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Entry
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- *607289 - BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 5; BLOC1S5
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- OMIM
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<p>
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<span class="h4">*607289</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607289">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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<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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<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=ENSG00000188428;t=ENST00000397457" 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=63915" 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=607289" 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 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=ENSG00000188428;t=ENST00000397457" 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_001199322,NM_001199323,NM_201280" 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_201280" 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=607289" 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=06289&isoform_id=06289_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/BLOC1S5" 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/19848256,21619084,34582369,41152237,51476805,111599785,111599843,119575629,194375243,313482848,313482852" 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/Q8TDH9" 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=63915" 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=ENSG00000188428;t=ENST00000397457" 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=BLOC1S5" 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=BLOC1S5" 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+63915" 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/BLOC1S5" 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:63915" 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/63915" 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=chr6&hgg_gene=ENST00000397457.7&hgg_start=8013567&hgg_end=8064414&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div 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://search.clinicalgenome.org/kb/genes/HGNC:18561" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607289[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607289[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000188428" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=BLOC1S5" 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=BLOC1S5" 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=BLOC1S5&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/PA134921692" 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:18561" 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/FBgn0083967.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2178598" 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/BLOC1S5#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2178598" 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/63915/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=63915" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-3502" 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://reactome.org/content/query?q=BLOC1S5&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607289
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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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BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 5; BLOC1S5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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BLOC1, SUBUNIT 5; BLOS5<br />
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MUTED, MOUSE, HOMOLOG OF; MUTED
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<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=BLOC1S5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">BLOC1S5</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/6/45?start=-3&limit=10&highlight=45">6p24.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:8013567-8064414&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'})">6:8,013,567-8,064,414</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/6/45?start=-3&limit=10&highlight=45">
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6p24.3
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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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Hermansky-Pudlak syndrome 11
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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/619172"> 619172 </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 recessive">AR</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/607289" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/607289" 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>The muted (mu) mouse is a model for Hermansky-Pudlak Syndrome (HPS; <a href="/entry/203300">203300</a>). Mice with mutations in the muted gene have light eyes at birth and fur of a muted brown shade.</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p><a href="#3" class="mim-tip-reference" title="Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T. <strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong> Hum. Molec. Genet. 11: 697-706, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912185</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912185[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/11.6.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912185">Zhang et al. (2002)</a> identified and cloned the mouse muted gene. Full-length muted cDNA encodes a deduced 185-amino acid protein. Northern blot analysis revealed ubiquitous expression of a 1.8-kb transcript in normal mice, with higher levels in brain, bone marrow, kidney, and liver and lower levels in skeletal muscle. By transfection of mouse melanocytes with epitope-tagged muted constructs, <a href="#3" class="mim-tip-reference" title="Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T. <strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong> Hum. Molec. Genet. 11: 697-706, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912185</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912185[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/11.6.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912185">Zhang et al. (2002)</a> found muted protein in vesicles distributed throughout the cell body and dendrites. Comparison with bright field images established that the vesicles were not coincident with melanosomes. Transfected COS-7 cells exhibited a similar vesicular pattern throughout the cell body. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11912185" 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="#3" class="mim-tip-reference" title="Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T. <strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong> Hum. Molec. Genet. 11: 697-706, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912185</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912185[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/11.6.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912185">Zhang et al. (2002)</a> cloned the human muted gene by RT-PCR, 5-prime RACE, and 3-prime RACE of human placenta mRNA. The deduced protein has 187 amino acids and contains a possible vacuolar targeting motif (TLPK) that is absent from the mouse sequence. The mouse and human proteins share 76% sequence identity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11912185" 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 Western blot analysis of wildtype mouse fibroblasts, <a href="#1" class="mim-tip-reference" title="Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C. <strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong> J. Biol. Chem. 277: 28191-28199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12019270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12019270</a>] [<a href="https://doi.org/10.1074/jbc.M204011200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12019270">Falcon-Perez et al. (2002)</a> detected expression of a 23-kD muted protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12019270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T. <strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong> Hum. Molec. Genet. 11: 697-706, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912185</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912185[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/11.6.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912185">Zhang et al. (2002)</a> determined that the mouse muted gene contains 5 exons and spans 52 kb. The genomic structure of the human muted gene is similar. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11912185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T. <strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong> Hum. Molec. Genet. 11: 697-706, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912185</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912185[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/11.6.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912185">Zhang et al. (2002)</a> mapped the mouse muted gene to a segment of chromosome 13 that shows homology of synteny to human chromosome 6p24-p23. By genomic sequence analysis, they mapped the human gene to chromosome 6p25.1-p24.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11912185" 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 coimmunoprecipitation and immunodepletion experiments of mouse skin fibroblasts, <a href="#1" class="mim-tip-reference" title="Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C. <strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong> J. Biol. Chem. 277: 28191-28199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12019270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12019270</a>] [<a href="https://doi.org/10.1074/jbc.M204011200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12019270">Falcon-Perez et al. (2002)</a> identified muted as a component of BLOC1 (biogenesis of lysosome-related organelles complex-1), which also contains pallidin (PLDN; <a href="/entry/604310">604310</a>). A yeast 2-hybrid screen found no direct interaction between muted and pallidin, but pallidin was found to interact with itself. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12019270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated women with Hermansky-Pudlak syndrome-11 (HPS11; <a href="/entry/619172">619172</a>), who were negative for mutation in known HPS-associated genes, <a href="#2" class="mim-tip-reference" title="Pennamen, P., Le, L., Tingaud-Sequeira, A., Fiore, M., Bauters, A., Van Duong Beatrice, N., Coste, V., Bordet, J. C., Plaisant, C., Diallo, M., Michaud, V., Trimouille, A., Lacombe, D., Lasseaux, E., Delevoye, C., Picard, F. M., Delobel, B., Marks, M. S., Arveiler, B. <strong>BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.</strong> Genet. Med. 22: 1613-1622, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32565547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32565547</a>] [<a href="https://doi.org/10.1038/s41436-020-0867-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32565547">Pennamen et al. (2020)</a> identified homozygosity for deletions in the BLOC1S5 gene: patient 1 had an intragenic deletion involving exons 3 and 4 (<a href="#0001">607289.0001</a>) and patient 2 had a 1-bp deletion (<a href="#0002">607289.0002</a>). Functional analysis of mutant BLOC1S5 from patient 1 demonstrated that the mutant protein was unable to restore BLOC1 stability or function in melanogenesis and protein sorting in murine melanocytes lacking the orthologous BLOC1S5/muted protein, suggesting that this represents a loss-of-function variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32565547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T. <strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong> Hum. Molec. Genet. 11: 697-706, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912185</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912185[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/11.6.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912185">Zhang et al. (2002)</a> noted that 'muted' (mu) mice show hypopigmentation, hemorrhaging, and early death due to lung abnormalities. Ultrastructural examination revealed that the eyes of adult muted mice had reduced total number of melanosomes within the retinal pigment epithelium and significantly reduced number within the choroid. Northern blot analysis revealed a lack of muted transcript in tissues obtained from muted mice; intermediate amounts of transcript were detected in heterozygous mice. <a href="#3" class="mim-tip-reference" title="Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T. <strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong> Hum. Molec. Genet. 11: 697-706, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912185</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912185[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/11.6.697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11912185">Zhang et al. (2002)</a> determined that expression of muted was abrogated in a mutant allele containing an insertion of an early transposon (ETn) retrotransposon. Expression was likewise lost in the muted(J) allele, which has a 1-bp deletion within the coding region. The mu mouse is a model for Hermansky-Pudlak syndrome (HPS; see <a href="/entry/203300">203300</a>). The mu gene encodes a ubiquitously expressed transcript, specifying a predicted 185-amino acid protein, whose expression is abrogated in the mu allele by insertion of an early transposon (ETn) retrotransposon. Mu mice demonstrated structurally aberrant melanosomes in the eyes; the muted protein was localized by immunofluorescence within vesicles of the cell body and dendrites of transfected melanocytes, suggesting a role of the mu gene in vesicle trafficking. The mu gene was present only in mice and humans among analyzed genomes, and BACs containing the human homolog were previously localized to chromosome 6p24.3-p25.1. The authors concluded that the mu gene is a member of a novel gene set found among higher eukaryotes which regulates the synthesis/function of highly specialized subcellular organelles such as melanosomes and platelet dense granules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11912185" 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="Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C. <strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong> J. Biol. Chem. 277: 28191-28199, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12019270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12019270</a>] [<a href="https://doi.org/10.1074/jbc.M204011200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12019270">Falcon-Perez et al. (2002)</a> detected no muted protein in fibroblasts from muted mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12019270" 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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BLOC1S5, EX3-EX4 DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001290297" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001290297" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001290297</a>
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<p>In a 20-year-old French woman with mild oculocutaneous albinism and a bleeding diathesis (HPS11; <a href="/entry/619172">619172</a>), <a href="#2" class="mim-tip-reference" title="Pennamen, P., Le, L., Tingaud-Sequeira, A., Fiore, M., Bauters, A., Van Duong Beatrice, N., Coste, V., Bordet, J. C., Plaisant, C., Diallo, M., Michaud, V., Trimouille, A., Lacombe, D., Lasseaux, E., Delevoye, C., Picard, F. M., Delobel, B., Marks, M. S., Arveiler, B. <strong>BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.</strong> Genet. Med. 22: 1613-1622, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32565547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32565547</a>] [<a href="https://doi.org/10.1038/s41436-020-0867-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32565547">Pennamen et al. (2020)</a> identified homozygosity for a 19,063-bp deletion (c.196-678_384+3483del, NM_201280.2) encompassing exons 3 and 4 of the BLOC1S5 gene. The deletion was present in heterozygosity in her unaffected parents. The breakpoints were located within a region of 100% homology in introns 2 and 4, suggesting that the deletion resulted from a nonallelic homologous recombination event. Western blot analysis of the patient's platelet lysates showed reduced or absent levels of pallidin (BLOC1S6; <a href="/entry/604310">604310</a>) and dysbindin (DTNBP1; <a href="/entry/607145">607145</a>) compared to controls. Functional analysis demonstrated that the mutant protein was unable to restore BLOC1 stability or function in melanogenesis and protein sorting in murine melanocytes lacking the orthologous BLOC1S5/muted protein, suggesting that this represents a loss-of-function variant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32565547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 HERMANSKY-PUDLAK SYNDROME 11</strong>
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BLOC1S5, 1-BP DEL, NT345
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1763106978 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1763106978;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=rs1763106978" 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=rs1763106978" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001260551 OR RCV001290298" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001260551, RCV001290298" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001260551...</a>
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<p>In a 39-year-old Slovenian woman with mild oculocutaneous albinism and a bleeding diathesis (HPS11; <a href="/entry/619172">619172</a>), <a href="#2" class="mim-tip-reference" title="Pennamen, P., Le, L., Tingaud-Sequeira, A., Fiore, M., Bauters, A., Van Duong Beatrice, N., Coste, V., Bordet, J. C., Plaisant, C., Diallo, M., Michaud, V., Trimouille, A., Lacombe, D., Lasseaux, E., Delevoye, C., Picard, F. M., Delobel, B., Marks, M. S., Arveiler, B. <strong>BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.</strong> Genet. Med. 22: 1613-1622, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32565547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32565547</a>] [<a href="https://doi.org/10.1038/s41436-020-0867-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32565547">Pennamen et al. (2020)</a> identified homozygosity for a 1-bp deletion (c.345del, NM_201280.2) in exon 4 of the BLOC1S5 gene, causing a frameshift predicted to result in a premature termination codon (Val116SerfsTer19). Parental DNA was unavailable for segregation analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32565547" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Falcon-Perez2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C.
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<strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong>
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J. Biol. Chem. 277: 28191-28199, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12019270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12019270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12019270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M204011200" target="_blank">Full Text</a>]
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<a id="Pennamen2020" class="mim-anchor"></a>
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<p class="mim-text-font">
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Pennamen, P., Le, L., Tingaud-Sequeira, A., Fiore, M., Bauters, A., Van Duong Beatrice, N., Coste, V., Bordet, J. C., Plaisant, C., Diallo, M., Michaud, V., Trimouille, A., Lacombe, D., Lasseaux, E., Delevoye, C., Picard, F. M., Delobel, B., Marks, M. S., Arveiler, B.
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<strong>BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.</strong>
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Genet. Med. 22: 1613-1622, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32565547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32565547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32565547" 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/s41436-020-0867-5" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Zhang2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T.
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<strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong>
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Hum. Molec. Genet. 11: 697-706, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11912185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11912185</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11912185[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=11912185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.6.697" target="_blank">Full Text</a>]
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Contributors:
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 01/29/2021
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Patricia A. Hartz : 10/9/2002
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alopez : 01/29/2021
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<span class="mim-text-font">
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mgross : 04/15/2013<br>alopez : 7/1/2011<br>alopez : 1/9/2006<br>mgross : 10/9/2002
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<strong>*</strong> 607289
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BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 5; BLOC1S5
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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BLOC1, SUBUNIT 5; BLOS5<br />
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MUTED, MOUSE, HOMOLOG OF; MUTED
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<strong><em>HGNC Approved Gene Symbol: BLOC1S5</em></strong>
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Cytogenetic location: 6p24.3
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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6p24.3
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<span class="mim-font">
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Hermansky-Pudlak syndrome 11
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<span class="mim-font">
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619172
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>The muted (mu) mouse is a model for Hermansky-Pudlak Syndrome (HPS; 203300). Mice with mutations in the muted gene have light eyes at birth and fur of a muted brown shade.</p>
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<strong>Cloning and Expression</strong>
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<p>Zhang et al. (2002) identified and cloned the mouse muted gene. Full-length muted cDNA encodes a deduced 185-amino acid protein. Northern blot analysis revealed ubiquitous expression of a 1.8-kb transcript in normal mice, with higher levels in brain, bone marrow, kidney, and liver and lower levels in skeletal muscle. By transfection of mouse melanocytes with epitope-tagged muted constructs, Zhang et al. (2002) found muted protein in vesicles distributed throughout the cell body and dendrites. Comparison with bright field images established that the vesicles were not coincident with melanosomes. Transfected COS-7 cells exhibited a similar vesicular pattern throughout the cell body. </p><p>Zhang et al. (2002) cloned the human muted gene by RT-PCR, 5-prime RACE, and 3-prime RACE of human placenta mRNA. The deduced protein has 187 amino acids and contains a possible vacuolar targeting motif (TLPK) that is absent from the mouse sequence. The mouse and human proteins share 76% sequence identity. </p><p>By Western blot analysis of wildtype mouse fibroblasts, Falcon-Perez et al. (2002) detected expression of a 23-kD muted protein. </p>
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<strong>Gene Structure</strong>
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<p>Zhang et al. (2002) determined that the mouse muted gene contains 5 exons and spans 52 kb. The genomic structure of the human muted gene is similar. </p>
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<strong>Mapping</strong>
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<p>Zhang et al. (2002) mapped the mouse muted gene to a segment of chromosome 13 that shows homology of synteny to human chromosome 6p24-p23. By genomic sequence analysis, they mapped the human gene to chromosome 6p25.1-p24.3. </p>
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<strong>Gene Function</strong>
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<p>By coimmunoprecipitation and immunodepletion experiments of mouse skin fibroblasts, Falcon-Perez et al. (2002) identified muted as a component of BLOC1 (biogenesis of lysosome-related organelles complex-1), which also contains pallidin (PLDN; 604310). A yeast 2-hybrid screen found no direct interaction between muted and pallidin, but pallidin was found to interact with itself. </p>
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<strong>Molecular Genetics</strong>
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<p>In 2 unrelated women with Hermansky-Pudlak syndrome-11 (HPS11; 619172), who were negative for mutation in known HPS-associated genes, Pennamen et al. (2020) identified homozygosity for deletions in the BLOC1S5 gene: patient 1 had an intragenic deletion involving exons 3 and 4 (607289.0001) and patient 2 had a 1-bp deletion (607289.0002). Functional analysis of mutant BLOC1S5 from patient 1 demonstrated that the mutant protein was unable to restore BLOC1 stability or function in melanogenesis and protein sorting in murine melanocytes lacking the orthologous BLOC1S5/muted protein, suggesting that this represents a loss-of-function variant. </p>
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<strong>Animal Model</strong>
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<p>Zhang et al. (2002) noted that 'muted' (mu) mice show hypopigmentation, hemorrhaging, and early death due to lung abnormalities. Ultrastructural examination revealed that the eyes of adult muted mice had reduced total number of melanosomes within the retinal pigment epithelium and significantly reduced number within the choroid. Northern blot analysis revealed a lack of muted transcript in tissues obtained from muted mice; intermediate amounts of transcript were detected in heterozygous mice. Zhang et al. (2002) determined that expression of muted was abrogated in a mutant allele containing an insertion of an early transposon (ETn) retrotransposon. Expression was likewise lost in the muted(J) allele, which has a 1-bp deletion within the coding region. The mu mouse is a model for Hermansky-Pudlak syndrome (HPS; see 203300). The mu gene encodes a ubiquitously expressed transcript, specifying a predicted 185-amino acid protein, whose expression is abrogated in the mu allele by insertion of an early transposon (ETn) retrotransposon. Mu mice demonstrated structurally aberrant melanosomes in the eyes; the muted protein was localized by immunofluorescence within vesicles of the cell body and dendrites of transfected melanocytes, suggesting a role of the mu gene in vesicle trafficking. The mu gene was present only in mice and humans among analyzed genomes, and BACs containing the human homolog were previously localized to chromosome 6p24.3-p25.1. The authors concluded that the mu gene is a member of a novel gene set found among higher eukaryotes which regulates the synthesis/function of highly specialized subcellular organelles such as melanosomes and platelet dense granules. </p><p>Falcon-Perez et al. (2002) detected no muted protein in fibroblasts from muted mice. </p>
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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>2 Selected Examples):</strong>
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</h4>
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<div>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 HERMANSKY-PUDLAK SYNDROME 11</strong>
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</span>
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</h4>
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BLOC1S5, EX3-EX4 DEL
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ClinVar: RCV001290297
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<p>In a 20-year-old French woman with mild oculocutaneous albinism and a bleeding diathesis (HPS11; 619172), Pennamen et al. (2020) identified homozygosity for a 19,063-bp deletion (c.196-678_384+3483del, NM_201280.2) encompassing exons 3 and 4 of the BLOC1S5 gene. The deletion was present in heterozygosity in her unaffected parents. The breakpoints were located within a region of 100% homology in introns 2 and 4, suggesting that the deletion resulted from a nonallelic homologous recombination event. Western blot analysis of the patient's platelet lysates showed reduced or absent levels of pallidin (BLOC1S6; 604310) and dysbindin (DTNBP1; 607145) compared to controls. Functional analysis demonstrated that the mutant protein was unable to restore BLOC1 stability or function in melanogenesis and protein sorting in murine melanocytes lacking the orthologous BLOC1S5/muted protein, suggesting that this represents a loss-of-function variant. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>.0002 HERMANSKY-PUDLAK SYNDROME 11</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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BLOC1S5, 1-BP DEL, NT345
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<br />
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SNP: rs1763106978,
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ClinVar: RCV001260551, RCV001290298
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<span class="mim-text-font">
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<p>In a 39-year-old Slovenian woman with mild oculocutaneous albinism and a bleeding diathesis (HPS11; 619172), Pennamen et al. (2020) identified homozygosity for a 1-bp deletion (c.345del, NM_201280.2) in exon 4 of the BLOC1S5 gene, causing a frameshift predicted to result in a premature termination codon (Val116SerfsTer19). Parental DNA was unavailable for segregation analysis. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p />
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<ol>
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<li>
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<p class="mim-text-font">
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Falcon-Perez, J. M., Starcevic, M., Gautam, R., Dell'Angelica, E. C.
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<strong>BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.</strong>
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J. Biol. Chem. 277: 28191-28199, 2002.
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[PubMed: 12019270]
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[Full Text: https://doi.org/10.1074/jbc.M204011200]
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<li>
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<p class="mim-text-font">
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Pennamen, P., Le, L., Tingaud-Sequeira, A., Fiore, M., Bauters, A., Van Duong Beatrice, N., Coste, V., Bordet, J. C., Plaisant, C., Diallo, M., Michaud, V., Trimouille, A., Lacombe, D., Lasseaux, E., Delevoye, C., Picard, F. M., Delobel, B., Marks, M. S., Arveiler, B.
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<strong>BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.</strong>
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Genet. Med. 22: 1613-1622, 2020.
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[PubMed: 32565547]
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[Full Text: https://doi.org/10.1038/s41436-020-0867-5]
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<p class="mim-text-font">
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Zhang, Q., Li, W., Novak, E. K., Karim, A., Mishra, V., Kingsmore, S. F., Roe, B. A., Suzuki, T., Swank, R. T.
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<strong>The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.</strong>
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Hum. Molec. Genet. 11: 697-706, 2002.
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[PubMed: 11912185]
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[Full Text: https://doi.org/10.1093/hmg/11.6.697]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 01/29/2021
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 10/9/2002
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alopez : 01/29/2021<br>mgross : 04/15/2013<br>alopez : 7/1/2011<br>alopez : 1/9/2006<br>mgross : 10/9/2002
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