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<title>
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Entry
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- *614724 - CENTROSOMAL PROTEIN, 63-KD; CEP63
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- OMIM
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<p>
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<span class="h4">*614724</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="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#cloning">Cloning and Expression</a>
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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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614724">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div id="mimExternalLinksFold" class="collapse in">
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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>
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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=ENSG00000182923;t=ENST00000675561" 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=80254" 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=614724" 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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<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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<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=ENSG00000182923;t=ENST00000675561" 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_001042383,NM_001042384,NM_001042400,NM_001353108,NM_001353109,NM_001353110,NM_001353111,NM_001353112,NM_001353113,NM_001353117,NM_001353118,NM_001353119,NM_001353120,NM_001353121,NM_001353122,NM_001353123,NM_001353124,NM_001353125,NM_001353126,NM_025180,NR_148352,NR_148353,NR_148354,NR_148355,XM_005247795,XM_005247797,XM_006713760,XM_017007247,XM_017007248,XM_017007249,XM_024453768,XM_024453769,XM_024453771,XM_024453772,XM_024453777,XM_024453778,XM_047448996,XM_047448998,XM_047448999,XM_047449000,XM_047449001,XM_047449002,XM_047449003,XM_047449005,XM_047449006,XM_047449007,XM_047449008,XM_047449009,XM_047449010,XM_047449011,XM_047449013,XM_047449014,XM_047449015,XR_002959589,XR_007095729,XR_007095730,XR_007095731,XR_007095732,XR_007095733,XR_007095734,XR_007095735" 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_001353108" 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=614724" 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://www.proteinatlas.org/search/CEP63" 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/10435387,10435761,15559363,16551877,22095367,40035314,46362521,51536414,56748851,109255226,109255236,109255239,119599542,119599543,119599544,119599545,119599546,119599547,119599548,530375317,530375321,578807753,1034635722,1034635724,1034635726,1212626308,1212626310,1212626312,1212626314,1212626316,1212626318,1212626320,1212626322,1212626324,1212626326,1212626328,1212626330,1212626332,1212626334,1212626336,1212626338,1370485248,1370485252,1370485258,1370485260,1370485276,2217346243,2217346247,2217346249,2217346255,2217346257,2217346259,2217346261,2217346263,2217346265,2217346267,2217346269,2217346271,2217346273,2217346275,2217346280,2217346284,2217346286,2217346288,2462592814,2462592816,2462592818,2462592820,2462592822,2462592824,2462592826,2462592828,2462592830,2462592832,2462592834,2462592836,2462592838,2462592840,2462592842,2462592844,2462592846,2462592848,2462592850,2462592852,2462592854,2462592856,2462592858,2462592860,2462592865,2462592869,2462592871,2462592873,2462592878" 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/Q96MT8" 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=80254" 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=ENSG00000182923;t=ENST00000675561" 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=CEP63" 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=CEP63" 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+80254" 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/CEP63" 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:80254" 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/80254" 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=chr3&hgg_gene=ENST00000675561.1&hgg_start=134485724&hgg_end=134782559&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=614724[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>
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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="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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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=614724[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/CEP63/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/ENSG00000182923" 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=CEP63" 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=CEP63" 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=CEP63" 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=CEP63&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/PA142672124" 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>
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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="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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</span>
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</div>
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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:25815" 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:2158560" 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/CEP63#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:2158560" 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/80254/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=80254" 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-040426-1154" 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>
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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="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CEP63&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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</div>
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</div>
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</div>
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</div>
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</div>
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</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>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
614724
|
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</span>
|
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</span>
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</div>
|
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</div>
|
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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CENTROSOMAL PROTEIN, 63-KD; CEP63
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CEP63" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CEP63</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/701?start=-3&limit=10&highlight=701">3q22.2</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:134485724-134782559&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'})">3:134,485,724-134,782,559</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/701?start=-3&limit=10&highlight=701">
|
|
3q22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Seckel syndrome 6
|
|
|
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<a href="/entry/614728"> 614728 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/614724" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>CEP63 is a subunit of the centrosome, the major microtubule-organizing center of animal cells. The centrosome influences cell shape, polarity, and motility, and it has a crucial function in cell division (summary by <a href="#1" class="mim-tip-reference" title="Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M. <strong>Proteomic characterization of the human centrosome by protein correlation profiling.</strong> Nature 426: 570-574, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14654843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14654843</a>] [<a href="https://doi.org/10.1038/nature02166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14654843">Andersen et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14654843" 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 mass spectrometric analysis of centrosomes purified from the KE-37 human lymphoblastic cell line, followed by database analysis, <a href="#1" class="mim-tip-reference" title="Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M. <strong>Proteomic characterization of the human centrosome by protein correlation profiling.</strong> Nature 426: 570-574, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14654843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14654843</a>] [<a href="https://doi.org/10.1038/nature02166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14654843">Andersen et al. (2003)</a> identified CEP63. The deduced protein contains 6 coiled-coil domains and has a calculated molecular mass of 63.4 kD. Fluorescence-tagged CEP63 associated with centrosomes in transfected U2OS cells, and salt extraction experiments suggested that CEP63 is a core centrosomal protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14654843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Loffler, H., Fechter, A., Matuszewska, M., Saffrich, R., Mistrik, M., Marhold, J., Hornung, C., Westermann, F., Bartek, J., Kramer, A. <strong>Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.</strong> Cancer Res. 71: 2129-2139, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21406398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21406398</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-10-2684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21406398">Loffler et al. (2011)</a> stated that there are 4 major splice variants of CEP63, as well as several minor variants. These 4 major variants encode proteins with 309 identical N-terminal amino acids and unique C termini. Quantitative RT-PCR showed that CEP63 variant 3, which encodes a 496-amino acid protein, was the most abundant CEP63 variant in BJ human fibroblasts and U2OS human osteosarcoma cells. Immunohistochemical analysis of several human cell lines showed that endogenous CEP63 localized exclusively to centrosomes throughout the cell cycle. Western blot analysis detected prominent CEP63 bands at apparent molecular masses of 63 and 58 kD, corresponding to isoforms 2 and 3, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21406398" 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 PCR, <a href="#5" class="mim-tip-reference" title="Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D'Santos, C., Woods, C. G., Gergely, F. <strong>A primary microcephaly protein complex forms a ring around parental centrioles.</strong> Nature Genet. 43: 1147-1153, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21983783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21983783">Sir et al. (2011)</a> found variable expression of all 4 CEP63 splice variants in adult and fetal brain and HeLa cell cDNA libraries. The deduced full-length CEP63 protein, which corresponds to CEP63 isoform 1 reported by <a href="#4" class="mim-tip-reference" title="Loffler, H., Fechter, A., Matuszewska, M., Saffrich, R., Mistrik, M., Marhold, J., Hornung, C., Westermann, F., Bartek, J., Kramer, A. <strong>Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.</strong> Cancer Res. 71: 2129-2139, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21406398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21406398</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-10-2684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21406398">Loffler et al. (2011)</a>, contains 703 amino acids and has 6 predicted coiled-coil domains. Super-resolution microscopy revealed that CEP63 colocalized with the centrosome duplication factor CEP152 (<a href="/entry/613529">613529</a>) in a discrete ring around the proximal end of the parental centriole in avian and human cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21983783+21406398" 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="Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D'Santos, C., Woods, C. G., Gergely, F. <strong>A primary microcephaly protein complex forms a ring around parental centrioles.</strong> Nature Genet. 43: 1147-1153, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21983783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21983783">Sir et al. (2011)</a> determined that the CEP63 gene contains 16 exons. It has a single CpG island, and the translational start site is in exon 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21983783" 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="#3" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 7/17/2012."None>Hartz (2012)</a> mapped the CEP63 gene to chromosome 3q22.2 based on an alignment of the CEP63 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK023448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK023448</a>) with the genomic sequence (GRCh37).</p>
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<p>Using small interfering RNA, time-lapse video microscopy, and immunohistochemical analysis, <a href="#4" class="mim-tip-reference" title="Loffler, H., Fechter, A., Matuszewska, M., Saffrich, R., Mistrik, M., Marhold, J., Hornung, C., Westermann, F., Bartek, J., Kramer, A. <strong>Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.</strong> Cancer Res. 71: 2129-2139, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21406398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21406398</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-10-2684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21406398">Loffler et al. (2011)</a> found that knockdown of CEP63 in U2OS cells resulted in loss of CDK1 (<a href="/entry/116940">116940</a>) localization at centrosomes, causing mitotic skipping, cell enlargement, and polyploidization. Conversely, overexpression of fluorescence-tagged CEP63 in U2OS cells resulted in centrosome amplification during interphase. Coimmunoprecipitation analysis and protein pull-down assays revealed direct interaction between CEP63 isoform 3 and CDK1. Deletion analysis revealed that the N-terminal 290 amino acids of CEP63, which are present in all 4 major CEP63 isoforms, were required for centrosomal localization and centrosome amplification. By examining CEP63 mRNA expression in 244 human neuroblastomas, <a href="#4" class="mim-tip-reference" title="Loffler, H., Fechter, A., Matuszewska, M., Saffrich, R., Mistrik, M., Marhold, J., Hornung, C., Westermann, F., Bartek, J., Kramer, A. <strong>Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.</strong> Cancer Res. 71: 2129-2139, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21406398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21406398</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-10-2684" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21406398">Loffler et al. (2011)</a> found a correlation between high CEP63 expression and advanced stage of the disease. In culture, CEP63 expression impaired the DNA damage response to replication stress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21406398" 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="Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D'Santos, C., Woods, C. G., Gergely, F. <strong>A primary microcephaly protein complex forms a ring around parental centrioles.</strong> Nature Genet. 43: 1147-1153, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21983783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21983783">Sir et al. (2011)</a> found that knockout of Cep63 in DT40 chicken B lymphocytes resulted in mitotic spindle defects, including monopolar and multipolar spindles. Cep63-knockout cells did not become depleted of centrosomes, suggesting that CEP63 is not a core centriole assembly factor. Several protein interaction assays revealed that the C-terminal part of full-length CEP63 bound CEP152 in HeLa and DT40 cells. Centrosomal localization of Cep152 was disrupted in cycling Cep63-knockout DT40 cells, and overexpression of human CEP152 restored centriole numbers and reversed the mitotic spindle phenotype of Cep63-knockout cells. <a href="#5" class="mim-tip-reference" title="Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D'Santos, C., Woods, C. G., Gergely, F. <strong>A primary microcephaly protein complex forms a ring around parental centrioles.</strong> Nature Genet. 43: 1147-1153, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21983783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21983783">Sir et al. (2011)</a> concluded that CEP63 is required for centrosomal localization of CEP152 and for centrosome duplication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21983783" 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 the centriolar satellite protein CEP63 as bait in a proximity interaction assay, <a href="#2" class="mim-tip-reference" title="Firat-Karalar, E., Rauniyar, N., Yates, J. R., III, Stearns, T. <strong>Proximity interactions among centrosome components identify regulators of centriole duplication.</strong> Curr. Biol. 24: 664-670, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24613305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24613305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24613305[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/10.1016/j.cub.2014.01.067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24613305">Firat-Karalar et al. (2014)</a> identified KIAA0753 (<a href="/entry/617112">617112</a>) and CCDC14 (<a href="/entry/617147">617147</a>). Coimmunoprecipitation analysis confirmed that KIAA0753 and CCDC14 interacted with CEP63 in HEK293T cells. Knockdown of KIAA0753 via small interfering RNA reduced CEP63 localization at centrosomes and inhibited centriole duplication in cycling U2OS cells. In contrast, knockdown of CCDC14 significantly increased CEP63 content at centrosomes and increased the number of cycling cells with more than 4 centrioles. <a href="#2" class="mim-tip-reference" title="Firat-Karalar, E., Rauniyar, N., Yates, J. R., III, Stearns, T. <strong>Proximity interactions among centrosome components identify regulators of centriole duplication.</strong> Curr. Biol. 24: 664-670, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24613305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24613305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24613305[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/10.1016/j.cub.2014.01.067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24613305">Firat-Karalar et al. (2014)</a> concluded that, during the cell cycle, KIAA0753 and CCDC14 positively and negative regulate centriole duplication, respectively, by regulating CEP63 levels at the centrosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24613305" 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 3 female cousins from a consanguineous Pakistani family with microcephaly and short stature mapping to chromosome 3q22 (Seckel syndrome-6; <a href="/entry/614728">614728</a>), <a href="#5" class="mim-tip-reference" title="Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D'Santos, C., Woods, C. G., Gergely, F. <strong>A primary microcephaly protein complex forms a ring around parental centrioles.</strong> Nature Genet. 43: 1147-1153, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21983783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21983783">Sir et al. (2011)</a> sequenced 3 candidate genes and identified homozygosity for a nonsense mutation in the CEP63 gene (<a href="#0001">614724.0001</a>). Centrosomal colocalization of CEP63 and CEP152 was found to be disrupted in CEP63-deficient patient cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21983783" 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 3 female cousins from a consanguineous Pakistani family with microcephaly and short stature (SCKL6; <a href="/entry/614728">614728</a>), <a href="#5" class="mim-tip-reference" title="Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D'Santos, C., Woods, C. G., Gergely, F. <strong>A primary microcephaly protein complex forms a ring around parental centrioles.</strong> Nature Genet. 43: 1147-1153, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21983783[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21983783">Sir et al. (2011)</a> identified homozygosity for a 129G-A transition in exon 4 of the CEP63 gene, resulting in a trp43-to-ter (W43X) substitution. CEP63-deficient patient-derived cells showed disruption of the normal pattern of colocalization of CEP63 and CEP152 (<a href="/entry/613529">613529</a>) in a discrete ring around the proximal end of the parent centriole. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21983783" 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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Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M.
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<strong>Proteomic characterization of the human centrosome by protein correlation profiling.</strong>
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Nature 426: 570-574, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14654843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14654843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14654843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature02166" target="_blank">Full Text</a>]
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Firat-Karalar, E., Rauniyar, N., Yates, J. R., III, Stearns, T.
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<strong>Proximity interactions among centrosome components identify regulators of centriole duplication.</strong>
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Curr. Biol. 24: 664-670, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24613305/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24613305</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24613305[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=24613305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Loffler, H., Fechter, A., Matuszewska, M., Saffrich, R., Mistrik, M., Marhold, J., Hornung, C., Westermann, F., Bartek, J., Kramer, A.
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<strong>Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.</strong>
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Cancer Res. 71: 2129-2139, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21406398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21406398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21406398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D'Santos, C., Woods, C. G., Gergely, F.
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<strong>A primary microcephaly protein complex forms a ring around parental centrioles.</strong>
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Nature Genet. 43: 1147-1153, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21983783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21983783</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21983783[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=21983783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Patricia A. Hartz - updated : 09/09/2016
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Marla J. F. O'Neill - updated : 7/18/2012
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Patricia A. Hartz : 7/17/2012
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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mgross : 09/09/2016<br>carol : 03/07/2014<br>carol : 7/18/2012<br>carol : 7/18/2012<br>mgross : 7/17/2012
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 614724
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CENTROSOMAL PROTEIN, 63-KD; CEP63
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CEP63</em></strong>
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</span>
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</p>
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</div>
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<div>
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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: 3q22.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:134,485,724-134,782,559 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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3q22.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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?Seckel syndrome 6
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</span>
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</td>
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<td>
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<span class="mim-font">
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614728
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CEP63 is a subunit of the centrosome, the major microtubule-organizing center of animal cells. The centrosome influences cell shape, polarity, and motility, and it has a crucial function in cell division (summary by Andersen et al., 2003). </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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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By mass spectrometric analysis of centrosomes purified from the KE-37 human lymphoblastic cell line, followed by database analysis, Andersen et al. (2003) identified CEP63. The deduced protein contains 6 coiled-coil domains and has a calculated molecular mass of 63.4 kD. Fluorescence-tagged CEP63 associated with centrosomes in transfected U2OS cells, and salt extraction experiments suggested that CEP63 is a core centrosomal protein. </p><p>Loffler et al. (2011) stated that there are 4 major splice variants of CEP63, as well as several minor variants. These 4 major variants encode proteins with 309 identical N-terminal amino acids and unique C termini. Quantitative RT-PCR showed that CEP63 variant 3, which encodes a 496-amino acid protein, was the most abundant CEP63 variant in BJ human fibroblasts and U2OS human osteosarcoma cells. Immunohistochemical analysis of several human cell lines showed that endogenous CEP63 localized exclusively to centrosomes throughout the cell cycle. Western blot analysis detected prominent CEP63 bands at apparent molecular masses of 63 and 58 kD, corresponding to isoforms 2 and 3, respectively. </p><p>Using PCR, Sir et al. (2011) found variable expression of all 4 CEP63 splice variants in adult and fetal brain and HeLa cell cDNA libraries. The deduced full-length CEP63 protein, which corresponds to CEP63 isoform 1 reported by Loffler et al. (2011), contains 703 amino acids and has 6 predicted coiled-coil domains. Super-resolution microscopy revealed that CEP63 colocalized with the centrosome duplication factor CEP152 (613529) in a discrete ring around the proximal end of the parental centriole in avian and human cell lines. </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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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sir et al. (2011) determined that the CEP63 gene contains 16 exons. It has a single CpG island, and the translational start site is in exon 3. </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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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hartz (2012) mapped the CEP63 gene to chromosome 3q22.2 based on an alignment of the CEP63 sequence (GenBank AK023448) with the genomic sequence (GRCh37).</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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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using small interfering RNA, time-lapse video microscopy, and immunohistochemical analysis, Loffler et al. (2011) found that knockdown of CEP63 in U2OS cells resulted in loss of CDK1 (116940) localization at centrosomes, causing mitotic skipping, cell enlargement, and polyploidization. Conversely, overexpression of fluorescence-tagged CEP63 in U2OS cells resulted in centrosome amplification during interphase. Coimmunoprecipitation analysis and protein pull-down assays revealed direct interaction between CEP63 isoform 3 and CDK1. Deletion analysis revealed that the N-terminal 290 amino acids of CEP63, which are present in all 4 major CEP63 isoforms, were required for centrosomal localization and centrosome amplification. By examining CEP63 mRNA expression in 244 human neuroblastomas, Loffler et al. (2011) found a correlation between high CEP63 expression and advanced stage of the disease. In culture, CEP63 expression impaired the DNA damage response to replication stress. </p><p>Sir et al. (2011) found that knockout of Cep63 in DT40 chicken B lymphocytes resulted in mitotic spindle defects, including monopolar and multipolar spindles. Cep63-knockout cells did not become depleted of centrosomes, suggesting that CEP63 is not a core centriole assembly factor. Several protein interaction assays revealed that the C-terminal part of full-length CEP63 bound CEP152 in HeLa and DT40 cells. Centrosomal localization of Cep152 was disrupted in cycling Cep63-knockout DT40 cells, and overexpression of human CEP152 restored centriole numbers and reversed the mitotic spindle phenotype of Cep63-knockout cells. Sir et al. (2011) concluded that CEP63 is required for centrosomal localization of CEP152 and for centrosome duplication. </p><p>Using the centriolar satellite protein CEP63 as bait in a proximity interaction assay, Firat-Karalar et al. (2014) identified KIAA0753 (617112) and CCDC14 (617147). Coimmunoprecipitation analysis confirmed that KIAA0753 and CCDC14 interacted with CEP63 in HEK293T cells. Knockdown of KIAA0753 via small interfering RNA reduced CEP63 localization at centrosomes and inhibited centriole duplication in cycling U2OS cells. In contrast, knockdown of CCDC14 significantly increased CEP63 content at centrosomes and increased the number of cycling cells with more than 4 centrioles. Firat-Karalar et al. (2014) concluded that, during the cell cycle, KIAA0753 and CCDC14 positively and negative regulate centriole duplication, respectively, by regulating CEP63 levels at the centrosome. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
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|
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|
|
|
|
<span class="mim-text-font">
|
|
<p>In 3 female cousins from a consanguineous Pakistani family with microcephaly and short stature mapping to chromosome 3q22 (Seckel syndrome-6; 614728), Sir et al. (2011) sequenced 3 candidate genes and identified homozygosity for a nonsense mutation in the CEP63 gene (614724.0001). Centrosomal colocalization of CEP63 and CEP152 was found to be disrupted in CEP63-deficient patient cells. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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|
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|
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>1 Selected Example):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 SECKEL SYNDROME 6 (1 family)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CEP63, TRP43TER
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs1164567042,
|
|
|
|
|
|
gnomAD: rs1164567042,
|
|
|
|
|
|
ClinVar: RCV000029178
|
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|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 female cousins from a consanguineous Pakistani family with microcephaly and short stature (SCKL6; 614728), Sir et al. (2011) identified homozygosity for a 129G-A transition in exon 4 of the CEP63 gene, resulting in a trp43-to-ter (W43X) substitution. CEP63-deficient patient-derived cells showed disruption of the normal pattern of colocalization of CEP63 and CEP152 (613529) in a discrete ring around the proximal end of the parent centriole. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</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">
|
|
Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., Mann, M.
|
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<strong>Proteomic characterization of the human centrosome by protein correlation profiling.</strong>
|
|
Nature 426: 570-574, 2003.
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[PubMed: 14654843]
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[Full Text: https://doi.org/10.1038/nature02166]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Firat-Karalar, E., Rauniyar, N., Yates, J. R., III, Stearns, T.
|
|
<strong>Proximity interactions among centrosome components identify regulators of centriole duplication.</strong>
|
|
Curr. Biol. 24: 664-670, 2014.
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[PubMed: 24613305]
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[Full Text: https://doi.org/10.1016/j.cub.2014.01.067]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
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<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 7/17/2012.
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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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Loffler, H., Fechter, A., Matuszewska, M., Saffrich, R., Mistrik, M., Marhold, J., Hornung, C., Westermann, F., Bartek, J., Kramer, A.
|
|
<strong>Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.</strong>
|
|
Cancer Res. 71: 2129-2139, 2011.
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[PubMed: 21406398]
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[Full Text: https://doi.org/10.1158/0008-5472.CAN-10-2684]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Sir, J.-H., Barr, A. R., Nicholas, A. K., Carvalho, O. P., Khurshid, M., Sossick, A., Reichelt, S., D'Santos, C., Woods, C. G., Gergely, F.
|
|
<strong>A primary microcephaly protein complex forms a ring around parental centrioles.</strong>
|
|
Nature Genet. 43: 1147-1153, 2011.
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[PubMed: 21983783]
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[Full Text: https://doi.org/10.1038/ng.971]
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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>
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</div>
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<div>
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<div class="row">
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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>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 09/09/2016<br>Marla J. F. O'Neill - updated : 7/18/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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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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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Patricia A. Hartz : 7/17/2012
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</span>
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</div>
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</div>
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</div>
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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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Edit History:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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|
mgross : 10/05/2016<br>mgross : 09/09/2016<br>carol : 03/07/2014<br>carol : 7/18/2012<br>carol : 7/18/2012<br>mgross : 7/17/2012
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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