3340 lines
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Entry
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- *604857 - SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54
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- OMIM
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</form>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*604857</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFamily">Gene Family</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="#biochemicalFeatures">Biochemical Features</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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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/604857">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 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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</li>
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</ul>
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</nav>
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</div>
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</div>
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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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</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=ENSG00000100883;t=ENST00000216774" 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=6729" 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=604857" 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=ENSG00000100883;t=ENST00000216774" 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_001146282,NM_001411017,NM_003136,XM_011537106,XM_047431727" 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_003136" 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=604857" 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=05330&isoform_id=05330_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/SRP54" 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/784999,1256820,4507215,12653733,13097267,46577650,189053540,194373485,194374727,226371618,767981381,2217298393,2288045697,2462541443,2462541445" 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/P61011" 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=6729" 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=ENSG00000100883;t=ENST00000216774" 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=SRP54" 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=SRP54" 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+6729" 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/SRP54" 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:6729" 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/6729" 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=chr14&hgg_gene=ENST00000216774.11&hgg_start=34982992&hgg_end=35029567&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 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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<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=604857[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<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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<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=604857[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/SRP54/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/ENSG00000100883" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SRP54" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SRP54" 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=SRP54" 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=SRP54&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/PA36125" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:11301" 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/FBgn0010747.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/search?q=MGI:1346087 MGI:3714357 MGI:3714359" 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/SRP54#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/batch/summary?idType=MGI&ids=MGI:1346087 MGI:3714357 MGI:3714359" 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/6729/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=6729" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00009012;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-818" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6729" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SRP54&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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<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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<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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604857
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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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SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SRP54" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SRP54</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/14/166?start=-3&limit=10&highlight=166">14q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:34982992-35029567&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'})">14:34,982,992-35,029,567</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/14/166?start=-3&limit=10&highlight=166">
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14q13.2
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</a>
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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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Neutropenia, severe congenital, 8, autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/618752"> 618752 </a>
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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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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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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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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/604857" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604857" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</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="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>SRP54, a component of the signal recognition particle (SRP), recognizes the signal peptide of secretory proteins and interacts with the signal recognition particle receptor (SRPR; <a href="/entry/182180">182180</a>) to target the ribosome and the associated nascent chain to the endoplasmic reticulum (summary by <a href="#9" class="mim-tip-reference" title="Pool, M. R., Stumm, J., Fulga, T. A., Sinning, I., Dobberstein, B. <strong>Distinct modes of signal recognition particle interaction with the ribosome.</strong> Science 297: 1345-1348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12193787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12193787</a>] [<a href="https://doi.org/10.1126/science.1072366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12193787">Pool et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12193787" 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="#8" class="mim-tip-reference" title="Patel, S., Austen, B. <strong>Sequence of the highly conserved gene encoding the human 54kDa subunit of signal recognition particle.</strong> DNA Seq. 6: 167-170, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8722571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8722571</a>] [<a href="https://doi.org/10.3109/10425179609010204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8722571">Patel and Austen (1996)</a> isolated full-length human SRP54 from a placenta cDNA library. The 504-amino acid human SRP54 protein is identical to its canine ortholog. SRP54 orthologs are present in diverse organisms, including yeast, E. coli, and M. mycoides, with highest amino acid homology in the GTP-binding domain and significant similarity in the methionine-rich domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8722571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening a human hepatoma cDNA library with mouse Srp54 as probe, <a href="#3" class="mim-tip-reference" title="Gowda, K., Chittenden, K., Zwieb, C. <strong>Binding site of the M-domain of human protein SRP54 determined by systematic site-directed mutagenesis of signal recognition particle RNA.</strong> Nucleic Acids Res. 25: 388-394, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9016569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9016569</a>] [<a href="https://doi.org/10.1093/nar/25.2.388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9016569">Gowda et al. (1997)</a> isolated a full-length SRP54 cDNA. Human SRP54 protein differs at only 2 amino acids from the mouse protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9016569" 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 functional analysis, <a href="#3" class="mim-tip-reference" title="Gowda, K., Chittenden, K., Zwieb, C. <strong>Binding site of the M-domain of human protein SRP54 determined by systematic site-directed mutagenesis of signal recognition particle RNA.</strong> Nucleic Acids Res. 25: 388-394, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9016569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9016569</a>] [<a href="https://doi.org/10.1093/nar/25.2.388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9016569">Gowda et al. (1997)</a> showed that SRP54 binds to SRP RNA via the M-domain, but only in the presence of RNA-bound SRP19, and that it associates with the signal peptide of nascent polypeptide chains. RNA interaction requires the presence of a loop in the C-terminal M-domain. Signal peptide recognition most likely involves methionine-rich loops. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9016569" 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 protein crosslinking, <a href="#9" class="mim-tip-reference" title="Pool, M. R., Stumm, J., Fulga, T. A., Sinning, I., Dobberstein, B. <strong>Distinct modes of signal recognition particle interaction with the ribosome.</strong> Science 297: 1345-1348, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12193787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12193787</a>] [<a href="https://doi.org/10.1126/science.1072366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12193787">Pool et al. (2002)</a> detected distinct modes in the binding of SRP to the ribosome. During signal peptide recognition, SRP54 is positioned at the exit site close to ribosomal proteins L23a (<a href="/entry/602326">602326</a>) and L35. When SRP54 contacts the signal recognition particle receptor (<a href="/entry/182180">182180</a>), SRP54 is rearranged such that it is no longer close to L23a. This repositioning may allow the translocon to dock with the ribosome, leading to insertion of the signal peptide into the translocation channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12193787" 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>The signal recognition particle (SRP) is a ribonucleoprotein complex that mediates the targeting of proteins to the endoplasmic reticulum (ER). The complex consists of a 7S (or 7SL) RNA and 6 different proteins, SRP9 (<a href="/entry/600707">600707</a>), SRP14 (<a href="/entry/600708">600708</a>), SRP19 (<a href="/entry/182175">182175</a>), SRP54, SRP68 (<a href="/entry/604858">604858</a>), and SRP72 (<a href="/entry/602122">602122</a>). The proteins are bound to the 7S RNA as monomers (SRP19 and SRP54) or heterodimers (SRP9/SRP14 and SRP68/SRP72). SRP9 and SRP14 constitute the Alu domain of 7S, whereas the other 4 proteins belong to the S domain. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein (summary by <a href="#7" class="mim-tip-reference" title="Lingelbach, K., Zwieb, C., Webb, J., Marshallsay, C., Hoben, P., Walter, P., Dobberstein, B. <strong>Isolation and characterization of a cDNA clone encoding the 19 kDa protein of signal recognition particle (SRP): expression and binding to 7SL RNA.</strong> Nucleic Acids Res. 16: 9431-9442, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2460823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2460823</a>] [<a href="https://doi.org/10.1093/nar/16.20.9431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2460823">Lingelbach et al., 1988</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2460823" 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>For information on a signal recognition particle database, see <a href="#6" class="mim-tip-reference" title="Larsen, N., Samuelsson, T., Swieb, C. <strong>The Signal Recognition Particle Database (SRPDB).</strong> Nucleic Acids Res. 26: 177-178, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399828</a>] [<a href="https://doi.org/10.1093/nar/26.1.177" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399828">Larsen et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399828" 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="mim-changed mim-change"><p><a href="#10" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 1/16/2025."None>Stumpf (2025)</a> mapped the SRP54 gene to chromosome 14q13.2 based on an alignment of the SRP54 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC000652" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC000652</a>) with the genomic sequence (GRCh38).</p></div>
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<p>Using site-directed mutagenesis, <a href="#5" class="mim-tip-reference" title="Huang, Q., Abdulrahman, S., Yin, J., Zwieb, C. <strong>Systematic site-directed mutagenesis of human protein SRP54: interactions with signal recognition particle RNA and modes of signal peptide recognition.</strong> Biochemistry 41: 11362-11371, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12234178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12234178</a>] [<a href="https://doi.org/10.1021/bi025765t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12234178">Huang et al. (2002)</a> identified residues in human SRP54 required for binding to SRP RNA. SRP54 was present as a dimer in both solution crystal states, but only monomeric SRP54 bound SRP RNA. Molecular modeling revealed that SRP54 underwent a conformational change in the signal peptide-binding groove in response to SRP RNA. This conformational change allowed leu329, which is conserved as a nonpolar bulky residue across species, to position itself in closer proximity to the RNA-binding domain and become part of the hydrophobic core for SRP RNA binding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12234178" 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="Halic, M., Becker, T., Pool, M. R., Spahn, C. M. T., Grassucci, R. A., Frank, J., Beckmann, R. <strong>Structure of the signal recognition particle interacting with the elongation-arrested ribosome.</strong> Nature 427: 808-814, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985753</a>] [<a href="https://doi.org/10.1038/nature02342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985753">Halic et al. (2004)</a> presented the structure of a targeting complex consisting of mammalian SRP bound to an active 80S ribosome carrying a signal sequence. This structure, determined to 12-angstrom resolution by cryoelectron microscopy, enabled <a href="#4" class="mim-tip-reference" title="Halic, M., Becker, T., Pool, M. R., Spahn, C. M. T., Grassucci, R. A., Frank, J., Beckmann, R. <strong>Structure of the signal recognition particle interacting with the elongation-arrested ribosome.</strong> Nature 427: 808-814, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985753</a>] [<a href="https://doi.org/10.1038/nature02342" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985753">Halic et al. (2004)</a> to generate a molecular model of SRP in its functional conformation. The model showed how the S domain of SRP contacts the large ribosomal subunit at the nascent chain exit site to bind the signal sequence, and that the Alu domain reaches into the elongation factor-binding site of the ribosome, explaining its elongation arrest activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 3 unrelated patients with autosomal dominant severe congenital neutropenia-8 (SCN8; <a href="/entry/618752">618752</a>) in whom mutations in the SBDS gene (<a href="/entry/607444">607444</a>) and other bone marrow failure syndrome genes were excluded, <a href="#2" class="mim-tip-reference" title="Carapito, R., Konantz, M., Paillard, C., Miao, Z., Pichot, A., Leduc, M. S., Yang, Y., Bergstrom, K. L., Mahoney, D. H., Shardy, D. L., Alsaleh, G., Naegely, L., and 38 others. <strong>Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.</strong> J. Clin. Invest. 127: 4090-4103, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28972538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28972538</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28972538[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/10.1172/JCI92876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28972538">Carapito et al. (2017)</a> identified de novo heterozygous mutations in the SRP54 gene (<a href="#0001">604857.0001</a>-<a href="#0003">604857.0003</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, affected highly conserved residues in the GTPase domain and were predicted to affect GTP binding. The patients were identified from a cohort of over 84 patients with a similar phenotype who underwent genetic analysis or were ascertained through collaborative efforts. Patient bone marrow cells showed decreased levels of SRP54 mRNA, and the GTPase activity of the mutant proteins was variably reduced compared to controls. Morpholino knockdown of the srp54 gene in zebrafish resulted in similar phenotypic defects that were rescued by wildtype, but not mutant, SRP54. <a href="#2" class="mim-tip-reference" title="Carapito, R., Konantz, M., Paillard, C., Miao, Z., Pichot, A., Leduc, M. S., Yang, Y., Bergstrom, K. L., Mahoney, D. H., Shardy, D. L., Alsaleh, G., Naegely, L., and 38 others. <strong>Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.</strong> J. Clin. Invest. 127: 4090-4103, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28972538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28972538</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28972538[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/10.1172/JCI92876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28972538">Carapito et al. (2017)</a> postulated either haploinsufficiency or a dominant-negative molecular mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28972538" 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 23 French patients with SCN8, including 16 patients with sporadic disease and 7 with familial disease, <a href="#1" class="mim-tip-reference" title="Bellanne-Chantelot, C., Schmaltz-Panneau, B., Marty, C., Fenneteau, O., Callebaut, I., Clauin, S., Docet, A., Damaj, G.-L., Leblanc, T., Pellier, I., Stoven, C., Souquere, S., and 26 others. <strong>Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.</strong> Blood 132: 1318-1331, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29914977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29914977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29914977[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/10.1182/blood-2017-12-820308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29914977">Bellanne-Chantelot et al. (2018)</a> identified heterozygous mutations in the SRP54 gene (see, e.g, <a href="#0001">604857.0001</a>; <a href="#0003">604857.0003</a>; <a href="#0004">604857.0004</a>-<a href="#0006">604857.0006</a>). The mutations, which occurred de novo in the sporadic cases, were all missense variants, except for a recurrent in-frame deletion of conserved residue thr117 (<a href="#0003">604857.0003</a>), and all occurred in the GTPase domain. The mutations were initially found by whole-exome sequencing in 3 of 8 unrelated patients with sporadic disease (P11, P13, and P19) and in an affected father and daughter (family 14) out of 6 families with the disease. The mutations were confirmed by Sanger sequencing. The subsequent patients were identified from a second cohort of 66 French probands who underwent direct sequencing of the SRP54 gene. In vitro studies showed that patient granulocytes had decreased cellular proliferation, and increased apoptosis compared to controls, as well as evidence of ER stress and induction of autophagy. Knockdown of SRP54 using shRNA in a cell line resulted in similar abnormalities. The authors noted that both neutrophils and pancreatic exocrine cells are highly secretory, possibly rendering them more susceptible to defects in the SRP54 gene, which is involved in the maturation of secretory and membrane proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29914977" 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="#2" class="mim-tip-reference" title="Carapito, R., Konantz, M., Paillard, C., Miao, Z., Pichot, A., Leduc, M. S., Yang, Y., Bergstrom, K. L., Mahoney, D. H., Shardy, D. L., Alsaleh, G., Naegely, L., and 38 others. <strong>Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.</strong> J. Clin. Invest. 127: 4090-4103, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28972538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28972538</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28972538[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/10.1172/JCI92876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28972538">Carapito et al. (2017)</a> found that morpholino knockdown of the srp54 orthologs in zebrafish resulted in decreased number of basal neutrophils and impaired neutrophil migration and chemotaxis in response to injury compared to controls, as well as disturbed pancreatic development and exocrine pancreatic dysfunction. These defects could be rescued with wildtype SRP54. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28972538" 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 a 6-year-old boy (family A) with autosomal dominant severe congenital neutropenia-8 (SCN8; <a href="/entry/618752">618752</a>), <a href="#2" class="mim-tip-reference" title="Carapito, R., Konantz, M., Paillard, C., Miao, Z., Pichot, A., Leduc, M. S., Yang, Y., Bergstrom, K. L., Mahoney, D. H., Shardy, D. L., Alsaleh, G., Naegely, L., and 38 others. <strong>Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.</strong> J. Clin. Invest. 127: 4090-4103, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28972538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28972538</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28972538[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/10.1172/JCI92876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28972538">Carapito et al. (2017)</a> identified a de novo heterozygous c.677G-A transition (c.677G-A, NM_003136.3) in the SRP54 gene, resulting in a gly226-to-glu (G226E) substitution at a highly conserved residue in the GTPase domain. The authors stated that the mutation occurred in exon 8. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the 1000 Genomes Project or ExAC databases, or in various other databases containing more than 100,000 exomes. Patient bone marrow cells showed decreased levels of SRP54 mRNA, and the GTPase activity of the mutant protein was reduced by a factor of 3.5 compared to controls. The patient also had neurodevelopmental delay and autism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28972538" 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 a 1.5-year-old French boy (P22) with SCN8, <a href="#1" class="mim-tip-reference" title="Bellanne-Chantelot, C., Schmaltz-Panneau, B., Marty, C., Fenneteau, O., Callebaut, I., Clauin, S., Docet, A., Damaj, G.-L., Leblanc, T., Pellier, I., Stoven, C., Souquere, S., and 26 others. <strong>Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.</strong> Blood 132: 1318-1331, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29914977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29914977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29914977[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/10.1182/blood-2017-12-820308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29914977">Bellanne-Chantelot et al. (2018)</a> identified a de novo heterozygous c.677G-A transition (c.677G-A, NM_003136.3) in the SRP54 gene, resulting in a G226E substitution. The authors stated that the mutation occurred in exon 9. The mutation was found by direct sequencing of the SRP54 gene. The patient also had neurodevelopmental delay and seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29914977" 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 a 16-month-old girl (family B) with autosomal dominant severe congenital neutropenia-8 (SCN8; <a href="/entry/618752">618752</a>), <a href="#2" class="mim-tip-reference" title="Carapito, R., Konantz, M., Paillard, C., Miao, Z., Pichot, A., Leduc, M. S., Yang, Y., Bergstrom, K. L., Mahoney, D. H., Shardy, D. L., Alsaleh, G., Naegely, L., and 38 others. <strong>Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.</strong> J. Clin. Invest. 127: 4090-4103, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28972538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28972538</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28972538[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/10.1172/JCI92876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28972538">Carapito et al. (2017)</a> identified a de novo heterozygous c.343A-G transition (c.343A-G, NM_003136.3) in the SRP54 gene, resulting in a thr115-to-ala (T115A) substitution at a highly conserved residue in the G1 region of the GTPase domain. The authors stated that the mutation occurred in exon 4. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the 1000 Genomes Project or ExAC databases, or in various other databases containing more than 100,000 exomes. Patient bone marrow cells showed decreased levels of SRP54 mRNA, and the GTPase activity of the mutant protein was almost completely abolished compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28972538" 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 an 18-year-old man (family C) with autosomal dominant severe congenital neutropenia-8 (SCN8; <a href="/entry/618752">618752</a>), <a href="#2" class="mim-tip-reference" title="Carapito, R., Konantz, M., Paillard, C., Miao, Z., Pichot, A., Leduc, M. S., Yang, Y., Bergstrom, K. L., Mahoney, D. H., Shardy, D. L., Alsaleh, G., Naegely, L., and 38 others. <strong>Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.</strong> J. Clin. Invest. 127: 4090-4103, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28972538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28972538</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28972538[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/10.1172/JCI92876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28972538">Carapito et al. (2017)</a> identified a de novo heterozygous 3-bp in-frame deletion (c.349_351del, NM_003136.3) in the SRP54 gene, resulting in the deletion of highly conserved residue thr117 (Thr117del) in the GTPase domain. The authors stated that the mutation occurred in exon 4. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the 1000 Genomes Project or ExAC databases, or in various other databases containing more than 100,000 exomes. In vitro studies showed that the GTPase activity of the mutant protein was moderately decreased by about 1.6-fold compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28972538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bellanne-Chantelot, C., Schmaltz-Panneau, B., Marty, C., Fenneteau, O., Callebaut, I., Clauin, S., Docet, A., Damaj, G.-L., Leblanc, T., Pellier, I., Stoven, C., Souquere, S., and 26 others. <strong>Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.</strong> Blood 132: 1318-1331, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29914977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29914977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29914977[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/10.1182/blood-2017-12-820308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29914977">Bellanne-Chantelot et al. (2018)</a> identified a heterozygous Thr117del (c.349_351del, NM_003136.3) mutation in the SRP54 gene in 14 French patients with SCN8. The mutation occurred de novo in 7 patients and was inherited from an affected (2) or unaffected mosaic parent (1) in 3 cases; inheritance could not be determined in the 2 remaining cases. These authors stated that the mutation occurred in exon 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29914977" 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 an 8-year-old French boy (P1) with autosomal dominant severe congenital neutropenia-8 (SCN8; <a href="/entry/618752">618752</a>), <a href="#1" class="mim-tip-reference" title="Bellanne-Chantelot, C., Schmaltz-Panneau, B., Marty, C., Fenneteau, O., Callebaut, I., Clauin, S., Docet, A., Damaj, G.-L., Leblanc, T., Pellier, I., Stoven, C., Souquere, S., and 26 others. <strong>Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.</strong> Blood 132: 1318-1331, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29914977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29914977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29914977[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/10.1182/blood-2017-12-820308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29914977">Bellanne-Chantelot et al. (2018)</a> identified a de novo heterozygous c.337G-C transversion (c.337G-C, NM_003136.3) in exon 5 of the SRP54 gene, resulting in a gly113-to-arg (G113R) substitution at a highly conserved residue in the GTPase domain. The mutation was found by direct sequencing of the SRP54 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29914977" 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 a 43-year-old French man (P21) with autosomal dominant severe congenital neutropenia-8 (SCN8; <a href="/entry/618752">618752</a>), <a href="#1" class="mim-tip-reference" title="Bellanne-Chantelot, C., Schmaltz-Panneau, B., Marty, C., Fenneteau, O., Callebaut, I., Clauin, S., Docet, A., Damaj, G.-L., Leblanc, T., Pellier, I., Stoven, C., Souquere, S., and 26 others. <strong>Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.</strong> Blood 132: 1318-1331, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29914977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29914977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29914977[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/10.1182/blood-2017-12-820308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29914977">Bellanne-Chantelot et al. (2018)</a> identified a de novo heterozygous c.668C-A transversion (c.668C-A, NM_003136.3) in exon 9 of the SRP54 gene, resulting in an ala223-to-asp (A223D) substitution at a highly conserved residue in the GTPase domain. The mutation was found by direct sequencing of the SRP54 gene. The patient also had neurodevelopmental delay and pancreatic lipomatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29914977" 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">rs1595004676 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1595004676;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=rs1595004676" 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=rs1595004676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 25-year-old French man (P23) with autosomal dominant severe congenital neutropenia-8 (SCN8; <a href="/entry/618752">618752</a>), <a href="#1" class="mim-tip-reference" title="Bellanne-Chantelot, C., Schmaltz-Panneau, B., Marty, C., Fenneteau, O., Callebaut, I., Clauin, S., Docet, A., Damaj, G.-L., Leblanc, T., Pellier, I., Stoven, C., Souquere, S., and 26 others. <strong>Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.</strong> Blood 132: 1318-1331, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29914977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29914977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29914977[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/10.1182/blood-2017-12-820308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29914977">Bellanne-Chantelot et al. (2018)</a> identified a de novo heterozygous c.821G-A transition (c.821G-A, NM_003136.3) in exon 9 of the SRP54 gene, resulting in a gly274-to-asp (G274D) substitution at a highly conserved residue in the GTPase domain. The mutation was found by direct sequencing of the SRP54 gene. The patient also had neurodevelopmental delay and pancreatic lipomatosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29914977" 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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Blood 132: 1318-1331, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29914977/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29914977</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29914977[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=29914977" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.</strong>
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J. Clin. Invest. 127: 4090-4103, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28972538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28972538</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28972538[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=28972538" 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/10.1172/JCI92876" target="_blank">Full Text</a>]
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<strong>Binding site of the M-domain of human protein SRP54 determined by systematic site-directed mutagenesis of signal recognition particle RNA.</strong>
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Nucleic Acids Res. 25: 388-394, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9016569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9016569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9016569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Halic2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Halic, M., Becker, T., Pool, M. R., Spahn, C. M. T., Grassucci, R. A., Frank, J., Beckmann, R.
|
|
<strong>Structure of the signal recognition particle interacting with the elongation-arrested ribosome.</strong>
|
|
Nature 427: 808-814, 2004.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14985753" 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/nature02342" 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="Huang2002" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Huang, Q., Abdulrahman, S., Yin, J., Zwieb, C.
|
|
<strong>Systematic site-directed mutagenesis of human protein SRP54: interactions with signal recognition particle RNA and modes of signal peptide recognition.</strong>
|
|
Biochemistry 41: 11362-11371, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12234178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12234178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12234178" 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/10.1021/bi025765t" 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="Larsen1998" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Larsen, N., Samuelsson, T., Swieb, C.
|
|
<strong>The Signal Recognition Particle Database (SRPDB).</strong>
|
|
Nucleic Acids Res. 26: 177-178, 1998.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/26.1.177" 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="Lingelbach1988" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Lingelbach, K., Zwieb, C., Webb, J., Marshallsay, C., Hoben, P., Walter, P., Dobberstein, B.
|
|
<strong>Isolation and characterization of a cDNA clone encoding the 19 kDa protein of signal recognition particle (SRP): expression and binding to 7SL RNA.</strong>
|
|
Nucleic Acids Res. 16: 9431-9442, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2460823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2460823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2460823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/16.20.9431" 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="8" class="mim-anchor"></a>
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<a id="Patel1996" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
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Patel, S., Austen, B.
|
|
<strong>Sequence of the highly conserved gene encoding the human 54kDa subunit of signal recognition particle.</strong>
|
|
DNA Seq. 6: 167-170, 1996.
|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8722571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8722571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8722571" 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/10.3109/10425179609010204" 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="9" class="mim-anchor"></a>
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<a id="Pool2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pool, M. R., Stumm, J., Fulga, T. A., Sinning, I., Dobberstein, B.
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<strong>Distinct modes of signal recognition particle interaction with the ribosome.</strong>
|
|
Science 297: 1345-1348, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12193787/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12193787</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12193787" 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/10.1126/science.1072366" 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="10" class="mim-anchor"></a>
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<a id="Stumpf2025" class="mim-anchor"></a>
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<div class="mim-changed mim-change">
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<p class="mim-text-font">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1/16/2025.
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<div>
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<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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</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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Bao Lige - updated : 05/22/2020
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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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Bao Lige - updated : 02/28/2020<br>Cassandra L. Kniffin - updated : 01/29/2020<br>Ada Hamosh - updated : 3/8/2004<br>Ada Hamosh - updated : 10/18/2002
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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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Paul J. Converse : 4/20/2000
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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="editHistory" 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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<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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alopez : 01/16/2025
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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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carol : 03/14/2022<br>carol : 04/06/2021<br>carol : 03/31/2021<br>mgross : 06/05/2020<br>carol : 05/23/2020<br>mgross : 05/22/2020<br>mgross : 02/28/2020<br>alopez : 01/31/2020<br>ckniffin : 01/29/2020<br>alopez : 05/07/2014<br>tkritzer : 3/9/2004<br>terry : 3/8/2004<br>alopez : 10/23/2002<br>terry : 10/18/2002<br>carol : 4/21/2000<br>carol : 4/20/2000<br>carol : 4/20/2000
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 604857
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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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SIGNAL RECOGNITION PARTICLE, 54-KD; SRP54
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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-text-font">
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<strong><em>HGNC Approved Gene Symbol: SRP54</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: 14q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:34,982,992-35,029,567 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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14q13.2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Neutropenia, severe congenital, 8, autosomal dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
618752
|
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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 dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>SRP54, a component of the signal recognition particle (SRP), recognizes the signal peptide of secretory proteins and interacts with the signal recognition particle receptor (SRPR; 182180) to target the ribosome and the associated nascent chain to the endoplasmic reticulum (summary by Pool et al., 2002). </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>Patel and Austen (1996) isolated full-length human SRP54 from a placenta cDNA library. The 504-amino acid human SRP54 protein is identical to its canine ortholog. SRP54 orthologs are present in diverse organisms, including yeast, E. coli, and M. mycoides, with highest amino acid homology in the GTP-binding domain and significant similarity in the methionine-rich domain. </p><p>By screening a human hepatoma cDNA library with mouse Srp54 as probe, Gowda et al. (1997) isolated a full-length SRP54 cDNA. Human SRP54 protein differs at only 2 amino acids from the mouse protein. </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>By functional analysis, Gowda et al. (1997) showed that SRP54 binds to SRP RNA via the M-domain, but only in the presence of RNA-bound SRP19, and that it associates with the signal peptide of nascent polypeptide chains. RNA interaction requires the presence of a loop in the C-terminal M-domain. Signal peptide recognition most likely involves methionine-rich loops. </p><p>Using protein crosslinking, Pool et al. (2002) detected distinct modes in the binding of SRP to the ribosome. During signal peptide recognition, SRP54 is positioned at the exit site close to ribosomal proteins L23a (602326) and L35. When SRP54 contacts the signal recognition particle receptor (182180), SRP54 is rearranged such that it is no longer close to L23a. This repositioning may allow the translocon to dock with the ribosome, leading to insertion of the signal peptide into the translocation channel. </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>
|
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<span class="mim-font">
|
|
<strong>Gene Family</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>The signal recognition particle (SRP) is a ribonucleoprotein complex that mediates the targeting of proteins to the endoplasmic reticulum (ER). The complex consists of a 7S (or 7SL) RNA and 6 different proteins, SRP9 (600707), SRP14 (600708), SRP19 (182175), SRP54, SRP68 (604858), and SRP72 (602122). The proteins are bound to the 7S RNA as monomers (SRP19 and SRP54) or heterodimers (SRP9/SRP14 and SRP68/SRP72). SRP9 and SRP14 constitute the Alu domain of 7S, whereas the other 4 proteins belong to the S domain. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein (summary by Lingelbach et al., 1988). </p><p>For information on a signal recognition particle database, see Larsen et al. (1998). </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>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Stumpf (2025) mapped the SRP54 gene to chromosome 14q13.2 based on an alignment of the SRP54 sequence (GenBank BC000652) with the genomic sequence (GRCh38).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Using site-directed mutagenesis, Huang et al. (2002) identified residues in human SRP54 required for binding to SRP RNA. SRP54 was present as a dimer in both solution crystal states, but only monomeric SRP54 bound SRP RNA. Molecular modeling revealed that SRP54 underwent a conformational change in the signal peptide-binding groove in response to SRP RNA. This conformational change allowed leu329, which is conserved as a nonpolar bulky residue across species, to position itself in closer proximity to the RNA-binding domain and become part of the hydrophobic core for SRP RNA binding. </p><p>Halic et al. (2004) presented the structure of a targeting complex consisting of mammalian SRP bound to an active 80S ribosome carrying a signal sequence. This structure, determined to 12-angstrom resolution by cryoelectron microscopy, enabled Halic et al. (2004) to generate a molecular model of SRP in its functional conformation. The model showed how the S domain of SRP contacts the large ribosomal subunit at the nascent chain exit site to bind the signal sequence, and that the Alu domain reaches into the elongation factor-binding site of the ribosome, explaining its elongation arrest activity. </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>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">
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<p>In 3 unrelated patients with autosomal dominant severe congenital neutropenia-8 (SCN8; 618752) in whom mutations in the SBDS gene (607444) and other bone marrow failure syndrome genes were excluded, Carapito et al. (2017) identified de novo heterozygous mutations in the SRP54 gene (604857.0001-604857.0003). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, affected highly conserved residues in the GTPase domain and were predicted to affect GTP binding. The patients were identified from a cohort of over 84 patients with a similar phenotype who underwent genetic analysis or were ascertained through collaborative efforts. Patient bone marrow cells showed decreased levels of SRP54 mRNA, and the GTPase activity of the mutant proteins was variably reduced compared to controls. Morpholino knockdown of the srp54 gene in zebrafish resulted in similar phenotypic defects that were rescued by wildtype, but not mutant, SRP54. Carapito et al. (2017) postulated either haploinsufficiency or a dominant-negative molecular mechanism. </p><p>In 23 French patients with SCN8, including 16 patients with sporadic disease and 7 with familial disease, Bellanne-Chantelot et al. (2018) identified heterozygous mutations in the SRP54 gene (see, e.g, 604857.0001; 604857.0003; 604857.0004-604857.0006). The mutations, which occurred de novo in the sporadic cases, were all missense variants, except for a recurrent in-frame deletion of conserved residue thr117 (604857.0003), and all occurred in the GTPase domain. The mutations were initially found by whole-exome sequencing in 3 of 8 unrelated patients with sporadic disease (P11, P13, and P19) and in an affected father and daughter (family 14) out of 6 families with the disease. The mutations were confirmed by Sanger sequencing. The subsequent patients were identified from a second cohort of 66 French probands who underwent direct sequencing of the SRP54 gene. In vitro studies showed that patient granulocytes had decreased cellular proliferation, and increased apoptosis compared to controls, as well as evidence of ER stress and induction of autophagy. Knockdown of SRP54 using shRNA in a cell line resulted in similar abnormalities. The authors noted that both neutrophils and pancreatic exocrine cells are highly secretory, possibly rendering them more susceptible to defects in the SRP54 gene, which is involved in the maturation of secretory and membrane proteins. </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>Animal Model</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>Carapito et al. (2017) found that morpholino knockdown of the srp54 orthologs in zebrafish resulted in decreased number of basal neutrophils and impaired neutrophil migration and chemotaxis in response to injury compared to controls, as well as disturbed pancreatic development and exocrine pancreatic dysfunction. These defects could be rescued with wildtype SRP54. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SRP54, GLY226GLU
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<br />
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SNP: rs1555354750,
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ClinVar: RCV000577921, RCV000999504, RCV001266476
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 6-year-old boy (family A) with autosomal dominant severe congenital neutropenia-8 (SCN8; 618752), Carapito et al. (2017) identified a de novo heterozygous c.677G-A transition (c.677G-A, NM_003136.3) in the SRP54 gene, resulting in a gly226-to-glu (G226E) substitution at a highly conserved residue in the GTPase domain. The authors stated that the mutation occurred in exon 8. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the 1000 Genomes Project or ExAC databases, or in various other databases containing more than 100,000 exomes. Patient bone marrow cells showed decreased levels of SRP54 mRNA, and the GTPase activity of the mutant protein was reduced by a factor of 3.5 compared to controls. The patient also had neurodevelopmental delay and autism. </p><p>In a 1.5-year-old French boy (P22) with SCN8, Bellanne-Chantelot et al. (2018) identified a de novo heterozygous c.677G-A transition (c.677G-A, NM_003136.3) in the SRP54 gene, resulting in a G226E substitution. The authors stated that the mutation occurred in exon 9. The mutation was found by direct sequencing of the SRP54 gene. The patient also had neurodevelopmental delay and seizures. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SRP54, THR115ALA
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<br />
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SNP: rs1555354200,
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ClinVar: RCV000577889, RCV000999505
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 16-month-old girl (family B) with autosomal dominant severe congenital neutropenia-8 (SCN8; 618752), Carapito et al. (2017) identified a de novo heterozygous c.343A-G transition (c.343A-G, NM_003136.3) in the SRP54 gene, resulting in a thr115-to-ala (T115A) substitution at a highly conserved residue in the G1 region of the GTPase domain. The authors stated that the mutation occurred in exon 4. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the 1000 Genomes Project or ExAC databases, or in various other databases containing more than 100,000 exomes. Patient bone marrow cells showed decreased levels of SRP54 mRNA, and the GTPase activity of the mutant protein was almost completely abolished compared to controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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SRP54, 3-BP DEL, NT349
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<br />
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SNP: rs1555354198,
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|
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ClinVar: RCV000577900, RCV000731602, RCV000999506, RCV004813105
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 18-year-old man (family C) with autosomal dominant severe congenital neutropenia-8 (SCN8; 618752), Carapito et al. (2017) identified a de novo heterozygous 3-bp in-frame deletion (c.349_351del, NM_003136.3) in the SRP54 gene, resulting in the deletion of highly conserved residue thr117 (Thr117del) in the GTPase domain. The authors stated that the mutation occurred in exon 4. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not present in the 1000 Genomes Project or ExAC databases, or in various other databases containing more than 100,000 exomes. In vitro studies showed that the GTPase activity of the mutant protein was moderately decreased by about 1.6-fold compared to controls. </p><p>Bellanne-Chantelot et al. (2018) identified a heterozygous Thr117del (c.349_351del, NM_003136.3) mutation in the SRP54 gene in 14 French patients with SCN8. The mutation occurred de novo in 7 patients and was inherited from an affected (2) or unaffected mosaic parent (1) in 3 cases; inheritance could not be determined in the 2 remaining cases. These authors stated that the mutation occurred in exon 5. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SRP54, GLY113ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1594996301,
|
|
|
|
|
|
|
|
ClinVar: RCV000999507, RCV003117679
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old French boy (P1) with autosomal dominant severe congenital neutropenia-8 (SCN8; 618752), Bellanne-Chantelot et al. (2018) identified a de novo heterozygous c.337G-C transversion (c.337G-C, NM_003136.3) in exon 5 of the SRP54 gene, resulting in a gly113-to-arg (G113R) substitution at a highly conserved residue in the GTPase domain. The mutation was found by direct sequencing of the SRP54 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SRP54, ALA223ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1595004126,
|
|
|
|
|
|
|
|
ClinVar: RCV000999508
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 43-year-old French man (P21) with autosomal dominant severe congenital neutropenia-8 (SCN8; 618752), Bellanne-Chantelot et al. (2018) identified a de novo heterozygous c.668C-A transversion (c.668C-A, NM_003136.3) in exon 9 of the SRP54 gene, resulting in an ala223-to-asp (A223D) substitution at a highly conserved residue in the GTPase domain. The mutation was found by direct sequencing of the SRP54 gene. The patient also had neurodevelopmental delay and pancreatic lipomatosis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SRP54, GLY274ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1595004676,
|
|
|
|
|
|
|
|
ClinVar: RCV000999509
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 25-year-old French man (P23) with autosomal dominant severe congenital neutropenia-8 (SCN8; 618752), Bellanne-Chantelot et al. (2018) identified a de novo heterozygous c.821G-A transition (c.821G-A, NM_003136.3) in exon 9 of the SRP54 gene, resulting in a gly274-to-asp (G274D) substitution at a highly conserved residue in the GTPase domain. The mutation was found by direct sequencing of the SRP54 gene. The patient also had neurodevelopmental delay and pancreatic lipomatosis. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
|
</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
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<div>
|
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<ol>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bellanne-Chantelot, C., Schmaltz-Panneau, B., Marty, C., Fenneteau, O., Callebaut, I., Clauin, S., Docet, A., Damaj, G.-L., Leblanc, T., Pellier, I., Stoven, C., Souquere, S., and 26 others.
|
|
<strong>Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.</strong>
|
|
Blood 132: 1318-1331, 2018.
|
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|
|
|
[PubMed: 29914977]
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|
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[Full Text: https://doi.org/10.1182/blood-2017-12-820308]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Carapito, R., Konantz, M., Paillard, C., Miao, Z., Pichot, A., Leduc, M. S., Yang, Y., Bergstrom, K. L., Mahoney, D. H., Shardy, D. L., Alsaleh, G., Naegely, L., and 38 others.
|
|
<strong>Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.</strong>
|
|
J. Clin. Invest. 127: 4090-4103, 2017.
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[PubMed: 28972538]
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[Full Text: https://doi.org/10.1172/JCI92876]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gowda, K., Chittenden, K., Zwieb, C.
|
|
<strong>Binding site of the M-domain of human protein SRP54 determined by systematic site-directed mutagenesis of signal recognition particle RNA.</strong>
|
|
Nucleic Acids Res. 25: 388-394, 1997.
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[PubMed: 9016569]
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[Full Text: https://doi.org/10.1093/nar/25.2.388]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Halic, M., Becker, T., Pool, M. R., Spahn, C. M. T., Grassucci, R. A., Frank, J., Beckmann, R.
|
|
<strong>Structure of the signal recognition particle interacting with the elongation-arrested ribosome.</strong>
|
|
Nature 427: 808-814, 2004.
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[PubMed: 14985753]
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[Full Text: https://doi.org/10.1038/nature02342]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Huang, Q., Abdulrahman, S., Yin, J., Zwieb, C.
|
|
<strong>Systematic site-directed mutagenesis of human protein SRP54: interactions with signal recognition particle RNA and modes of signal peptide recognition.</strong>
|
|
Biochemistry 41: 11362-11371, 2002.
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[PubMed: 12234178]
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[Full Text: https://doi.org/10.1021/bi025765t]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Larsen, N., Samuelsson, T., Swieb, C.
|
|
<strong>The Signal Recognition Particle Database (SRPDB).</strong>
|
|
Nucleic Acids Res. 26: 177-178, 1998.
|
|
|
|
|
|
[PubMed: 9399828]
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|
|
[Full Text: https://doi.org/10.1093/nar/26.1.177]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Lingelbach, K., Zwieb, C., Webb, J., Marshallsay, C., Hoben, P., Walter, P., Dobberstein, B.
|
|
<strong>Isolation and characterization of a cDNA clone encoding the 19 kDa protein of signal recognition particle (SRP): expression and binding to 7SL RNA.</strong>
|
|
Nucleic Acids Res. 16: 9431-9442, 1988.
|
|
|
|
|
|
[PubMed: 2460823]
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|
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|
|
[Full Text: https://doi.org/10.1093/nar/16.20.9431]
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Patel, S., Austen, B.
|
|
<strong>Sequence of the highly conserved gene encoding the human 54kDa subunit of signal recognition particle.</strong>
|
|
DNA Seq. 6: 167-170, 1996.
|
|
|
|
|
|
[PubMed: 8722571]
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|
|
|
|
|
[Full Text: https://doi.org/10.3109/10425179609010204]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Pool, M. R., Stumm, J., Fulga, T. A., Sinning, I., Dobberstein, B.
|
|
<strong>Distinct modes of signal recognition particle interaction with the ribosome.</strong>
|
|
Science 297: 1345-1348, 2002.
|
|
|
|
|
|
[PubMed: 12193787]
|
|
|
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|
|
[Full Text: https://doi.org/10.1126/science.1072366]
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</p>
|
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</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Stumpf, A. M.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 1/16/2025.
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|
</p>
|
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</li>
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</ol>
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<div>
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<br />
|
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</div>
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</div>
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