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Entry
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- *603433 - ZINC FINGER PROTEIN 143; ZNF143
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- OMIM
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<p>
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<span class="h4">*603433</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603433">Table View</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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000166478;t=ENST00000396602" 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=7702" 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=603433" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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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=ENSG00000166478;t=ENST00000396602" 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_001282656,NM_001282657,NM_003442,XM_005253121,XM_005253122,XM_011520349,XM_017018252,XM_017018253,XM_017018254,XM_017018255,XM_047427552,XM_047427553,XM_047427554,XM_047427555,XM_047427556,XM_047427557,XM_047427558,XM_047427559,XM_047427560,XM_047427561,XM_047427562" 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_003442" 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=603433" 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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<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=04578&isoform_id=04578_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/ZNF143" 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/3243079,10944889,11544640,18044946,116014328,119588995,158255702,194386266,229462806,530395773,530395775,544063385,544063389,767966486,1034575274,1034575276,1034575279,1034575281,2217284538,2217284541,2217284543,2217284545,2217284547,2217284549,2217284552,2217284554,2217284556,2217284558,2217284560,2462527418,2462527420,2462527422,2462527424,2462527426,2462527428,2462527430,2462527432,2462527434,2462527436,2462527438,2462527440,2462527442,2462527444,2462527446,2462527448,2462527450,2462527452" 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/P52747" 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 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=7702" 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=ENSG00000166478;t=ENST00000396602" 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=ZNF143" 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=ZNF143" 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+7702" 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/ZNF143" 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:7702" 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/7702" 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=ENST00000396602.7&hgg_start=9461012&hgg_end=9528524&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div 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 class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:12928" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603433[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=603433[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/ENSG00000166478" 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=ZNF143" 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=ZNF143" 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="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ZNF143" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ZNF143&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/PA37515" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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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:12928" 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:1277969" 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/ZNF143#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:1277969" 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/7702/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=7702" 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://zfin.org/ZDB-GENE-040426-1586" 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>
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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>
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</a>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7702" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=ZNF143&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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<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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603433
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</span>
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</span>
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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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ZINC FINGER PROTEIN 143; ZNF143
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</span>
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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SPH-BINDING FACTOR; SBF
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</span>
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</h4>
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<div>
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<br />
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ZNF143" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ZNF143</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/11/168?start=-3&limit=10&highlight=168">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=chr11:9461012-9528524&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'})">11:9,461,012-9,528,524</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="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. One abundant class of such transcriptional regulators resembles the Drosophila Kruppel segmentation gene product due to the presence of repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links. See ZNF91 (<a href="/entry/603971">603971</a>) for general information on zinc finger proteins.</p><p>ZNF143 is a transcriptional activator involved in regulation of coding and noncoding genes (summary by <a href="#2" class="mim-tip-reference" title="Pupavac, M., Watkins, D., Petrella, F., Fahiminiya, S., Janer, A., Cheung, W., Gingras, A. C., Pastinen, T., Muenzer, J., Majewski, J., Shoubridge, E. A., Rosenblatt, D. S. <strong>Inborn error of cobalamin metabolism associated with the intracellular accumulation of transcobalamin-bound cobalamin and mutations in ZNF143, which codes for a transcriptional activator.</strong> Hum. Mutat. 37: 976-982, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27349184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27349184</a>] [<a href="https://doi.org/10.1002/humu.23037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27349184">Pupavac et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27349184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Vertebrate small nuclear RNA (snRNA) gene promoters are among the most active known in growing cultured cells. Both proximal and distal sequence elements (PSE and DSE, respectively) in these promoters play a major role in transcription efficiency. The DSE, located approximately 200 bp upstream of the transcription start site, contains 2 adjacent elements, 1 of which is often an SPH motif. <a href="#6" class="mim-tip-reference" title="Schuster, C., Myslinski, E., Krol, A., Carbon, P. <strong>Staf, a novel zinc finger protein that activates the RNA polymerase III promoter of the selenocysteine tRNA gene.</strong> EMBO J. 14: 3777-3787, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7641696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7641696</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1995.tb00047.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7641696">Schuster et al. (1995)</a> isolated Staf (selenocysteine tRNA gene transcription-activating factor), a Xenopus transcription factor that binds to the SPH motifs present in the selenocysteine tRNA gene (TRSP; <a href="/entry/165060">165060</a>) promoter and activates the RNA polymerase III (pol III) promoter of the TRSP gene. Staf contains 7 zinc fingers and a separate acidic activation domain. <a href="#4" class="mim-tip-reference" title="Schaub, M., Myslinski, E., Schuster, C., Krol, A., Carbon, P. <strong>Staf, a promiscuous activator for enhanced transcription by RNA polymerase II and III.</strong> EMBO J. 16: 173-181, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9009278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9009278</a>] [<a href="https://doi.org/10.1093/emboj/16.1.173" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9009278">Schaub et al. (1997)</a> demonstrated that activation of the majority of vertebrate snRNA and snRNA-type genes, transcribed by RNA polymerase II (pol II) and pol III, also requires Staf. <a href="#5" class="mim-tip-reference" title="Schuster, C., Krol, A., Carbon, P. <strong>Two distinct domains in Staf to selectively activate small nuclear RNA-type and mRNA promoters.</strong> Molec. Cell. Biol. 18: 2650-2658, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9566884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9566884</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9566884[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/10.1128/MCB.18.5.2650" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9566884">Schuster et al. (1998)</a> reported that Staf can also stimulate expression from a pol II mRNA promoter. Staf contains 2 physically distinct activation domains: a 93-amino acid domain with 4 repeated units activates mRNA promoters, and an 18-amino acid segment acts specifically on pol II and pol III snRNA and snRNA-type promoters. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7641696+9009278+9566884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening a human insulinoma cDNA library with a degenerate oligonucleotide corresponding to the H/C linker sequence, <a href="#7" class="mim-tip-reference" title="Tommerup, N., Aagaard, L., Lund, C. L., Boel, E., Baxendale, S., Bates, G. P., Lehrach, H., Vissing, H. <strong>A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.</strong> Hum. Molec. Genet. 2: 1571-1575, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8268908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8268908</a>] [<a href="https://doi.org/10.1093/hmg/2.10.1571" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8268908">Tommerup et al. (1993)</a> isolated cDNAs potentially encoding zinc finger proteins. <a href="#8" class="mim-tip-reference" title="Tommerup, N., Vissing, H. <strong>Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders.</strong> Genomics 27: 259-264, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557990</a>] [<a href="https://doi.org/10.1006/geno.1995.1040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557990">Tommerup and Vissing (1995)</a> performed sequence analysis on a number of these cDNAs and identified several zinc finger protein genes, including ZNF143. The ZNF143 cDNA predicts a protein that is a GLI (<a href="/entry/165220">165220</a>)-type member of the Kruppel family of zinc finger proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7557990+8268908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching an EST database for human sequences related to Staf, <a href="#1" class="mim-tip-reference" title="Myslinski, E., Krol, A., Carbon, P. <strong>ZNF76 and ZNF143 are two human homologs of the transcriptional activator Staf.</strong> J. Biol. Chem. 273: 21998-22006, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9705341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9705341</a>] [<a href="https://doi.org/10.1074/jbc.273.34.21998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9705341">Myslinski et al. (1998)</a> found that 2 previously identified zinc finger proteins, ZNF76 (<a href="/entry/194549">194549</a>) and ZNF143 (<a href="#8" class="mim-tip-reference" title="Tommerup, N., Vissing, H. <strong>Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders.</strong> Genomics 27: 259-264, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557990</a>] [<a href="https://doi.org/10.1006/geno.1995.1040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557990">Tommerup and Vissing, 1995</a>), had homology to Staf. The predicted 626-amino acid ZNF143 protein shared 84% identity with Staf, while ZNF76 was only 64% identical, leading <a href="#1" class="mim-tip-reference" title="Myslinski, E., Krol, A., Carbon, P. <strong>ZNF76 and ZNF143 are two human homologs of the transcriptional activator Staf.</strong> J. Biol. Chem. 273: 21998-22006, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9705341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9705341</a>] [<a href="https://doi.org/10.1074/jbc.273.34.21998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9705341">Myslinski et al. (1998)</a> to conclude that ZNF143 is the human ortholog of Staf. Like Staf, both ZNF76 and ZNF143 contain 7 zinc fingers and an activation domain with the mRNA and snRNA activation regions. Both proteins bound Staf-responsive elements in vitro. When expressed in Drosophila cells, both activated transcription from an mRNA promoter through the Staf binding site. Chimeric ZNF76 and ZNF143 proteins activated a pol II mRNA promoter and snRNA pol II and pol III promoters in Xenopus oocytes. Northern blot analysis revealed that the 3.5-kb ZNF143 mRNA was expressed in all tissues tested, with the strongest expression in ovary. Independently, <a href="#3" class="mim-tip-reference" title="Rincon, J. C., Engler, S. K., Hargrove, B. W., Kunkel, G. R. <strong>Molecular cloning of a cDNA encoding human SPH-binding factor, a conserved protein that binds to the enhancer-like region of the U6 small nuclear RNA gene promoter.</strong> Nucleic Acids Res. 26: 4846-4852, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9776743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9776743</a>] [<a href="https://doi.org/10.1093/nar/26.21.4846" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9776743">Rincon et al. (1998)</a> isolated cDNAs encoding ZNF143, or SBF (SPH-binding factor). They found that antibodies against SBF inhibited assembly of native SBF-DNA complexes. In vitro, SBF stimulated transcription by pol III from a U6 (<a href="/entry/180692">180692</a>) snRNA gene promoter containing an SPH element. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7557990+9705341+9776743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#8" class="mim-tip-reference" title="Tommerup, N., Vissing, H. <strong>Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders.</strong> Genomics 27: 259-264, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557990</a>] [<a href="https://doi.org/10.1006/geno.1995.1040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557990">Tommerup and Vissing (1995)</a> mapped the ZNF143 gene to 11p15.4-p15.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7557990" 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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ZNF143, LEU284TER
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003037108 OR RCV004779413" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003037108, RCV004779413" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003037108...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to a disorder of cobalamin metabolism has not been confirmed.</p><p>In a 16-month-old Hispanic boy with a disorder of cobalamin metabolism, <a href="#2" class="mim-tip-reference" title="Pupavac, M., Watkins, D., Petrella, F., Fahiminiya, S., Janer, A., Cheung, W., Gingras, A. C., Pastinen, T., Muenzer, J., Majewski, J., Shoubridge, E. A., Rosenblatt, D. S. <strong>Inborn error of cobalamin metabolism associated with the intracellular accumulation of transcobalamin-bound cobalamin and mutations in ZNF143, which codes for a transcriptional activator.</strong> Hum. Mutat. 37: 976-982, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27349184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27349184</a>] [<a href="https://doi.org/10.1002/humu.23037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27349184">Pupavac et al. (2016)</a> identified compound heterozygous mutations in the ZNF143 gene: a c.851T-G transversion, resulting in a leu284-to-ter (L284X), and a c.1019C-T transition, resulting in a thr340-to-ile (T340I; <a href="#0002">603433.0002</a>) substitution. The mutations, which were identified by whole-exome sequencing, were confirmed by Sanger sequencing. Each parent was a carrier of one of the mutations. The L284X mutation was not present in the ExAC database and the T340I mutation was present once in heterozygous state. Sequencing of cDNA from patient fibroblasts showed decreased expression from the ZNF143 allele with the L284X mutation, suggesting that the mutation was subject to nonsense-mediated decay. Patient fibroblasts also had low expression of MMACHC (<a href="/entry/609831">609831</a>). Biotinylation proximity assays showed that HCFC1 (<a href="/entry/300019">300019</a>) was the most enriched in proximity to ZNF143. Functional studies in patient fibroblasts with labeled cyanocobalamin showed defective synthesis of both adenosylocobalamin and hydroxocobalamin. Transcobalamin-bound cyanocobalamin accumulated in the lysosomes of patient fibroblasts, indicating trapping in lysosomes. Clinical features in the patient included bilateral cleft palate, microcephaly, hypertelorism, hypospadias, and a ventricular septal defect at birth. He received a gastrostomy tube at 1 month of age. At 16 months of age, he had epilepsy, progressive encephalopathy, hypotonia, combined immunodeficiency, nystagmus, cortical blindness, hearing loss, and prolonged QT interval. Biochemical testing showed elevated urinary methylmalonic acid and increased serum methylmalonic acid and total homocysteine. He died at 26 months of age from hypercarbic respiratory failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27349184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003037109 OR RCV004779414" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003037109, RCV004779414" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003037109...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to a disorder of cobalamin metabolism has not been confirmed.</p><p>For discussion of the c.1019C-T transition in the ZNF143 gene, resulting in a thr340-to-ile (T340I), that was identified in compound heterozygous state in a patient with a disorder of cobalamin metabolism by <a href="#2" class="mim-tip-reference" title="Pupavac, M., Watkins, D., Petrella, F., Fahiminiya, S., Janer, A., Cheung, W., Gingras, A. C., Pastinen, T., Muenzer, J., Majewski, J., Shoubridge, E. A., Rosenblatt, D. S. <strong>Inborn error of cobalamin metabolism associated with the intracellular accumulation of transcobalamin-bound cobalamin and mutations in ZNF143, which codes for a transcriptional activator.</strong> Hum. Mutat. 37: 976-982, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27349184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27349184</a>] [<a href="https://doi.org/10.1002/humu.23037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27349184">Pupavac et al. (2016)</a>, see <a href="#0001">603433.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27349184" 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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<strong>ZNF76 and ZNF143 are two human homologs of the transcriptional activator Staf.</strong>
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J. Biol. Chem. 273: 21998-22006, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9705341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9705341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9705341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.273.34.21998" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Pupavac2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pupavac, M., Watkins, D., Petrella, F., Fahiminiya, S., Janer, A., Cheung, W., Gingras, A. C., Pastinen, T., Muenzer, J., Majewski, J., Shoubridge, E. A., Rosenblatt, D. S.
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<strong>Inborn error of cobalamin metabolism associated with the intracellular accumulation of transcobalamin-bound cobalamin and mutations in ZNF143, which codes for a transcriptional activator.</strong>
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Hum. Mutat. 37: 976-982, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27349184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27349184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27349184" 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/10.1002/humu.23037" target="_blank">Full Text</a>]
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<a id="Rincon1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rincon, J. C., Engler, S. K., Hargrove, B. W., Kunkel, G. R.
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<strong>Molecular cloning of a cDNA encoding human SPH-binding factor, a conserved protein that binds to the enhancer-like region of the U6 small nuclear RNA gene promoter.</strong>
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Nucleic Acids Res. 26: 4846-4852, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9776743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9776743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9776743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/26.21.4846" target="_blank">Full Text</a>]
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<a id="Schaub1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schaub, M., Myslinski, E., Schuster, C., Krol, A., Carbon, P.
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<strong>Staf, a promiscuous activator for enhanced transcription by RNA polymerase II and III.</strong>
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EMBO J. 16: 173-181, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9009278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9009278</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9009278" 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/16.1.173" target="_blank">Full Text</a>]
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<a id="Schuster1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schuster, C., Krol, A., Carbon, P.
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<strong>Two distinct domains in Staf to selectively activate small nuclear RNA-type and mRNA promoters.</strong>
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Molec. Cell. Biol. 18: 2650-2658, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9566884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9566884</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9566884[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=9566884" 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/10.1128/MCB.18.5.2650" target="_blank">Full Text</a>]
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<a id="Schuster1995" class="mim-anchor"></a>
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<p class="mim-text-font">
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Schuster, C., Myslinski, E., Krol, A., Carbon, P.
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<strong>Staf, a novel zinc finger protein that activates the RNA polymerase III promoter of the selenocysteine tRNA gene.</strong>
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EMBO J. 14: 3777-3787, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7641696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7641696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7641696" 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/10.1002/j.1460-2075.1995.tb00047.x" target="_blank">Full Text</a>]
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<a id="Tommerup1993" class="mim-anchor"></a>
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Tommerup, N., Aagaard, L., Lund, C. L., Boel, E., Baxendale, S., Bates, G. P., Lehrach, H., Vissing, H.
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<strong>A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.</strong>
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Hum. Molec. Genet. 2: 1571-1575, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8268908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8268908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8268908" 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/hmg/2.10.1571" target="_blank">Full Text</a>]
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<a id="Tommerup1995" class="mim-anchor"></a>
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Tommerup, N., Vissing, H.
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<strong>Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders.</strong>
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Genomics 27: 259-264, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557990</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7557990" 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.1995.1040" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/26/2024
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patti M. Sherman - updated : 7/29/1999
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Creation Date:
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<span class="mim-text-font">
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Rebekah S. Rasooly : 1/14/1999
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 09/26/2024
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<span class="mim-text-font">
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carol : 08/26/2019<br>terry : 12/03/1999<br>mgross : 7/30/1999<br>psherman : 7/29/1999<br>alopez : 1/14/1999
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<span class="mim-font">
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<strong>*</strong> 603433
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<h3>
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ZINC FINGER PROTEIN 143; ZNF143
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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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SPH-BINDING FACTOR; SBF
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ZNF143</em></strong>
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<em>
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Cytogenetic location: 11p15.4
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:9,461,012-9,528,524 </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>Description</strong>
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<p>Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. One abundant class of such transcriptional regulators resembles the Drosophila Kruppel segmentation gene product due to the presence of repeated Cys2-His2 (C2H2) zinc finger domains that are connected by conserved sequences, called H/C links. See ZNF91 (603971) for general information on zinc finger proteins.</p><p>ZNF143 is a transcriptional activator involved in regulation of coding and noncoding genes (summary by Pupavac et al., 2016). </p>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Vertebrate small nuclear RNA (snRNA) gene promoters are among the most active known in growing cultured cells. Both proximal and distal sequence elements (PSE and DSE, respectively) in these promoters play a major role in transcription efficiency. The DSE, located approximately 200 bp upstream of the transcription start site, contains 2 adjacent elements, 1 of which is often an SPH motif. Schuster et al. (1995) isolated Staf (selenocysteine tRNA gene transcription-activating factor), a Xenopus transcription factor that binds to the SPH motifs present in the selenocysteine tRNA gene (TRSP; 165060) promoter and activates the RNA polymerase III (pol III) promoter of the TRSP gene. Staf contains 7 zinc fingers and a separate acidic activation domain. Schaub et al. (1997) demonstrated that activation of the majority of vertebrate snRNA and snRNA-type genes, transcribed by RNA polymerase II (pol II) and pol III, also requires Staf. Schuster et al. (1998) reported that Staf can also stimulate expression from a pol II mRNA promoter. Staf contains 2 physically distinct activation domains: a 93-amino acid domain with 4 repeated units activates mRNA promoters, and an 18-amino acid segment acts specifically on pol II and pol III snRNA and snRNA-type promoters. </p><p>By screening a human insulinoma cDNA library with a degenerate oligonucleotide corresponding to the H/C linker sequence, Tommerup et al. (1993) isolated cDNAs potentially encoding zinc finger proteins. Tommerup and Vissing (1995) performed sequence analysis on a number of these cDNAs and identified several zinc finger protein genes, including ZNF143. The ZNF143 cDNA predicts a protein that is a GLI (165220)-type member of the Kruppel family of zinc finger proteins. </p><p>By searching an EST database for human sequences related to Staf, Myslinski et al. (1998) found that 2 previously identified zinc finger proteins, ZNF76 (194549) and ZNF143 (Tommerup and Vissing, 1995), had homology to Staf. The predicted 626-amino acid ZNF143 protein shared 84% identity with Staf, while ZNF76 was only 64% identical, leading Myslinski et al. (1998) to conclude that ZNF143 is the human ortholog of Staf. Like Staf, both ZNF76 and ZNF143 contain 7 zinc fingers and an activation domain with the mRNA and snRNA activation regions. Both proteins bound Staf-responsive elements in vitro. When expressed in Drosophila cells, both activated transcription from an mRNA promoter through the Staf binding site. Chimeric ZNF76 and ZNF143 proteins activated a pol II mRNA promoter and snRNA pol II and pol III promoters in Xenopus oocytes. Northern blot analysis revealed that the 3.5-kb ZNF143 mRNA was expressed in all tissues tested, with the strongest expression in ovary. Independently, Rincon et al. (1998) isolated cDNAs encoding ZNF143, or SBF (SPH-binding factor). They found that antibodies against SBF inhibited assembly of native SBF-DNA complexes. In vitro, SBF stimulated transcription by pol III from a U6 (180692) snRNA gene promoter containing an SPH element. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Tommerup and Vissing (1995) mapped the ZNF143 gene to 11p15.4-p15.3. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between mutation in the ZNF143 gene and a disorder of cobalamin metabolism, see 603433.0001 and 603433.0002.</p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>2 Selected Examples):</strong>
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</h4>
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<span class="mim-font">
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<strong>.0001 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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ZNF143, LEU284TER
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<br />
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ClinVar: RCV003037108, RCV004779413
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<p>This variant is classified as a variant of unknown significance because its contribution to a disorder of cobalamin metabolism has not been confirmed.</p><p>In a 16-month-old Hispanic boy with a disorder of cobalamin metabolism, Pupavac et al. (2016) identified compound heterozygous mutations in the ZNF143 gene: a c.851T-G transversion, resulting in a leu284-to-ter (L284X), and a c.1019C-T transition, resulting in a thr340-to-ile (T340I; 603433.0002) substitution. The mutations, which were identified by whole-exome sequencing, were confirmed by Sanger sequencing. Each parent was a carrier of one of the mutations. The L284X mutation was not present in the ExAC database and the T340I mutation was present once in heterozygous state. Sequencing of cDNA from patient fibroblasts showed decreased expression from the ZNF143 allele with the L284X mutation, suggesting that the mutation was subject to nonsense-mediated decay. Patient fibroblasts also had low expression of MMACHC (609831). Biotinylation proximity assays showed that HCFC1 (300019) was the most enriched in proximity to ZNF143. Functional studies in patient fibroblasts with labeled cyanocobalamin showed defective synthesis of both adenosylocobalamin and hydroxocobalamin. Transcobalamin-bound cyanocobalamin accumulated in the lysosomes of patient fibroblasts, indicating trapping in lysosomes. Clinical features in the patient included bilateral cleft palate, microcephaly, hypertelorism, hypospadias, and a ventricular septal defect at birth. He received a gastrostomy tube at 1 month of age. At 16 months of age, he had epilepsy, progressive encephalopathy, hypotonia, combined immunodeficiency, nystagmus, cortical blindness, hearing loss, and prolonged QT interval. Biochemical testing showed elevated urinary methylmalonic acid and increased serum methylmalonic acid and total homocysteine. He died at 26 months of age from hypercarbic respiratory failure. </p>
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<span class="mim-font">
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<strong>.0002 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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ZNF143, THR340ILE
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<br />
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ClinVar: RCV003037109, RCV004779414
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</span>
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</div>
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<span class="mim-text-font">
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<p>This variant is classified as a variant of unknown significance because its contribution to a disorder of cobalamin metabolism has not been confirmed.</p><p>For discussion of the c.1019C-T transition in the ZNF143 gene, resulting in a thr340-to-ile (T340I), that was identified in compound heterozygous state in a patient with a disorder of cobalamin metabolism by Pupavac et al. (2016), see 603433.0001. </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Myslinski, E., Krol, A., Carbon, P.
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<strong>ZNF76 and ZNF143 are two human homologs of the transcriptional activator Staf.</strong>
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J. Biol. Chem. 273: 21998-22006, 1998.
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[PubMed: 9705341]
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[Full Text: https://doi.org/10.1074/jbc.273.34.21998]
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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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Pupavac, M., Watkins, D., Petrella, F., Fahiminiya, S., Janer, A., Cheung, W., Gingras, A. C., Pastinen, T., Muenzer, J., Majewski, J., Shoubridge, E. A., Rosenblatt, D. S.
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<strong>Inborn error of cobalamin metabolism associated with the intracellular accumulation of transcobalamin-bound cobalamin and mutations in ZNF143, which codes for a transcriptional activator.</strong>
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Hum. Mutat. 37: 976-982, 2016.
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[PubMed: 27349184]
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[Full Text: https://doi.org/10.1002/humu.23037]
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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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Rincon, J. C., Engler, S. K., Hargrove, B. W., Kunkel, G. R.
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<strong>Molecular cloning of a cDNA encoding human SPH-binding factor, a conserved protein that binds to the enhancer-like region of the U6 small nuclear RNA gene promoter.</strong>
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Nucleic Acids Res. 26: 4846-4852, 1998.
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[PubMed: 9776743]
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[Full Text: https://doi.org/10.1093/nar/26.21.4846]
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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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Schaub, M., Myslinski, E., Schuster, C., Krol, A., Carbon, P.
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<strong>Staf, a promiscuous activator for enhanced transcription by RNA polymerase II and III.</strong>
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EMBO J. 16: 173-181, 1997.
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[PubMed: 9009278]
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[Full Text: https://doi.org/10.1093/emboj/16.1.173]
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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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Schuster, C., Krol, A., Carbon, P.
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<strong>Two distinct domains in Staf to selectively activate small nuclear RNA-type and mRNA promoters.</strong>
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Molec. Cell. Biol. 18: 2650-2658, 1998.
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[PubMed: 9566884]
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[Full Text: https://doi.org/10.1128/MCB.18.5.2650]
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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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Schuster, C., Myslinski, E., Krol, A., Carbon, P.
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<strong>Staf, a novel zinc finger protein that activates the RNA polymerase III promoter of the selenocysteine tRNA gene.</strong>
|
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EMBO J. 14: 3777-3787, 1995.
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[PubMed: 7641696]
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[Full Text: https://doi.org/10.1002/j.1460-2075.1995.tb00047.x]
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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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Tommerup, N., Aagaard, L., Lund, C. L., Boel, E., Baxendale, S., Bates, G. P., Lehrach, H., Vissing, H.
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<strong>A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome.</strong>
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Hum. Molec. Genet. 2: 1571-1575, 1993.
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[PubMed: 8268908]
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[Full Text: https://doi.org/10.1093/hmg/2.10.1571]
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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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Tommerup, N., Vissing, H.
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<strong>Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders.</strong>
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Genomics 27: 259-264, 1995.
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[PubMed: 7557990]
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[Full Text: https://doi.org/10.1006/geno.1995.1040]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</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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Hilary J. Vernon - updated : 09/26/2024<br>Patti M. Sherman - updated : 7/29/1999
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</div>
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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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Rebekah S. Rasooly : 1/14/1999
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carol : 09/26/2024<br>carol : 08/26/2019<br>terry : 12/03/1999<br>mgross : 7/30/1999<br>psherman : 7/29/1999<br>alopez : 1/14/1999
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