodes a protein with a putative phosphatidylinositol 3-kinase domain and functions as a lipid-mediated signaling molecule is consistent with a model in which ATDC and PKC function downstream from ATM in this pathway. </p><p>Using a yeast 2-hybrid assay and coimmunoprecipitation experiments, Reymond et al. (2001) showed that TRIM29 could form higher order homomeric complexes. The coiled-coil region of TRIM29 was indispensable for formation of high molecular mass complexes and for the specific intracellular localization of TRIM29. </p><p>Using Northern blot analysis, Hosoi et al. (2006) detected no ATDC transcript in 4 of 11 tumor cell lines, and using Western blot analysis, they detected no ATDC protein in 8 of these cell lines. Transfection of ATDC into 2 tumor cell lines lacking ATDC mRNA and protein expression suppressed colony formation in soft agar, suggesting that suppressed ATDC expression is associated with malignant phenotype. </p><p>Using quantitative RT-PCR and immunoblot analyses, Dou et al. (2019) showed that Trim29 expression was induced in mouse NK cells in response to stimulation by Il12 (see 161560) and Il18 (600953). Conditional deletion of Trim29 in mouse NK cells promoted production of Ifn-gamma (147570) in activated NK cells and enhanced host defense against virus infection, indicating that Trim29 negatively regulated expression of Ifn-gamma and inhibited NK functions. Production of Ifn-gamma in NK cells was dynamic and correlated with Tab2 (605101) expression. Deletion of Trim29 also stimulated expression of Tab2 in activated NK cells in mice, as Trim29 and Tab2 interacted through their respective C terminus and N terminus, and Trim29 induced Tab2 degradation by ubiquitination via K48 linkage. </p>
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<p>Leonhardt et al. (1994) determined that the coding region of the ATDC gene contains a least 9 exons. </p>
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<strong>Mapping</strong>
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<p>By sequencing a cosmid clone associated with ATDC, Kapp et al. (1992) mapped the ATDC gene to the region between THY1 (188230) and D11S83 on chromosome 11q23. Using radiation hybrid analysis, Reymond et al. (2001) mapped the TRIM29 gene to chromosome 11q22-q23. </p>
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<p>In mice expressing the Kras (190070) G12D mutation, known to cause pancreatic tumorigenesis, Wang et al. (2019) conditionally ablated pancreas-specific Atdc expression and termed these mice KPCYA -/-. Ablation of Atdc did not affect pancreatic development and morphology, and KPCYA -/- mice were born at expected mendelian ratios and were phenotypically normal at birth. KPCYA -/- mice did not develop pancreatic adenocarcinoma (PDA) and had prolonged survival compared with controls. In Kras(G12D) Atdc-expressing mice, Atdc was upregulated in acinar cells during Kras G12D-induced formation of acinar-ductal metaplasia (ADM), and Atdc was required for progression of ADM to pancreatic intraepithelial neoplasia. Atdc promoted Kras G12D-induced ADM by upregulating Sox9 (608160) expression through activating beta-catenin (116806) signaling. As a result, knockout of Atdc resulted in downregulation of Sox9 and inhibited Kras G12D-induced ADM. Wang et al. (2019) found that, in support of these results, expression of ATDC, beta-catenin, and SOX9 was increased in ADM lesions and PDA in the pancreatic tissue of human patients. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Brzoska, P. M., Chen, H., Zhu, Y., Levin, N. A., Disatnik, M.-H., Mochly-Rosen, D., Murnane, J. P., Christman, M. F.
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<strong>The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and inhibitor.</strong>
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Proc. Nat. Acad. Sci. 92: 7824-7828, 1995.
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[PubMed: 7644499]
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[Full Text: https://doi.org/10.1073/pnas.92.17.7824]
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Dou, Y., Xing, J., Kong, G., Wang, G., Lou, X., Xiao, X., Vivier, E., Li, X. C., Zhang, Z.
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<strong>Identification of the E3 ligase TRIM29 as a critical checkpoint regulator of NK cell functions.</strong>
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J. Immun. 203: 873-880, 2019.
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[PubMed: 31270148]
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[Full Text: https://doi.org/10.4049/jimmunol.1900171]
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Hosoi, Y., Kapp, L. N., Murnane, J. P., Matsumoto, Y., Enomoto, A., Ono, T., Miyagawa, K.
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<strong>Suppression of anchorage-independent growth by expression of the ataxia-telangiectasia group D complementing gene, ATDC.</strong>
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Biochem. Biophys. Res. Commun. 348: 728-734, 2006.
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[PubMed: 16890201]
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[Full Text: https://doi.org/10.1016/j.bbrc.2006.07.115]
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Kapp, L. N., Painter, R. B., Yu, L.-C., van Loon, N., Richard, C. W., III, James, M. R., Cox, D. R., Murnane, J. P.
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<strong>Cloning of a candidate gene for ataxia-telangiectasia group D.</strong>
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Am. J. Hum. Genet. 51: 45-54, 1992.
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[PubMed: 1609804]
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Leonhardt, E. A., Kapp, L. N., Young, B. R., Murnane, J. P.
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<strong>Nucleotide sequence analysis of a candidate gene for ataxia-telangiectasia group D (ATDC).</strong>
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Genomics 19: 130-136, 1994.
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[PubMed: 8188213]
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[Full Text: https://doi.org/10.1006/geno.1994.1022]
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Reymond, A., Meroni, G., Fantozzi, A., Merla, G., Cairo, S., Luzi, L., Riganelli, D., Zanaria, E., Messali, S., Cainarca, S., Guffanti, A., Minucci, S., Pelicci, P. G., Ballabio, A.
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<strong>The tripartite motif family identifies cell compartments.</strong>
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EMBO J. 20: 2140-2151, 2001.
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[PubMed: 11331580]
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[Full Text: https://doi.org/10.1093/emboj/20.9.2140]
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Wang, L., Yang, H., Zamperone, A., Diolaiti, D., Palmbos, P. L., Abel, E. V., Purohit, V., Dolgalev, I., Rhim, A. D., Ljungman, M., Hadju, C. H., Halbrook, C. J., Bar-Sagi, D., Pasca di Magliano, M., Crawford, H. C., Simeone, D. M.
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<strong>ATDC is required for the initiation of KRAS-induced pancreatic tumorigenesis.</strong>
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Genes Dev. 33: 641-655, 2019.
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[PubMed: 31048544]
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[Full Text: https://doi.org/10.1101/gad.323303.118]
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Bao Lige - updated : 11/01/2019
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Patricia A. Hartz : 12/18/2006
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mgross : 11/04/2019<br>alopez : 11/01/2019<br>mgross : 12/18/2006
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