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<title>
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Entry
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- *611423 - CENTROSOMAL PROTEIN, 135-KD; CEP135
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- OMIM
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<p>
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<span class="h4">*611423</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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/611423">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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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 class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000174799;t=ENST00000257287" 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=9662" 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=611423" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000174799;t=ENST00000257287" 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_025009,XM_005265788,XM_006714055,XM_011534412" 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_025009" 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=611423" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=11097&isoform_id=11097_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/CEP135" 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/40788309,50083279,51571893,62020284,187953263,187956703,296434460,530376879,578808689,767930779,2462599864,2462599866,2462599868" 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/Q66GS9" 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=9662" 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=ENSG00000174799;t=ENST00000257287" 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=CEP135" 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=CEP135" 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+9662" 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/CEP135" 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:9662" 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/9662" 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=chr4&hgg_gene=ENST00000257287.5&hgg_start=55948945&hgg_end=56033361&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=611423[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=611423[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/CEP135/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/ENSG00000174799" 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.gwascentral.org/search?q=CEP135" 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=CEP135" 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=CEP135&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/PA128394551" 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">
|
|
<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:29086" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0036480.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2681869" 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/CEP135#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:2681869" 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/9662/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=9662" 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-041210-325" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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=CEP135&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>
|
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611423
|
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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, 135-KD; CEP135
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
KIAA0635
|
|
</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<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=CEP135" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CEP135</a></em></strong>
|
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</span>
|
|
</p>
|
|
</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/4/234?start=-3&limit=10&highlight=234">4q12</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:55948945-56033361&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'})">4:55,948,945-56,033,361</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>
|
|
</div>
|
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|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
<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">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/234?start=-3&limit=10&highlight=234">
|
|
4q12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Microcephaly 8, primary, autosomal recessive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614673"> 614673 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
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</tbody>
|
|
</table>
|
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</div>
|
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</div>
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<div>
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<p>CEP135, SASS6 (<a href="/entry/609321">609321</a>), and CPAP (CENPJ; <a href="/entry/609279">609279</a>) make up an ancestral module that forms the core centriole and basal body structure with 9-fold symmetry. CEP135 has a critical function in early centriole and basal body assembly (summary by <a href="#2" class="mim-tip-reference" title="Carvalho-Santos, Z., Machado, P., Branco, P., Tavares-Cadete, F., Rodrigues-Martins, A., Pereira-Leal, J. B., Bettencourt-Dias, M. <strong>Stepwise evolution of the centriole-assembly pathway.</strong> J. Cell Sci. 123: 1414-1426, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20392737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20392737</a>] [<a href="https://doi.org/10.1242/jcs.064931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20392737">Carvalho-Santos et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20392737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#5" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 169-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>] [<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734811">Ishikawa et al. (1998)</a> cloned CEP135, which they designated KIAA0635. The transcript contains repetitive elements at both the 5-prime and 3-prime UTRs, and the deduced protein contains 846 amino acids. RT-PCR detected variable CEP135 expression in all tissues examined, with highest expression in kidney, testis, and ovary, and lowest expression in brain and spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734811" 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 mass spectrometry and proteomics to identify protein components of interphase centrosomes isolated from a human lymphoblastic cell line, <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 CEP135 as a centrosomal component. The predicted molecular mass was 135 kD. Imaging confirmed that fluorescence- and epitope-tagged CEP135 localized to centrosomes in a human osteoblastoma cell line. <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="Hussain, M. S., Baig, S. M., Neumann, S., Nurnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmuller, J., Frommolt, P., Thiele, H., Noegel, A. A., Nurnberg, P. <strong>A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.</strong> Am. J. Hum. Genet. 90: 871-878, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22521416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22521416</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22521416[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.ajhg.2012.03.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22521416">Hussain et al. (2012)</a> stated that the open reading frame of the CEP135 gene consists of 1,140 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22521416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Carvalho-Santos, Z., Machado, P., Branco, P., Tavares-Cadete, F., Rodrigues-Martins, A., Pereira-Leal, J. B., Bettencourt-Dias, M. <strong>Stepwise evolution of the centriole-assembly pathway.</strong> J. Cell Sci. 123: 1414-1426, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20392737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20392737</a>] [<a href="https://doi.org/10.1242/jcs.064931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20392737">Carvalho-Santos et al. (2010)</a> reported that CEP135 contains long coiled-coil domains. By database analysis, they identified N- and C-terminal domains within the coiled-coil regions that were conserved in vertebrates. Orthologs of CEP135 were not detected in several invertebrates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20392737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Hussain, M. S., Baig, S. M., Neumann, S., Nurnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmuller, J., Frommolt, P., Thiele, H., Noegel, A. A., Nurnberg, P. <strong>A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.</strong> Am. J. Hum. Genet. 90: 871-878, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22521416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22521416</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22521416[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.ajhg.2012.03.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22521416">Hussain et al. (2012)</a> stated that the CEP135 gene contains 26 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22521416" 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 radiation hybrid analysis, <a href="#5" class="mim-tip-reference" title="Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 169-176, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>] [<a href="https://doi.org/10.1093/dnares/5.3.169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734811">Ishikawa et al. (1998)</a> mapped the CEP135 gene to chromosome 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734811" 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="Hussain, M. S., Baig, S. M., Neumann, S., Nurnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmuller, J., Frommolt, P., Thiele, H., Noegel, A. A., Nurnberg, P. <strong>A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.</strong> Am. J. Hum. Genet. 90: 871-878, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22521416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22521416</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22521416[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.ajhg.2012.03.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22521416">Hussain et al. (2012)</a> stated that the CEP135 gene maps to chromosome 4q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22521416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a salt extraction technique with purified human centrioles, <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> showed that CEP135 is a centrosomal scaffold 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>Through siRNA-mediated depletion and immunoelectron microscopy directed to individual centrosomal proteins, <a href="#6" class="mim-tip-reference" title="Kleylein-Sohn, J., Westendorf, J., Le Clech, M., Habedanck, R., Stierhof, Y.-D., Nigg, E. A. <strong>Plk4-induced centriole biogenesis in human cells.</strong> Dev. Cell 13: 190-202, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17681131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17681131</a>] [<a href="https://doi.org/10.1016/j.devcel.2007.07.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17681131">Kleylein-Sohn et al. (2007)</a> found that CEP135, PLK4 (<a href="/entry/605031">605031</a>), SAS6 (<a href="/entry/609321">609321</a>), CPAP (CENPJ; <a href="/entry/609279">609279</a>), TUBG1 (<a href="/entry/191135">191135</a>), and CP110 (<a href="/entry/609544">609544</a>) were required at different stages of procentriole formation and were associated with different centriolar structures. SAS6 associated only transiently with nascent procentrioles, whereas CEP135 and CPAP formed a core structure within the proximal lumen of both parental and nascent centrioles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17681131" 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><strong><em>Primary Microcephaly 8, Autosomal Recessive</em></strong></p><p>
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In 2 sibs, born of consanguineous Pakistani parents, with autosomal recessive primary microcephaly-8 (MCPH8; <a href="/entry/614673">614673</a>) and severe mental retardation, <a href="#4" class="mim-tip-reference" title="Hussain, M. S., Baig, S. M., Neumann, S., Nurnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmuller, J., Frommolt, P., Thiele, H., Noegel, A. A., Nurnberg, P. <strong>A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.</strong> Am. J. Hum. Genet. 90: 871-878, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22521416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22521416</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22521416[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.ajhg.2012.03.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22521416">Hussain et al. (2012)</a> identified a homozygous truncating mutation in the CEP135 gene (<a href="#0001">611423.0001</a>). The mutation was identified by genomewide linkage analysis followed by candidate gene sequencing, and was not found in 384 Pakistani controls. Whole-exome sequencing of 1 of the patients did not identify other potentially pathogenic mutations that could be responsible for the disorder. Analysis of the CEP135 gene in 7 other families from this region with primary microcephaly did not identify any additional mutations. Patient fibroblasts from one of the patients showed multiple fragmented centrosomes, disorganized microtubules, and reduced growth rate. The findings indicated that CEP135 is an essential component of the centrosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22521416" 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>In 2 sibs, born of consanguineous Pakistani parents, with MCPH8, <a href="#3" class="mim-tip-reference" title="Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, K. W., Baig, S. M., Larsen, L. A., Tommerup, N. <strong>A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.</strong> J. Hum. Genet. 61: 271-273, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26657937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26657937</a>] [<a href="https://doi.org/10.1038/jhg.2015.138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26657937">Farooq et al. (2016)</a> identified a homozygous splice site mutation in the CEP135 gene (<a href="#0002">611423.0002</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was predicted to result in nonsense-mediated mRNA decay, but even if translated the mutant protein would lack the C-terminal hSAS-6 interacting domain, most likely leading to multiple and fragmented centrosomes with disorganized microtubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26657937" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the CEP135 gene and spermatogenic failure, see <a href="#0003">611423.0003</a>.</p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611423[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<p>In 2 sibs, born of consanguineous Pakistani parents, with autosomal recessive primary microcephaly-8 (MCPH8; <a href="/entry/614673">614673</a>), <a href="#4" class="mim-tip-reference" title="Hussain, M. S., Baig, S. M., Neumann, S., Nurnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmuller, J., Frommolt, P., Thiele, H., Noegel, A. A., Nurnberg, P. <strong>A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.</strong> Am. J. Hum. Genet. 90: 871-878, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22521416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22521416</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22521416[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.ajhg.2012.03.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22521416">Hussain et al. (2012)</a> identified a homozygous 1-bp deletion (970delC) in exon 8 of the CEP135 gene, resulting in a frameshift and premature termination (Gln324SerfsTer2). The mutant transcript was demonstrated to undergo partial nonsense-mediated mRNA decay. The mutation was identified by genomewide linkage analysis followed by candidate gene sequencing, and was not found in 384 Pakistani controls. Whole-exome sequencing of 1 of the patients did not identify other potentially pathogenic mutations that could be responsible for the disorder. The parents were healthy with normal head circumference; the father carried the mutation in heterozygous state. Cultured patient fibroblasts showed poor growth and had increased numbers of fragmented centrosomes per cell compared to controls. The microtubule network was frequently disorganized (55% of the cells) and showed cell shape changes as well as misshapen and fragmented nuclei. Approximately 22% of mutant patient fibroblasts were without centrosomes, which was never observed in control cells. In vitro functional expression studies of the mutant protein in COS-7 cells caused abnormal disorganized microtubule networks and the mutant protein did not localize to the centrosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22521416" 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 2 sibs, born of consanguineous Pakistani parents, with autosomal recessive primary microcephaly-8 (MCPH8; <a href="/entry/614673">614673</a>), <a href="#3" class="mim-tip-reference" title="Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, K. W., Baig, S. M., Larsen, L. A., Tommerup, N. <strong>A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.</strong> J. Hum. Genet. 61: 271-273, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26657937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26657937</a>] [<a href="https://doi.org/10.1038/jhg.2015.138" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26657937">Farooq et al. (2016)</a> identified a homozygous G-to-A transition in intron 11 of the CEP135 gene (c.1473+1G-A), resulting in a splice site alteration. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was filtered against the dbSNP (build 138) database, and was not found in the Exome Variant Server or ExAC databases, or in 200 Pakistani controls. Transfection of the mutation into HEK293 cells showed that it resulted in the skipping of exon 11, a frameshift, and premature termination (Glu417GlyfsTer2) and possible nonsense-mediated mRNA decay, consistent with a loss of function. Even if translated into a truncated protein, the mutant protein would lack the C-terminal hSAS-6 interacting domain, most likely leading to multiple and fragmented centrosomes with disorganized microtubules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26657937" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1577878190 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1577878190;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1577878190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1577878190" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000855784 OR RCV003984850" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000855784, RCV003984850" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000855784...</a>
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<p>This variant is classified as a variant of unknown significance because its contribution to spermatogenic failure has not been confirmed.</p><p>In an infertile 30-year-old Han Chinese man with spermatogenic failure due to multiple morphologic abnormalities of the flagella (MMAF), <a href="#7" class="mim-tip-reference" title="Sha, Y.-W., Xu, X., Mei, L.-B., Li, P., Su, Z.-Y., He, X.-Q., Li, L. <strong>A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF).</strong> Gene 633: 48-53, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28866084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28866084</a>] [<a href="https://doi.org/10.1016/j.gene.2017.08.033" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28866084">Sha et al. (2017)</a> performed whole-exome sequencing and identified homozygosity for a c.1364A-T transversion (c.1364A-T, NM_025009) in exon 11 of the CEP135 gene, resulting in an asp455-to-val (D455V) substitution at a highly conserved residue. His unaffected consanguineous parents were heterozygous for the mutation. Semen analysis in the patient showed severely reduced motility and vitality, as well as features of MMAF, with only 0.5% normal spermatozoa. Approximately 85% of patient sperm exhibited short or absent flagella, and 46% had flagella of an irregular caliber; other abnormalities included coiled (12%) or angulated (3%) flagella. Immunofluorescence analysis showed localization of CEP135 to the sperm centriole in wildtype controls, whereas in patient sperm CEP135 was expressed at lower levels in the centriole compared to controls, with ectopic aggregates accumulating in the flagella near the centrosome. In vitro fertilization attempts, involving transfer of 3 embryos on 2 occasions, were unsuccessful. The authors noted that the proband did not exhibit primary microcephaly or respiratory disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28866084" 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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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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<strong>Stepwise evolution of the centriole-assembly pathway.</strong>
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J. Cell Sci. 123: 1414-1426, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20392737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20392737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20392737" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Farooq2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, K. W., Baig, S. M., Larsen, L. A., Tommerup, N.
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<strong>A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.</strong>
|
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J. Hum. Genet. 61: 271-273, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26657937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26657937</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26657937" 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/jhg.2015.138" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Hussain2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hussain, M. S., Baig, S. M., Neumann, S., Nurnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmuller, J., Frommolt, P., Thiele, H., Noegel, A. A., Nurnberg, P.
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<strong>A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.</strong>
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Am. J. Hum. Genet. 90: 871-878, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22521416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22521416</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22521416[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=22521416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.03.016" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Ishikawa1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
|
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DNA Res. 5: 169-176, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734811" 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/dnares/5.3.169" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Kleylein-Sohn2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kleylein-Sohn, J., Westendorf, J., Le Clech, M., Habedanck, R., Stierhof, Y.-D., Nigg, E. A.
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<strong>Plk4-induced centriole biogenesis in human cells.</strong>
|
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Dev. Cell 13: 190-202, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17681131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17681131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17681131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2007.07.002" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Sha2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sha, Y.-W., Xu, X., Mei, L.-B., Li, P., Su, Z.-Y., He, X.-Q., Li, L.
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<strong>A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF).</strong>
|
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Gene 633: 48-53, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28866084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28866084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28866084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.gene.2017.08.033" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Marla J. F. O'Neill - updated : 11/15/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Cassandra L. Kniffin - updated : 03/08/2017<br>Patricia A. Hartz - updated : 11/11/2014<br>Cassandra L. Kniffin - updated : 6/6/2012
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</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 : 9/11/2007
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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="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 11/15/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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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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alopez : 03/29/2017<br>ckniffin : 03/08/2017<br>mgross : 11/12/2014<br>mgross : 11/12/2014<br>mcolton : 11/11/2014<br>carol : 11/3/2014<br>carol : 9/13/2013<br>carol : 6/6/2012<br>terry : 6/6/2012<br>ckniffin : 6/6/2012<br>terry : 8/17/2010<br>carol : 9/11/2007
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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>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611423
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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, 135-KD; CEP135
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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KIAA0635
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<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: CEP135</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: 4q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:55,948,945-56,033,361 </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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<td rowspan="1">
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<span class="mim-font">
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4q12
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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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Microcephaly 8, primary, 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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614673
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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">
|
|
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>CEP135, SASS6 (609321), and CPAP (CENPJ; 609279) make up an ancestral module that forms the core centriole and basal body structure with 9-fold symmetry. CEP135 has a critical function in early centriole and basal body assembly (summary by Carvalho-Santos et al., 2010). </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 sequencing clones obtained from a size-fractionated brain cDNA library, Ishikawa et al. (1998) cloned CEP135, which they designated KIAA0635. The transcript contains repetitive elements at both the 5-prime and 3-prime UTRs, and the deduced protein contains 846 amino acids. RT-PCR detected variable CEP135 expression in all tissues examined, with highest expression in kidney, testis, and ovary, and lowest expression in brain and spleen. </p><p>Using mass spectrometry and proteomics to identify protein components of interphase centrosomes isolated from a human lymphoblastic cell line, Andersen et al. (2003) identified CEP135 as a centrosomal component. The predicted molecular mass was 135 kD. Imaging confirmed that fluorescence- and epitope-tagged CEP135 localized to centrosomes in a human osteoblastoma cell line. </p><p>Hussain et al. (2012) stated that the open reading frame of the CEP135 gene consists of 1,140 amino acids. </p><p>Carvalho-Santos et al. (2010) reported that CEP135 contains long coiled-coil domains. By database analysis, they identified N- and C-terminal domains within the coiled-coil regions that were conserved in vertebrates. Orthologs of CEP135 were not detected in several invertebrates. </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>Hussain et al. (2012) stated that the CEP135 gene contains 26 exons. </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">
|
|
<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">
|
|
<p>By radiation hybrid analysis, Ishikawa et al. (1998) mapped the CEP135 gene to chromosome 4. </p><p>Hussain et al. (2012) stated that the CEP135 gene maps to chromosome 4q12. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Using a salt extraction technique with purified human centrioles, Andersen et al. (2003) showed that CEP135 is a centrosomal scaffold protein. </p><p>Through siRNA-mediated depletion and immunoelectron microscopy directed to individual centrosomal proteins, Kleylein-Sohn et al. (2007) found that CEP135, PLK4 (605031), SAS6 (609321), CPAP (CENPJ; 609279), TUBG1 (191135), and CP110 (609544) were required at different stages of procentriole formation and were associated with different centriolar structures. SAS6 associated only transiently with nascent procentrioles, whereas CEP135 and CPAP formed a core structure within the proximal lumen of both parental and nascent centrioles. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</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">
|
|
<p><strong><em>Primary Microcephaly 8, Autosomal Recessive</em></strong></p><p>
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In 2 sibs, born of consanguineous Pakistani parents, with autosomal recessive primary microcephaly-8 (MCPH8; 614673) and severe mental retardation, Hussain et al. (2012) identified a homozygous truncating mutation in the CEP135 gene (611423.0001). The mutation was identified by genomewide linkage analysis followed by candidate gene sequencing, and was not found in 384 Pakistani controls. Whole-exome sequencing of 1 of the patients did not identify other potentially pathogenic mutations that could be responsible for the disorder. Analysis of the CEP135 gene in 7 other families from this region with primary microcephaly did not identify any additional mutations. Patient fibroblasts from one of the patients showed multiple fragmented centrosomes, disorganized microtubules, and reduced growth rate. The findings indicated that CEP135 is an essential component of the centrosome. </p><p>In 2 sibs, born of consanguineous Pakistani parents, with MCPH8, Farooq et al. (2016) identified a homozygous splice site mutation in the CEP135 gene (611423.0002). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The mutation was predicted to result in nonsense-mediated mRNA decay, but even if translated the mutant protein would lack the C-terminal hSAS-6 interacting domain, most likely leading to multiple and fragmented centrosomes with disorganized microtubules. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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For discussion of a possible association between variation in the CEP135 gene and spermatogenic failure, see 611423.0003.</p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>3 Selected Examples):</strong>
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<strong>.0001 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE</strong>
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CEP135, 1-BP DEL, 970C
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SNP: rs202247811,
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ClinVar: RCV000024354
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<p>In 2 sibs, born of consanguineous Pakistani parents, with autosomal recessive primary microcephaly-8 (MCPH8; 614673), Hussain et al. (2012) identified a homozygous 1-bp deletion (970delC) in exon 8 of the CEP135 gene, resulting in a frameshift and premature termination (Gln324SerfsTer2). The mutant transcript was demonstrated to undergo partial nonsense-mediated mRNA decay. The mutation was identified by genomewide linkage analysis followed by candidate gene sequencing, and was not found in 384 Pakistani controls. Whole-exome sequencing of 1 of the patients did not identify other potentially pathogenic mutations that could be responsible for the disorder. The parents were healthy with normal head circumference; the father carried the mutation in heterozygous state. Cultured patient fibroblasts showed poor growth and had increased numbers of fragmented centrosomes per cell compared to controls. The microtubule network was frequently disorganized (55% of the cells) and showed cell shape changes as well as misshapen and fragmented nuclei. Approximately 22% of mutant patient fibroblasts were without centrosomes, which was never observed in control cells. In vitro functional expression studies of the mutant protein in COS-7 cells caused abnormal disorganized microtubule networks and the mutant protein did not localize to the centrosome. </p>
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<span class="mim-font">
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<strong>.0002 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE</strong>
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CEP135, IVS11DS, G-A, +1
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SNP: rs1085307120,
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ClinVar: RCV000477712
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<p>In 2 sibs, born of consanguineous Pakistani parents, with autosomal recessive primary microcephaly-8 (MCPH8; 614673), Farooq et al. (2016) identified a homozygous G-to-A transition in intron 11 of the CEP135 gene (c.1473+1G-A), resulting in a splice site alteration. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. The variant was filtered against the dbSNP (build 138) database, and was not found in the Exome Variant Server or ExAC databases, or in 200 Pakistani controls. Transfection of the mutation into HEK293 cells showed that it resulted in the skipping of exon 11, a frameshift, and premature termination (Glu417GlyfsTer2) and possible nonsense-mediated mRNA decay, consistent with a loss of function. Even if translated into a truncated protein, the mutant protein would lack the C-terminal hSAS-6 interacting domain, most likely leading to multiple and fragmented centrosomes with disorganized microtubules. </p>
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<span class="mim-font">
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<strong>.0003 VARIANT OF UNKNOWN SIGNIFICANCE</strong>
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CEP135, ASP455VAL
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SNP: rs1577878190,
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ClinVar: RCV000855784, RCV003984850
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<p>This variant is classified as a variant of unknown significance because its contribution to spermatogenic failure has not been confirmed.</p><p>In an infertile 30-year-old Han Chinese man with spermatogenic failure due to multiple morphologic abnormalities of the flagella (MMAF), Sha et al. (2017) performed whole-exome sequencing and identified homozygosity for a c.1364A-T transversion (c.1364A-T, NM_025009) in exon 11 of the CEP135 gene, resulting in an asp455-to-val (D455V) substitution at a highly conserved residue. His unaffected consanguineous parents were heterozygous for the mutation. Semen analysis in the patient showed severely reduced motility and vitality, as well as features of MMAF, with only 0.5% normal spermatozoa. Approximately 85% of patient sperm exhibited short or absent flagella, and 46% had flagella of an irregular caliber; other abnormalities included coiled (12%) or angulated (3%) flagella. Immunofluorescence analysis showed localization of CEP135 to the sperm centriole in wildtype controls, whereas in patient sperm CEP135 was expressed at lower levels in the centriole compared to controls, with ectopic aggregates accumulating in the flagella near the centrosome. In vitro fertilization attempts, involving transfer of 3 embryos on 2 occasions, were unsuccessful. The authors noted that the proband did not exhibit primary microcephaly or respiratory disease. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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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: 14654843]
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[Full Text: https://doi.org/10.1038/nature02166]
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<li>
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Carvalho-Santos, Z., Machado, P., Branco, P., Tavares-Cadete, F., Rodrigues-Martins, A., Pereira-Leal, J. B., Bettencourt-Dias, M.
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<strong>Stepwise evolution of the centriole-assembly pathway.</strong>
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J. Cell Sci. 123: 1414-1426, 2010.
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[PubMed: 20392737]
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[Full Text: https://doi.org/10.1242/jcs.064931]
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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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Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, K. W., Baig, S. M., Larsen, L. A., Tommerup, N.
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<strong>A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.</strong>
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J. Hum. Genet. 61: 271-273, 2016.
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[PubMed: 26657937]
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[Full Text: https://doi.org/10.1038/jhg.2015.138]
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</p>
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</li>
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<p class="mim-text-font">
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Hussain, M. S., Baig, S. M., Neumann, S., Nurnberg, G., Farooq, M., Ahmad, I., Alef, T., Hennies, H. C., Technau, M., Altmuller, J., Frommolt, P., Thiele, H., Noegel, A. A., Nurnberg, P.
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<strong>A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.</strong>
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Am. J. Hum. Genet. 90: 871-878, 2012.
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[PubMed: 22521416]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.03.016]
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<p class="mim-text-font">
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Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 169-176, 1998.
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[PubMed: 9734811]
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[Full Text: https://doi.org/10.1093/dnares/5.3.169]
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<li>
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<p class="mim-text-font">
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Kleylein-Sohn, J., Westendorf, J., Le Clech, M., Habedanck, R., Stierhof, Y.-D., Nigg, E. A.
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<strong>Plk4-induced centriole biogenesis in human cells.</strong>
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Dev. Cell 13: 190-202, 2007.
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[PubMed: 17681131]
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[Full Text: https://doi.org/10.1016/j.devcel.2007.07.002]
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<p class="mim-text-font">
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Sha, Y.-W., Xu, X., Mei, L.-B., Li, P., Su, Z.-Y., He, X.-Q., Li, L.
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<strong>A homozygous CEP135 mutation is associated with multiple morphological abnormalities of the sperm flagella (MMAF).</strong>
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Gene 633: 48-53, 2017.
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[PubMed: 28866084]
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[Full Text: https://doi.org/10.1016/j.gene.2017.08.033]
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Marla J. F. O'Neill - updated : 11/15/2019<br>Cassandra L. Kniffin - updated : 03/08/2017<br>Patricia A. Hartz - updated : 11/11/2014<br>Cassandra L. Kniffin - updated : 6/6/2012
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<span class="mim-text-font">
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Patricia A. Hartz : 9/11/2007
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carol : 11/15/2019<br>alopez : 03/29/2017<br>ckniffin : 03/08/2017<br>mgross : 11/12/2014<br>mgross : 11/12/2014<br>mcolton : 11/11/2014<br>carol : 11/3/2014<br>carol : 9/13/2013<br>carol : 6/6/2012<br>terry : 6/6/2012<br>ckniffin : 6/6/2012<br>terry : 8/17/2010<br>carol : 9/11/2007
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