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<title>
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Entry
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- *610662 - PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Y PROTEIN; PIGY
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<a href="/search/advanced/entry"> OMIM </a>
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p>
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<span class="h4">*610662</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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</li>
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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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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</li>
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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/610662">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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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=ENSG00000255072;t=ENST00000527353" 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=84992" 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=610662" 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=ENSG00000255072;t=ENST00000527353" 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_001042616" 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_001042616" 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=610662" 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=17492&isoform_id=17492_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/PIGY" 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/75674192,110815929,111494230,133777004" 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/Q3MUY2" 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=84992" 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=ENSG00000255072;t=ENST00000527353" 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=PIGY" 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=PIGY" 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+84992" 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/PIGY" 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:84992" 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/84992" 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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610662[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610662[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/ENSG00000255072" 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=PIGY" 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=PIGY" 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=PIGY&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/PA143485576" 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:28213" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1913518" 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/PIGY#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:1913518" 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/84992/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=84992" 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>
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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:84992" 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=PIGY&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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610662
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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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PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Y PROTEIN; PIGY
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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=PIGY" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PIGY</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/4/403?start=-3&limit=10&highlight=403">4q22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:88520998-88523776&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">4:88,520,998-88,523,776</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/4/403?start=-3&limit=10&highlight=403">
|
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4q22.1
|
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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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Hyperphosphatasia with impaired intellectual development syndrome 6
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616809"> 616809 </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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/610662" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610662" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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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<p />
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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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<a id="text" class="mim-anchor"></a>
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<h4>
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<p>GPI acts as a membrane anchor for numerous cell surface proteins. It is initially synthesized by the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to generate GlcNAc-phosphatidylinositol (GlcNAc-PI). This reaction is catalyzed by the enzymatic complex of GPI-acetylglucosaminyltransferase (GPI-GnT), which in mammalian cells has been found to consist of at least 7 proteins, including PIGY (<a href="#3" class="mim-tip-reference" title="Murakami, Y., Siripanyaphinyo, U., Hong, Y., Tashima, Y., Maeda, Y., Kinoshita, T. <strong>The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.</strong> Molec. Biol. Cell 16: 5236-5246, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16162815[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/10.1091/mbc.e05-08-0743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162815">Murakami et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16162815" 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 the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA (<a href="/entry/311770">311770</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Murakami, Y., Siripanyaphinyo, U., Hong, Y., Tashima, Y., Maeda, Y., Kinoshita, T. <strong>The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.</strong> Molec. Biol. Cell 16: 5236-5246, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16162815[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/10.1091/mbc.e05-08-0743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162815">Murakami et al. (2005)</a> determined that Daudi Burkitt lymphoma cells, which are defective in GPI-GnT activity, could not be rescued by any of the 6 known proteins contained in GPI-GnT, suggesting that an additional protein was required for GPI-GnT activity. Using affinity purification followed by SDS-PAGE analysis and peptide sequencing, the authors identified and cloned the gene encoding this protein, phosphatidylinositol glycan class Y (PIGY). PIGY, a 71-amino acid protein with a molecular mass of 6.5 kD, contains 2 putative transmembrane domains. PIGY has homologs in mouse, rice, and yeast, with amino acid identities of 79%, 25%, and 22%, respectively. Permeabilization experiments using tagged PIGY showed that the N terminus of PIGY is cytoplasmic, and <a href="#3" class="mim-tip-reference" title="Murakami, Y., Siripanyaphinyo, U., Hong, Y., Tashima, Y., Maeda, Y., Kinoshita, T. <strong>The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.</strong> Molec. Biol. Cell 16: 5236-5246, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16162815[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/10.1091/mbc.e05-08-0743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162815">Murakami et al. (2005)</a> predicted the C terminus to be cytoplasmic as well based on the hydrophobicity profile. Transfection of PIGY into Daudi cells restored GPI-GnT activity, and RT-PCR demonstrated that Daudi cells contained no PIGY transcript. Northern blot analysis, RT-PCR, and database analysis showed that PIGY is translated from a bicistronic mRNA that encodes both PIGY and an upstream coding sequence for PreY (PYURF; <a href="/entry/619956">619956</a>). Expression of mutagenized constructs in HeLa cells showed that separate PIGY translation is initiated by leaky scanning at the PreY initiation site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16162815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using genomic sequence analysis, <a href="#3" class="mim-tip-reference" title="Murakami, Y., Siripanyaphinyo, U., Hong, Y., Tashima, Y., Maeda, Y., Kinoshita, T. <strong>The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.</strong> Molec. Biol. Cell 16: 5236-5246, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16162815[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/10.1091/mbc.e05-08-0743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162815">Murakami et al. (2005)</a> found that PIGY is encoded by a bicistronic mRNA that contains 2 exons. PIGY is contained within exon 2, and the gene PreY is contained within exon 1 and the 5-prime portion of exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16162815" 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="#1" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 2/16/2016."None>Gross (2016)</a> mapped the PIGY gene to chromosome 4q22.1 based on an alignment of the PIGY sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC007876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC007876</a>) with the genomic sequence (GRCh38).</p>
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<p>Using coimmunoprecipitation experiments, <a href="#3" class="mim-tip-reference" title="Murakami, Y., Siripanyaphinyo, U., Hong, Y., Tashima, Y., Maeda, Y., Kinoshita, T. <strong>The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.</strong> Molec. Biol. Cell 16: 5236-5246, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16162815[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/10.1091/mbc.e05-08-0743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16162815">Murakami et al. (2005)</a> showed that PIGY was not required for the other members of the GPI-GnT complex to associate, and that PIGY associated strongly with PIGA and weakly with the other GPI-GnT complex proteins. PreY was not required for biosynthesis of GPI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16162815" 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 sisters, born of Australian parents, with hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6; <a href="/entry/616809">616809</a>), <a href="#2" class="mim-tip-reference" title="Ilkovski, B., Pagnamenta, A. T., O'Grady, G. L., Kinoshita, T., Howard, M. F., Lek, M., Thomas, B., Turner, A., Christodoulou, J., Sillence, D., Knight, S. J. L., and 13 others. <strong>Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.</strong> Hum. Molec. Genet. 24: 6146-6159, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26293662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26293662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26293662[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/ddv331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26293662">Ilkovski et al. (2015)</a> identified a homozygous missense mutation in the PIGY gene (L46P; <a href="#0001">610662.0001</a>). The mutation was identified by whole-exome sequencing and segregated with the disorder in the family. Patient fibroblasts showed a 20 to 50% reduction in surface expression of GPI-anchored proteins CD55 (<a href="/entry/125240">125240</a>) and CD59 (<a href="/entry/107271">107271</a>), consistent with impaired PIGY function. Two Pakistani sibs, born of consanguineous parents, with a mild form of HPMRS6 were found to have a homozygous mutation in the promoter region of the PIGY gene (<a href="#0002">610662.0002</a>). Patient blood cells showed significantly decreased PIGY expression (6-10% of controls). Patient fibroblasts were not available for study of GPI-anchored proteins, but granulocytes showed normal CD16 surface expression (see <a href="/entry/146740">146740</a>), indicating that PIGY levels in some tissues are sufficient for normal GPI synthesis. These findings were consistent with the less severe phenotype in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26293662" 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">rs869025322 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025322;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=rs869025322" 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=rs869025322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sisters, born of Australian parents, with hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6; <a href="/entry/616809">616809</a>), <a href="#2" class="mim-tip-reference" title="Ilkovski, B., Pagnamenta, A. T., O'Grady, G. L., Kinoshita, T., Howard, M. F., Lek, M., Thomas, B., Turner, A., Christodoulou, J., Sillence, D., Knight, S. J. L., and 13 others. <strong>Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.</strong> Hum. Molec. Genet. 24: 6146-6159, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26293662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26293662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26293662[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/ddv331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26293662">Ilkovski et al. (2015)</a> identified a homozygous c.137T-C transition (c.137T-C, NM_001042616.1) in the PIGY gene, resulting in a leu46-to-pro (L46P) substitution at a conserved residue in the second putative transmembrane domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases. Autozygosity mapping suggested that the parents may be distantly related. Patient fibroblasts showed a 20 to 50% reduction in surface expression of GPI-anchored proteins CD55 (<a href="/entry/125240">125240</a>) and CD59 (<a href="/entry/107271">107271</a>). Transfection of the mutation into PIGY-null cells could only partially restore CD55 and CD59 expression under a strong promoter. Western blot analysis showed decreased expression of the mutant protein, consistent with reduced stability. The findings suggested that the mutation disrupts GPI biosynthesis or interferes with GPI anchoring capacity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26293662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0002" class="mim-anchor"></a>
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<strong>.0002 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6</strong>
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PIGY, -540G-A, PROMOTER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869025323 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869025323;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=rs869025323" 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=rs869025323" 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=RCV000207473" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000207473" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000207473</a>
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<p>In 2 sibs, born of consanguineous parents of Pakistani descent, with a mild variant of hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6; <a href="/entry/616809">616809</a>), <a href="#2" class="mim-tip-reference" title="Ilkovski, B., Pagnamenta, A. T., O'Grady, G. L., Kinoshita, T., Howard, M. F., Lek, M., Thomas, B., Turner, A., Christodoulou, J., Sillence, D., Knight, S. J. L., and 13 others. <strong>Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.</strong> Hum. Molec. Genet. 24: 6146-6159, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26293662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26293662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26293662[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/ddv331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26293662">Ilkovski et al. (2015)</a> identified a homozygous c.-540G-A transition (c.-540G-A, NM_001042616.1) in a conserved region of the PIGY 5-prime untranslated region with putative disruption of a consensus SP1 (<a href="/entry/189906">189906</a>) transcription factor binding site. The mutation, which was found by a combination of autozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the 1000 Genomes Project or Exome Variant Server databases, in 274 in-house genomes of mixed ancestry, or in 108 Punjabi individuals. Patient blood cells showed significantly decreased PIGY expression (6-10% of controls). Patient fibroblasts were not available for study of GPI-anchored proteins, but granulocytes showed normal CD16 surface expression (see <a href="/entry/146740">146740</a>), indicating that PIGY levels in some tissues are sufficient for normal GPI synthesis. These findings were consistent with the less severe phenotype in these patients compared to other patients (see <a href="#0001">610662.0001</a>). Alkaline phosphatase levels in the Pakistani sibs were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26293662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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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="Gross2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/16/2016.
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<a id="Ilkovski2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ilkovski, B., Pagnamenta, A. T., O'Grady, G. L., Kinoshita, T., Howard, M. F., Lek, M., Thomas, B., Turner, A., Christodoulou, J., Sillence, D., Knight, S. J. L., and 13 others.
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<strong>Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.</strong>
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Hum. Molec. Genet. 24: 6146-6159, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26293662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26293662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26293662[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=26293662" 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/ddv331" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Murakami2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Murakami, Y., Siripanyaphinyo, U., Hong, Y., Tashima, Y., Maeda, Y., Kinoshita, T.
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<strong>The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.</strong>
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Molec. Biol. Cell 16: 5236-5246, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16162815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16162815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16162815[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=16162815" 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/10.1091/mbc.e05-08-0743" target="_blank">Full Text</a>]
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</p>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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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 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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Matthew B. Gross - updated : 01/10/2018
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 2/16/2016<br>Cassandra L. Kniffin - updated : 2/11/2016<br>Patricia A. Hartz - updated : 4/29/2014
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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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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Laura L. Baxter : 12/19/2006
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/19/2022
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<span class="mim-text-font">
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carol : 07/13/2022<br>mgross : 01/10/2018<br>carol : 01/04/2018<br>mgross : 04/25/2016<br>mgross : 2/16/2016<br>carol : 2/12/2016<br>ckniffin : 2/11/2016<br>mgross : 5/7/2014<br>mcolton : 4/29/2014<br>alopez : 12/20/2006
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 610662
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<div>
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<h3>
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<span class="mim-font">
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PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS Y PROTEIN; PIGY
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</h3>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: PIGY</em></strong>
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<strong>
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<em>
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Cytogenetic location: 4q22.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:88,520,998-88,523,776 </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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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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4q22.1
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<span class="mim-font">
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Hyperphosphatasia with impaired intellectual development syndrome 6
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<span class="mim-font">
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616809
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<span class="mim-font">
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Autosomal recessive
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</span>
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<td>
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<span class="mim-font">
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3
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>GPI acts as a membrane anchor for numerous cell surface proteins. It is initially synthesized by the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to generate GlcNAc-phosphatidylinositol (GlcNAc-PI). This reaction is catalyzed by the enzymatic complex of GPI-acetylglucosaminyltransferase (GPI-GnT), which in mammalian cells has been found to consist of at least 7 proteins, including PIGY (Murakami et al., 2005). </p><p>For information on the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA (311770).</p>
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<br />
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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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<span class="mim-text-font">
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<p>Murakami et al. (2005) determined that Daudi Burkitt lymphoma cells, which are defective in GPI-GnT activity, could not be rescued by any of the 6 known proteins contained in GPI-GnT, suggesting that an additional protein was required for GPI-GnT activity. Using affinity purification followed by SDS-PAGE analysis and peptide sequencing, the authors identified and cloned the gene encoding this protein, phosphatidylinositol glycan class Y (PIGY). PIGY, a 71-amino acid protein with a molecular mass of 6.5 kD, contains 2 putative transmembrane domains. PIGY has homologs in mouse, rice, and yeast, with amino acid identities of 79%, 25%, and 22%, respectively. Permeabilization experiments using tagged PIGY showed that the N terminus of PIGY is cytoplasmic, and Murakami et al. (2005) predicted the C terminus to be cytoplasmic as well based on the hydrophobicity profile. Transfection of PIGY into Daudi cells restored GPI-GnT activity, and RT-PCR demonstrated that Daudi cells contained no PIGY transcript. Northern blot analysis, RT-PCR, and database analysis showed that PIGY is translated from a bicistronic mRNA that encodes both PIGY and an upstream coding sequence for PreY (PYURF; 619956). Expression of mutagenized constructs in HeLa cells showed that separate PIGY translation is initiated by leaky scanning at the PreY initiation site. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Using genomic sequence analysis, Murakami et al. (2005) found that PIGY is encoded by a bicistronic mRNA that contains 2 exons. PIGY is contained within exon 2, and the gene PreY is contained within exon 1 and the 5-prime portion of exon 2. </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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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Gross (2016) mapped the PIGY gene to chromosome 4q22.1 based on an alignment of the PIGY sequence (GenBank BC007876) with the genomic sequence (GRCh38).</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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</h4>
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<span class="mim-text-font">
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<p>Using coimmunoprecipitation experiments, Murakami et al. (2005) showed that PIGY was not required for the other members of the GPI-GnT complex to associate, and that PIGY associated strongly with PIGA and weakly with the other GPI-GnT complex proteins. PreY was not required for biosynthesis of GPI. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In 2 sisters, born of Australian parents, with hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6; 616809), Ilkovski et al. (2015) identified a homozygous missense mutation in the PIGY gene (L46P; 610662.0001). The mutation was identified by whole-exome sequencing and segregated with the disorder in the family. Patient fibroblasts showed a 20 to 50% reduction in surface expression of GPI-anchored proteins CD55 (125240) and CD59 (107271), consistent with impaired PIGY function. Two Pakistani sibs, born of consanguineous parents, with a mild form of HPMRS6 were found to have a homozygous mutation in the promoter region of the PIGY gene (610662.0002). Patient blood cells showed significantly decreased PIGY expression (6-10% of controls). Patient fibroblasts were not available for study of GPI-anchored proteins, but granulocytes showed normal CD16 surface expression (see 146740), indicating that PIGY levels in some tissues are sufficient for normal GPI synthesis. These findings were consistent with the less severe phenotype in these patients. </p>
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<br />
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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>2 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 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6</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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PIGY, LEU46PRO
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<br />
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SNP: rs869025322,
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ClinVar: RCV000207478
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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 2 sisters, born of Australian parents, with hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6; 616809), Ilkovski et al. (2015) identified a homozygous c.137T-C transition (c.137T-C, NM_001042616.1) in the PIGY gene, resulting in a leu46-to-pro (L46P) substitution at a conserved residue in the second putative transmembrane domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases. Autozygosity mapping suggested that the parents may be distantly related. Patient fibroblasts showed a 20 to 50% reduction in surface expression of GPI-anchored proteins CD55 (125240) and CD59 (107271). Transfection of the mutation into PIGY-null cells could only partially restore CD55 and CD59 expression under a strong promoter. Western blot analysis showed decreased expression of the mutant protein, consistent with reduced stability. The findings suggested that the mutation disrupts GPI biosynthesis or interferes with GPI anchoring capacity. </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">
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<strong>.0002 HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 6</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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PIGY, -540G-A, PROMOTER
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<br />
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SNP: rs869025323,
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ClinVar: RCV000207473
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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 2 sibs, born of consanguineous parents of Pakistani descent, with a mild variant of hyperphosphatasia with impaired intellectual development syndrome-6 (HPMRS6; 616809), Ilkovski et al. (2015) identified a homozygous c.-540G-A transition (c.-540G-A, NM_001042616.1) in a conserved region of the PIGY 5-prime untranslated region with putative disruption of a consensus SP1 (189906) transcription factor binding site. The mutation, which was found by a combination of autozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the 1000 Genomes Project or Exome Variant Server databases, in 274 in-house genomes of mixed ancestry, or in 108 Punjabi individuals. Patient blood cells showed significantly decreased PIGY expression (6-10% of controls). Patient fibroblasts were not available for study of GPI-anchored proteins, but granulocytes showed normal CD16 surface expression (see 146740), indicating that PIGY levels in some tissues are sufficient for normal GPI synthesis. These findings were consistent with the less severe phenotype in these patients compared to other patients (see 610662.0001). Alkaline phosphatase levels in the Pakistani sibs were normal. </p>
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 2/16/2016.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ilkovski, B., Pagnamenta, A. T., O'Grady, G. L., Kinoshita, T., Howard, M. F., Lek, M., Thomas, B., Turner, A., Christodoulou, J., Sillence, D., Knight, S. J. L., and 13 others.
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<strong>Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.</strong>
|
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Hum. Molec. Genet. 24: 6146-6159, 2015.
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[PubMed: 26293662]
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[Full Text: https://doi.org/10.1093/hmg/ddv331]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Murakami, Y., Siripanyaphinyo, U., Hong, Y., Tashima, Y., Maeda, Y., Kinoshita, T.
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<strong>The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.</strong>
|
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Molec. Biol. Cell 16: 5236-5246, 2005.
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[PubMed: 16162815]
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[Full Text: https://doi.org/10.1091/mbc.e05-08-0743]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div class="row">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Matthew B. Gross - updated : 01/10/2018<br>Matthew B. Gross - updated : 2/16/2016<br>Cassandra L. Kniffin - updated : 2/11/2016<br>Patricia A. Hartz - updated : 4/29/2014
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Laura L. Baxter : 12/19/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 12/19/2022<br>carol : 07/13/2022<br>mgross : 01/10/2018<br>carol : 01/04/2018<br>mgross : 04/25/2016<br>mgross : 2/16/2016<br>carol : 2/12/2016<br>ckniffin : 2/11/2016<br>mgross : 5/7/2014<br>mcolton : 4/29/2014<br>alopez : 12/20/2006
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