3473 lines
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Entry
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- *300019 - HOST CELL FACTOR C1; HCFC1
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- OMIM
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<div class="container hidden-print">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*300019</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/300019">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div 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=ENSG00000172534;t=ENST00000310441" 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=3054" 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=300019" 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=ENSG00000172534;t=ENST00000310441" 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_001410705,NM_005334,XM_006724816,XM_011531147,XM_011531148,XM_017029471,XM_047442051,XM_047442052,XM_047442053,XM_047442054,XM_047442055,XM_047442056,XM_047442057,XM_047442058,XM_047442059,XM_047442060,XM_047442061" 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_005334" 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=300019" 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=02061&isoform_id=02061_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/HCFC1" 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/558349,39795217,98986457,116283609,116283695,119593173,119593174,119593175,160332311,578838843,768039909,768039914,1034674158,1233272221,2217391871,2217391873,2217391875,2217391877,2217391881,2217391883,2217391887,2217391889,2217391892,2217391894,2217391915,2286439383,2462629216,2462629218,2462629220,2462629222,2462629224,2462629226,2462629228,2462629230,2462629232,2462629234,2462629236,2462629238,2462629240,2462629242,2462629244" 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/P51610" 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=3054" 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=ENSG00000172534;t=ENST00000310441" 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=HCFC1" 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=HCFC1" 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+3054" 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/HCFC1" 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:3054" 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/3054" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000310441.12&hgg_start=153947557&hgg_end=153971818&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4839" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/hcfc1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300019[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=300019[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/HCFC1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000172534" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=HCFC1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=HCFC1" 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=HCFC1" 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="http://www.LOVD.nl/HCFC1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HCFC1&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/PA29215" 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:4839" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0039904.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:105942" 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/HCFC1#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:105942" 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/3054/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=3054" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00001827;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-2411" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
|
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:300019" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3054" 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=HCFC1&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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300019
|
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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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HOST CELL FACTOR C1; HCFC1
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
HCF1<br />
|
|
VP16 ACCESSORY PROTEIN
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HCFC1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HCFC1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/X/847?start=-3&limit=10&highlight=847">Xq28</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:153947557-153971818&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'})">X:153,947,557-153,971,818</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/847?start=-3&limit=10&highlight=847">
|
|
Xq28
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Methylmalonic aciduria and homocysteinemia, cblX type
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<p>The HCFC1 gene encodes a transcription factor that forms a complex with THAP11 (<a href="/entry/609119">609119</a>) to regulate the transcription of MMACHC (<a href="/entry/609831">609831</a>), an enzyme involved in cobalamin metabolism. The HCFC1/THAP11 complex is also involved in the regulation of ribosome biogenesis during embryonic development (summary by <a href="#6" class="mim-tip-reference" title="Huang, L., Jolly, L. A., Willis-Owen, S., Gardner, A., Kumar, R., Douglas, E., Shoubridge, C., Wieczorek, D., Tzschach, A., Cohen, M., Hackett, A., Field, M., Froyen, G., Hu, H., Haas, S. A., Ropers, H.-H., Kalscheuer, V. M., Corbett, M. A., Gecz, J. <strong>A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.</strong> Am. J. Hum. Genet. 91: 694-702, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23000143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23000143</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23000143[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.08.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23000143">Huang et al., 2012</a>; <a href="#1" class="mim-tip-reference" title="Chern, T., Achilleos, A., Tong, X., Hill, M. C., Saltzman, A. B., Reineke, L. C., Chaudhury, A., Dasgupta, S. K., Redhead, Y., Watkins, D., Neilson, J. R., Thiagarajan, P., Green, J. B. A., Malovannaya, A., Martin, J. F., Rosenblatt, D. S., Poche, R. A. <strong>Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.</strong> Nature Commun. 13: 134, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35013307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35013307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35013307[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41467-021-27759-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35013307">Chern et al., 2022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23000143+35013307" 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>From the G+C-rich isochore located in Xq28 between DXS52 and the factor VIII gene (F8; <a href="/entry/300841">300841</a>), <a href="#4" class="mim-tip-reference" title="Frattini, A., Faranda, S., Redolfi, E., Zucchi, I., Villa, A., Patrosso, M. C., Strina, D., Susani, L., Vezzoni, P. <strong>Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.</strong> Genomics 23: 30-35, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7829097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7829097</a>] [<a href="https://doi.org/10.1006/geno.1994.1455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7829097">Frattini et al. (1994)</a> isolated a transcript mapping about 50 kb telomeric from the AVPR2 gene (<a href="/entry/300538">300538</a>) in a 180-kb contig containing the L1CAM gene at its centromeric end. The sequence from a human fetal brain library was found to be identical to that of HCF1 (host cell factor C1) that activates herpes simplex virus VP16 transactivator protein for association with the octamer motif-binding protein Oct1 (<a href="/entry/164175">164175</a>), identified by <a href="#11" class="mim-tip-reference" title="Wilson, A. C., LaMarco, K., Peterson, M. G., Herr, W. <strong>The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein.</strong> Cell 74: 115-125, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8392914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8392914</a>] [<a href="https://doi.org/10.1016/0092-8674(93)90299-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8392914">Wilson et al. (1993)</a>. The gene was expressed in a ubiquitous pattern, and a larger transcript of approximately 10 kb was present in all the tissues tested, whereas an alternatively spliced RNA of approximately 8.0 kb was present in muscle and heart tissues. Other findings suggested that alternative mRNA processing can partly contribute to the diversity of the polypeptide HCF1 family in a subset of tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8392914+7829097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Frattini, A., Chatterjee, A., Faranda, S., Sacco, M. G., Villa, A., Herman, G. E., Vezzoni, P. <strong>The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.</strong> Genomics 32: 277-280, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8833156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8833156</a>] [<a href="https://doi.org/10.1006/geno.1996.0116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8833156">Frattini et al. (1996)</a> demonstrated that the mouse Hcfc1 protein shows a very high degree of conservation with 19-amino acid motifs located in the middle of the human protein. This suggests an important function for these repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8833156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#4" class="mim-tip-reference" title="Frattini, A., Faranda, S., Redolfi, E., Zucchi, I., Villa, A., Patrosso, M. C., Strina, D., Susani, L., Vezzoni, P. <strong>Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.</strong> Genomics 23: 30-35, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7829097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7829097</a>] [<a href="https://doi.org/10.1006/geno.1994.1455" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7829097">Frattini et al. (1994)</a> demonstrated that the HCFC1 transcript is assembled from 26 exons spread over approximately 24 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7829097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization and somatic cell hybrid analysis, <a href="#12" class="mim-tip-reference" title="Wilson, A. C., Parrish, J. E., Massa, H. F., Nelson, D. L., Trask, B. J., Herr, W. <strong>The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney.</strong> Genomics 25: 462-468, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789979</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80046-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7789979">Wilson et al. (1995)</a> mapped the HCFC1 gene to Xq28. YAC and cosmid mapping localized the HCFC1 gene within 100 kb distal of the V2R gene and adjacent to the renin-binding protein gene (<a href="/entry/312420">312420</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7789979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Faranda, S., Frattini, A., Vezzoni, P. <strong>The human genes encoding renin-binding protein and host cell factor are closely linked in Xq28 and transcribed in the same direction.</strong> Gene 155: 237-239, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7721097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7721097</a>] [<a href="https://doi.org/10.1016/0378-1119(94)00810-f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7721097">Faranda et al. (1995)</a> found that the 3-prime end of HCFC1 lies 2,763-bp upstream from the 3-prime end of the renin-binding protein gene (<a href="/entry/312420">312420</a>). Thus both genes are transcribed in the same direction, from the telomere to the centromere. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7721097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Frattini, A., Chatterjee, A., Faranda, S., Sacco, M. G., Villa, A., Herman, G. E., Vezzoni, P. <strong>The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.</strong> Genomics 32: 277-280, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8833156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8833156</a>] [<a href="https://doi.org/10.1006/geno.1996.0116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8833156">Frattini et al. (1996)</a> found that the mouse gene maps to a region syntenic to Xq28 and, as in human, is in close proximity to the renin-binding protein gene, in a 100-kb region also including L1cam and vasopressin receptor type 2 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8833156" 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="#12" class="mim-tip-reference" title="Wilson, A. C., Parrish, J. E., Massa, H. F., Nelson, D. L., Trask, B. J., Herr, W. <strong>The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney.</strong> Genomics 25: 462-468, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789979</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80046-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7789979">Wilson et al. (1995)</a> found that HCF transcripts and protein are most abundant in fetal and placental tissues and cell lines, suggesting a role in cell proliferation. In adults, HCF protein is abundant in the kidney, but not in the brain, a site of latent herpes simplex virus (HSV) infection and a site where HCF levels may influence progression of HSV infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7789979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Zoppe, M., Frattini, A., Faranda, S., Vezzoni, P. <strong>The complete sequence of the host cell factor 1 (HCFC1) gene and its promoter: a role for YY1 transcription factor in the regulation of its expression.</strong> Genomics 34: 85-91, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661027</a>] [<a href="https://doi.org/10.1006/geno.1996.0244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661027">Zoppe et al. (1996)</a> reported the complete sequence of the HCFC1 gene, including 2 kb of the 5-prime flanking region and 5.9 kb of the first intron. In addition to the detection of many putative binding sites for known DNA binding proteins, a highly conserved 17-bp sequence was found to be present 6 times at regular intervals in the 5-prime region of the gene. This motif is capable of binding the transcription factor Yin/Yang 1 (YY1; <a href="/entry/600013">600013</a>) as well as another unidentified factor, suggesting that HCFC1 expression is regulated by the interaction of these factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a yeast interaction screen, <a href="#9" class="mim-tip-reference" title="Mahajan, S. S., Little, M. M., Vazquez, R., Wilson, A. C. <strong>Interaction of HCF-1 with a cellular nuclear export factor.</strong> J. Biol. Chem. 277: 44292-44299, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12235138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12235138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12235138[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/10.1074/jbc.M205440200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12235138">Mahajan et al. (2002)</a> showed that human HPIP (HCFC1R1; <a href="/entry/618818">618818</a>) interacted with the beta-propeller domain of HCF1. HPIP shuttled between the nucleus and cytoplasm in a CRM1 (<a href="/entry/602559">602559</a>)-dependent manner, and interaction of HCF1 with HPIP allowed HCF1 to be exported from the nucleus to the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12235138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using chromatin immunoprecipitation, PCR, coimmunoprecipitation, and reporter analyses, <a href="#8" class="mim-tip-reference" title="Liang, Y., Vogel, J. L., Narayanan, A., Peng, H., Kristie, T. M. <strong>Inhibition of the histone demethylase LSD1 blocks alpha-herpesvirus lytic replication and reactivation from latency.</strong> Nature Med. 15: 1312-1317, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19855399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19855399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19855399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm.2051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19855399">Liang et al. (2009)</a> found that infection by the alpha-herpesviruses, HSV and varicella zoster virus (VZV), resulted in rapid accumulation of chromatin bearing repressive histone H3 lys9 (H3K9) methylation. Expression of viral immediate early (IE) genes required HCF1 to recruit LSD1 (KDM1A; <a href="/entry/609132">609132</a>) to viral immediate early promoters. Depletion of LSD1 or dose-dependent inhibition of LSD1 with monoamine oxidase inhibitors (MAOIs) resulted in accumulation of repressive chromatin and a block to viral gene expression. HCF1, together with SET1 (SETD1A; <a href="/entry/611052">611052</a>) and MLL1 (<a href="/entry/159555">159555</a>), coordinated modulation of repressive H3K9 methylation levels with addition of activating H3K4 trimethylation marks. <a href="#8" class="mim-tip-reference" title="Liang, Y., Vogel, J. L., Narayanan, A., Peng, H., Kristie, T. M. <strong>Inhibition of the histone demethylase LSD1 blocks alpha-herpesvirus lytic replication and reactivation from latency.</strong> Nature Med. 15: 1312-1317, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19855399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19855399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19855399[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm.2051" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19855399">Liang et al. (2009)</a> concluded that LSD1 prevents accumulation of H3K9 methylation and allows productive infection by both alpha-herpesviruses. They proposed that the dependence of viral pathogens on the host-cell chromatin machinery highlights a potential therapeutic intervention, and that targeting LSD1 with widely used MAOIs may prevent viral latency and reactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19855399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Huang, L., Jolly, L. A., Willis-Owen, S., Gardner, A., Kumar, R., Douglas, E., Shoubridge, C., Wieczorek, D., Tzschach, A., Cohen, M., Hackett, A., Field, M., Froyen, G., Hu, H., Haas, S. A., Ropers, H.-H., Kalscheuer, V. M., Corbett, M. A., Gecz, J. <strong>A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.</strong> Am. J. Hum. Genet. 91: 694-702, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23000143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23000143</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23000143[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.08.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23000143">Huang et al. (2012)</a> found high expression of the Hcfc1 gene during murine brain development, consistent with a role in proliferative cells. Expression decreased during embryogenesis, but was still present during postnatal development, suggesting a role in postmitotic cells as well. Overexpression of the Hcfc1 gene in cultured murine neuronal stem cells resulted in a significant reduction of cells in the proliferative stage, promotion of cell cycle exit, and increased production of astrocytes. Overexpression of the Hcfc1 gene in embryonic hippocampal neurons caused a reduction in neurite growth, a reduction in the degree of neurite arborization, and increased neuronal death. The findings suggested that HCFC1 is a potent regulator of embryonic neural development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23000143" 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>HCFC1, a transcriptional coregulator of human cell cycle progression, undergoes proteolytic maturation in which any of 6 repeated sequences is cleaved by the nutrient-responsive glycosyltransferase, O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT; <a href="/entry/300255">300255</a>). <a href="#7" class="mim-tip-reference" title="Lazarus, M. B., Jiang, J., Kapuria, V., Bhuiyan, T., Janetzko, J., Zandberg, W. F., Vocadlo, D. J., Herr, W., Walker, S. <strong>HCF-1 is cleaved in the active site of O-GlcNAc transferase.</strong> Science 342: 1235-1239, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24311690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24311690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24311690[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/10.1126/science.1243990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24311690">Lazarus et al. (2013)</a> reported that the tetratricopeptide repeat domain of OGT binds the carboxyl terminal portion of an HCFC1 proteolytic repeat such that the cleavage region lies in the glycosyltransferase active site above uridine diphosphate-GlcNAc. The conformation is similar to that of a glycosylation-competent peptide substrate. Cleavage occurs between cysteine and glutamate residues and results in a pyroglutamate product. Conversion of the cleavage site glutamate into serine converts an HCFC1 proteolytic repeat into a glycosylation substrate. <a href="#7" class="mim-tip-reference" title="Lazarus, M. B., Jiang, J., Kapuria, V., Bhuiyan, T., Janetzko, J., Zandberg, W. F., Vocadlo, D. J., Herr, W., Walker, S. <strong>HCF-1 is cleaved in the active site of O-GlcNAc transferase.</strong> Science 342: 1235-1239, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24311690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24311690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24311690[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/10.1126/science.1243990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24311690">Lazarus et al. (2013)</a> concluded that protein glycosylation and HCFC1 cleavage occur in the same active site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24311690" 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 affected members of a family with X-linked intellectual developmental disorder-3 (XLID3; <a href="/entry/309541">309541</a>) originally reported by <a href="#5" class="mim-tip-reference" title="Gedeon, A., Kerr, B., Mulley, J., Turner, G. <strong>Localisation of the MRX3 gene for non-specific X linked mental retardation.</strong> J. Med. Genet. 28: 372-377, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1870093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1870093</a>] [<a href="https://doi.org/10.1136/jmg.28.6.372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1870093">Gedeon et al. (1991)</a>, <a href="#6" class="mim-tip-reference" title="Huang, L., Jolly, L. A., Willis-Owen, S., Gardner, A., Kumar, R., Douglas, E., Shoubridge, C., Wieczorek, D., Tzschach, A., Cohen, M., Hackett, A., Field, M., Froyen, G., Hu, H., Haas, S. A., Ropers, H.-H., Kalscheuer, V. M., Corbett, M. A., Gecz, J. <strong>A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.</strong> Am. J. Hum. Genet. 91: 694-702, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23000143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23000143</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23000143[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.08.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23000143">Huang et al. (2012)</a> identified a chrX:152,890,455A-G (NCBI36) transition in the 5-prime untranslated region of the HCFC1 gene (<a href="#0001">300019.0001</a>) that disrupted a binding site for the transcription factor YY1. HCFC1 mRNA was 1.6-fold higher in patient lymphoblastoid cells compared to controls. Microarray data of gene expression showed deregulation of multiple genes involved in mitochondrial function or biogenesis in patients with MRX3 compared to controls. Exome sequencing of additional probands from families with X-linked mental retardation found a missense mutation in the HCFC1 gene (S225N; <a href="#0002">300019.0002</a>) in 1 proband that segregated with the disorder in that family. Two additional variants in the HCFC1 gene were identified in 2 more probands, but each proband also carried a mutation in another gene (ZMYM3, <a href="/entry/300061">300061</a> and MED13, <a href="/entry/300118">300118</a>, respectively), so the contribution of the HCFC1 change to the phenotype could not adequately be determined. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1870093+23000143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 14 unrelated males with X-linked intellectual developmental disorder with a cobalamin disorder identified through laboratory studies (MHACX; <a href="/entry/309541">309541</a>), <a href="#13" class="mim-tip-reference" title="Yu, H.-C., Sloan, J. L., Scharer, G., Brebner, A., Quintana, A. M., Achilly, N. P., Manoli, I., Coughlin, C. R., II, Geiger, E. A., Schneck, U., Watkins, D., Suormala, T., Van Hove, J. L. K., Fowler, B., Baumgartner, M. R., Rosenblatt, D. S., Venditti, C. P., Shaikh, T. H. <strong>An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.</strong> Am. J. Hum. Genet. 93: 506-514, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24011988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24011988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24011988[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.07.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24011988">Yu et al. (2013)</a> identified 5 different hemizygous missense mutations in the HCFC1 gene (see, e.g., <a href="#0003">300019.0003</a>-<a href="#0005">300019.0005</a>). Nine of the patients carried the same mutation (A115V; <a href="#0003">300019.0003</a>). All mutations occurred at highly conserved residues in 2 of the 5 N-terminal kelch domains. The mutation in the first patient was found by exome sequencing, and the subsequent mutations were found by HCFC1 screening of 17 males with a similar disorder and laboratory findings. All patients had severely delayed psychomotor development apparent in infancy and associated with failure to thrive, mental retardation, and intractable epilepsy. Many had microcephaly and/or choreoathetosis. Complementation studies suggested cblC (<a href="/entry/277400">277400</a>), but mutations were not found in the MMACHC gene (<a href="/entry/609831">609831</a>). Fibroblasts from 2 patients showed decreased mRNA and protein levels of MMACHC, whereas mRNA and protein levels of HCFC1 were normal. Knockdown of HCFC1 in HEK293 cells downregulated MMACHC. These finding suggested that mutations in HCFC1 inhibit its function in the transcriptional activation of MMACHC, and showed that perturbation of transcription can cause an inborn error of metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24011988" 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="#10" class="mim-tip-reference" title="Quintana, A. M., Yu, H.-C., Brebner, A., Pupavac, M., Geiger, E. A., Watson, A., Castro, V. L., Cheung, W., Chen, S.-H., Watkins, D., Pastinen, T., Skovby, F., Appel, B., Rosenblatt, D. S., Shaikh, T. H. <strong>Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.</strong> Hum. Molec. Genet. 26: 2838-2849, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28449119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28449119</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28449119[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/ddx157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28449119">Quintana et al. (2017)</a> found that morpholino knockdown of zebrafish hcfc1b resulted in increased numbers of SOX2 (<a href="/entry/184429">184429</a>)-positive neural progenitor cells in the developing brain, suggesting that the gene regulates neural precursor differentiation in the developing brain. Overexpression of HCFC1 mRNA also increased the number of SOX2-positive cells in certain brain regions. The results indicated that changes in the level of HCFC1 expression during brain development can alter the fate of neural precursors. Similar findings were observed in thap11-null zebrafish. RNA-seq analysis of fibroblasts from a patient with a F80L THAP11 mutation (<a href="/entry/609119#0001">609119.0001</a>) and from patients with HCFC1 mutations showed downregulation of several genes, including TMOD2 (<a href="/entry/602928">602928</a>) and MMACHC, the latter of which most likely caused the aberrant cobalamin metabolism. The transcriptome clustered in the same clade in both. The findings indicated that THAP11 and HCFC1 coregulate an overlapping set of genes which play a role in the phenotype of both MAHCL (<a href="/entry/620940">620940</a>) and MAHCX. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28449119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Chern, T., Achilleos, A., Tong, X., Hill, M. C., Saltzman, A. B., Reineke, L. C., Chaudhury, A., Dasgupta, S. K., Redhead, Y., Watkins, D., Neilson, J. R., Thiagarajan, P., Green, J. B. A., Malovannaya, A., Martin, J. F., Rosenblatt, D. S., Poche, R. A. <strong>Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.</strong> Nature Commun. 13: 134, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35013307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35013307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35013307[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/s41467-021-27759-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35013307">Chern et al. (2022)</a> found that about half of hemizygous male mice carrying the HCFC1 mutation A115V (<a href="#0003">300019.0003</a>) died postnatally prior to weaning. Mutant mice exhibited combined methylmalonic aciduria and homocystinuria, as well as craniofacial defects, thinning of the corpus callosum, and ventricular myocardial defects. Mutant HCFC1 was still able to bind THAP11, but the complex was not fully functional. There was a dramatic reduction in Mmachc RNA and protein expression associated with decreased cobalamin coenzymes MeCbl and AdoCbl and decreased functional activity of MTR (<a href="/entry/156570">156570</a>) and MUT (<a href="/entry/609058">609058</a>). Further in vitro studies suggested dysregulation of genes involved in ribosome biogenesis and abnormal protein translation; the authors concluded that HCFC1 mutations cause a ribosomopathy. Similar results were found in mutant mice homozygous for a F80L mutation in the THAP11 gene (<a href="/entry/609119#0001">609119.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35013307" 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 href="https://www.ncbi.nlm.nih.gov/clinvar?term=300019[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3</strong>
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HCFC1, A-G, 5-PRIME UTR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs398122908 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs398122908;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=rs398122908" 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=rs398122908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032896" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032896" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032896</a>
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<p>In affected members of a family with X-linked intellectual developmental disorder-3 (XLID3; <a href="/entry/309541">309541</a>) originally reported by <a href="#5" class="mim-tip-reference" title="Gedeon, A., Kerr, B., Mulley, J., Turner, G. <strong>Localisation of the MRX3 gene for non-specific X linked mental retardation.</strong> J. Med. Genet. 28: 372-377, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1870093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1870093</a>] [<a href="https://doi.org/10.1136/jmg.28.6.372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1870093">Gedeon et al. (1991)</a>, <a href="#6" class="mim-tip-reference" title="Huang, L., Jolly, L. A., Willis-Owen, S., Gardner, A., Kumar, R., Douglas, E., Shoubridge, C., Wieczorek, D., Tzschach, A., Cohen, M., Hackett, A., Field, M., Froyen, G., Hu, H., Haas, S. A., Ropers, H.-H., Kalscheuer, V. M., Corbett, M. A., Gecz, J. <strong>A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.</strong> Am. J. Hum. Genet. 91: 694-702, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23000143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23000143</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23000143[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.08.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23000143">Huang et al. (2012)</a> identified an A-to-G transition in the 5-prime untranslated region of the HCFC1 gene (chrX.152,890,455A-G, NCBI36) within the S2 binding site for the transcription factor YY1 (<a href="/entry/600013">600013</a>). HCFC1 mRNA was 1.6-fold higher in patient lymphoblastoid cells compared to controls, and the A-G variant was shown to completely abolish YY1 binding in HEK293 T cells. Overexpression of the Hcfc1 gene in cultured murine neuronal stem cells resulted in a significant reduction of cells in the proliferative stage, promotion of cell-cycle exit, and increased production of astrocytes. Overexpression of the Hcfc1 gene in embryonic hippocampal neurons caused a reduction in neurite growth, a reduction in the degree of neurite arborization, and increased neuronal death. The findings suggested that HCFC1 is a potent regulator of embryonic neural development. Biochemical studies were not reported in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1870093+23000143" 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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<span class="mim-font">
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<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3</strong>
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HCFC1, SER225ASN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs318240758 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs318240758;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=rs318240758" 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=rs318240758" 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=RCV000032897 OR RCV000059786" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032897, RCV000059786" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032897...</a>
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</span>
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<span class="mim-text-font">
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<p>By exome sequencing of a proband from a family with intellectual developmental disorder (XLID3; <a href="/entry/309541">309541</a>), <a href="#6" class="mim-tip-reference" title="Huang, L., Jolly, L. A., Willis-Owen, S., Gardner, A., Kumar, R., Douglas, E., Shoubridge, C., Wieczorek, D., Tzschach, A., Cohen, M., Hackett, A., Field, M., Froyen, G., Hu, H., Haas, S. A., Ropers, H.-H., Kalscheuer, V. M., Corbett, M. A., Gecz, J. <strong>A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.</strong> Am. J. Hum. Genet. 91: 694-702, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23000143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23000143</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23000143[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.08.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23000143">Huang et al. (2012)</a> identified a c.674G-A transition in the HCFC1 gene, resulting in a ser225-to-asn (S225N) substitution at a highly conserved residue in one of the Kelch domains. The mutation segregated with the disorder in 3 additional affected male family members. Biochemical studies were not reported in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23000143" 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="0003" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0003 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE</strong>
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<span class="mim-text-font">
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HCFC1, ALA115VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397515485 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515485;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397515485?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397515485" 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=rs397515485" 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=RCV000057506 OR RCV002513743" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000057506, RCV002513743" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000057506...</a>
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<span class="mim-text-font">
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<p>In 9 unrelated males with methylmalonic aciduria and homocystinuria, cblX type (MAHCX; <a href="/entry/309541">309541</a>), <a href="#13" class="mim-tip-reference" title="Yu, H.-C., Sloan, J. L., Scharer, G., Brebner, A., Quintana, A. M., Achilly, N. P., Manoli, I., Coughlin, C. R., II, Geiger, E. A., Schneck, U., Watkins, D., Suormala, T., Van Hove, J. L. K., Fowler, B., Baumgartner, M. R., Rosenblatt, D. S., Venditti, C. P., Shaikh, T. H. <strong>An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.</strong> Am. J. Hum. Genet. 93: 506-514, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24011988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24011988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24011988[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.07.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24011988">Yu et al. (2013)</a> identified a hemizygous c.344C-T transition in exon 3 of the HCFC1 gene, resulting in an ala115-to-val (A115V) substitution at a highly conserved residue in the second kelch motif. The mutation in the first patient was found by exome sequencing and confirmed by Sanger sequencing; the mutation was present in his unaffected mother. The variant was not found in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes Project databases. Sanger sequencing did not find the variant in 50 control individuals of European descent, but it was found in 1 female individual among 50 control individuals of African American descent. The patients had severely delayed psychomotor development apparent in infancy and intractable seizures associated in most cases with increased plasma homocysteine and increased serum methylmalonic acid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24011988" 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="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE</strong>
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HCFC1, ALA73VAL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515486 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515486;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=rs397515486" 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=rs397515486" 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=RCV000057507 OR RCV000224133 OR RCV000224484 OR RCV001199845 OR RCV002513744" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000057507, RCV000224133, RCV000224484, RCV001199845, RCV002513744" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000057507...</a>
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<span class="mim-text-font">
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<p>In 2 unrelated boys with methylmalonic aciduria and homocystinuria, cblX type (MAHCX; <a href="/entry/309541">309541</a>), <a href="#13" class="mim-tip-reference" title="Yu, H.-C., Sloan, J. L., Scharer, G., Brebner, A., Quintana, A. M., Achilly, N. P., Manoli, I., Coughlin, C. R., II, Geiger, E. A., Schneck, U., Watkins, D., Suormala, T., Van Hove, J. L. K., Fowler, B., Baumgartner, M. R., Rosenblatt, D. S., Venditti, C. P., Shaikh, T. H. <strong>An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.</strong> Am. J. Hum. Genet. 93: 506-514, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24011988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24011988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24011988[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.07.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24011988">Yu et al. (2013)</a> identified a hemizygous c.218C-T transition in the HCFC1 gene, resulting in an ala73-to-val (A73V) substitution at a highly conserved residue in the first kelch motif. The patients had severely delayed psychomotor development apparent in infancy and intractable seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24011988" 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="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397515487 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397515487;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=rs397515487" 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=rs397515487" 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=RCV000057508 OR RCV002513745" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000057508, RCV002513745" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000057508...</a>
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<p>In a boy with methylmalonic aciduria and homocystinuria, cblX type (MAHCX; <a href="/entry/309541">309541</a>), <a href="#13" class="mim-tip-reference" title="Yu, H.-C., Sloan, J. L., Scharer, G., Brebner, A., Quintana, A. M., Achilly, N. P., Manoli, I., Coughlin, C. R., II, Geiger, E. A., Schneck, U., Watkins, D., Suormala, T., Van Hove, J. L. K., Fowler, B., Baumgartner, M. R., Rosenblatt, D. S., Venditti, C. P., Shaikh, T. H. <strong>An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.</strong> Am. J. Hum. Genet. 93: 506-514, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24011988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24011988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24011988[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2013.07.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24011988">Yu et al. (2013)</a> identified a hemizygous c.217G-A transition in the HCFC1 gene, resulting in an ala73-to-thr (A73T) substitution at a highly conserved residue in the first kelch motif. The patient had severely delayed psychomotor development apparent in infancy, intractable seizures, and failure to thrive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24011988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
|
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</span>
|
|
</h4>
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|
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Chern2022" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chern, T., Achilleos, A., Tong, X., Hill, M. C., Saltzman, A. B., Reineke, L. C., Chaudhury, A., Dasgupta, S. K., Redhead, Y., Watkins, D., Neilson, J. R., Thiagarajan, P., Green, J. B. A., Malovannaya, A., Martin, J. F., Rosenblatt, D. S., Poche, R. A.
|
|
<strong>Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.</strong>
|
|
Nature Commun. 13: 134, 2022.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35013307/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35013307</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35013307[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=35013307" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/s41467-021-27759-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Faranda1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Faranda, S., Frattini, A., Vezzoni, P.
|
|
<strong>The human genes encoding renin-binding protein and host cell factor are closely linked in Xq28 and transcribed in the same direction.</strong>
|
|
Gene 155: 237-239, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7721097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7721097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7721097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0378-1119(94)00810-f" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Frattini1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Frattini, A., Chatterjee, A., Faranda, S., Sacco, M. G., Villa, A., Herman, G. E., Vezzoni, P.
|
|
<strong>The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.</strong>
|
|
Genomics 32: 277-280, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8833156/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8833156</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8833156" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1996.0116" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Frattini1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Frattini, A., Faranda, S., Redolfi, E., Zucchi, I., Villa, A., Patrosso, M. C., Strina, D., Susani, L., Vezzoni, P.
|
|
<strong>Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.</strong>
|
|
Genomics 23: 30-35, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7829097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7829097</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7829097" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1994.1455" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Gedeon1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gedeon, A., Kerr, B., Mulley, J., Turner, G.
|
|
<strong>Localisation of the MRX3 gene for non-specific X linked mental retardation.</strong>
|
|
J. Med. Genet. 28: 372-377, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1870093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1870093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1870093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.28.6.372" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Huang2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Huang, L., Jolly, L. A., Willis-Owen, S., Gardner, A., Kumar, R., Douglas, E., Shoubridge, C., Wieczorek, D., Tzschach, A., Cohen, M., Hackett, A., Field, M., Froyen, G., Hu, H., Haas, S. A., Ropers, H.-H., Kalscheuer, V. M., Corbett, M. A., Gecz, J.
|
|
<strong>A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.</strong>
|
|
Am. J. Hum. Genet. 91: 694-702, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23000143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23000143</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23000143[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=23000143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2012.08.011" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Lazarus2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lazarus, M. B., Jiang, J., Kapuria, V., Bhuiyan, T., Janetzko, J., Zandberg, W. F., Vocadlo, D. J., Herr, W., Walker, S.
|
|
<strong>HCF-1 is cleaved in the active site of O-GlcNAc transferase.</strong>
|
|
Science 342: 1235-1239, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24311690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24311690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24311690[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=24311690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.1243990" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Liang2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Liang, Y., Vogel, J. L., Narayanan, A., Peng, H., Kristie, T. M.
|
|
<strong>Inhibition of the histone demethylase LSD1 blocks alpha-herpesvirus lytic replication and reactivation from latency.</strong>
|
|
Nature Med. 15: 1312-1317, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19855399/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19855399</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19855399[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=19855399" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nm.2051" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Mahajan2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mahajan, S. S., Little, M. M., Vazquez, R., Wilson, A. C.
|
|
<strong>Interaction of HCF-1 with a cellular nuclear export factor.</strong>
|
|
J. Biol. Chem. 277: 44292-44299, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12235138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12235138</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12235138[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=12235138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.M205440200" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Quintana2017" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Quintana, A. M., Yu, H.-C., Brebner, A., Pupavac, M., Geiger, E. A., Watson, A., Castro, V. L., Cheung, W., Chen, S.-H., Watkins, D., Pastinen, T., Skovby, F., Appel, B., Rosenblatt, D. S., Shaikh, T. H.
|
|
<strong>Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.</strong>
|
|
Hum. Molec. Genet. 26: 2838-2849, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28449119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28449119</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28449119[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=28449119" 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/ddx157" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Wilson1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wilson, A. C., LaMarco, K., Peterson, M. G., Herr, W.
|
|
<strong>The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein.</strong>
|
|
Cell 74: 115-125, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8392914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8392914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8392914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1016/0092-8674(93)90299-6" target="_blank">Full Text</a>]
|
|
|
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|
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</p>
|
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|
|
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|
|
|
|
<li>
|
|
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|
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<a id="Wilson1995" class="mim-anchor"></a>
|
|
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|
|
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|
|
Wilson, A. C., Parrish, J. E., Massa, H. F., Nelson, D. L., Trask, B. J., Herr, W.
|
|
<strong>The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney.</strong>
|
|
Genomics 25: 462-468, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7789979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7789979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7789979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0888-7543(95)80046-o" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
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|
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<a id="Yu2013" class="mim-anchor"></a>
|
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|
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|
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Yu, H.-C., Sloan, J. L., Scharer, G., Brebner, A., Quintana, A. M., Achilly, N. P., Manoli, I., Coughlin, C. R., II, Geiger, E. A., Schneck, U., Watkins, D., Suormala, T., Van Hove, J. L. K., Fowler, B., Baumgartner, M. R., Rosenblatt, D. S., Venditti, C. P., Shaikh, T. H.
|
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<strong>An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.</strong>
|
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Am. J. Hum. Genet. 93: 506-514, 2013.
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|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24011988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24011988</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24011988[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=24011988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.07.022" target="_blank">Full Text</a>]
|
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|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Zoppe1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
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Zoppe, M., Frattini, A., Faranda, S., Vezzoni, P.
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<strong>The complete sequence of the host cell factor 1 (HCFC1) gene and its promoter: a role for YY1 transcription factor in the regulation of its expression.</strong>
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Genomics 34: 85-91, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661027" 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/10.1006/geno.1996.0244" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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Cassandra L. Kniffin - updated : 09/12/2024
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Bao Lige - updated : 03/18/2020<br>Ada Hamosh - updated : 01/30/2014<br>Cassandra L. Kniffin - updated : 10/16/2013<br>Cassandra L. Kniffin - updated : 10/17/2012<br>Paul J. Converse - updated : 12/2/2009
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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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Victor A. McKusick : 2/4/1996
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alopez : 09/17/2024
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ckniffin : 09/17/2024<br>alopez : 09/16/2024<br>ckniffin : 09/12/2024<br>carol : 12/22/2021<br>carol : 11/18/2021<br>mgross : 03/19/2020<br>mgross : 03/18/2020<br>alopez : 01/30/2014<br>carol : 10/25/2013<br>carol : 10/17/2013<br>carol : 10/17/2013<br>ckniffin : 10/16/2013<br>terry : 10/19/2012<br>carol : 10/18/2012<br>ckniffin : 10/17/2012<br>carol : 4/7/2011<br>mgross : 4/20/2010<br>terry : 4/20/2010<br>mgross : 12/7/2009<br>terry : 12/2/2009<br>carol : 1/26/2009<br>ckniffin : 8/3/2005<br>carol : 6/25/2003<br>alopez : 7/21/1998<br>terry : 6/5/1996<br>terry : 6/3/1996<br>mark : 3/25/1996<br>terry : 3/14/1996<br>joanna : 2/4/1996
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<span class="mim-font">
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<strong>*</strong> 300019
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<h3>
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HOST CELL FACTOR C1; HCFC1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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HCF1<br />
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VP16 ACCESSORY PROTEIN
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: HCFC1</em></strong>
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Cytogenetic location: Xq28
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Genomic coordinates <span class="small">(GRCh38)</span> : X:153,947,557-153,971,818 </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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Xq28
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<span class="mim-font">
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Methylmalonic aciduria and homocysteinemia, cblX type
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<span class="mim-font">
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309541
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X-linked recessive
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>The HCFC1 gene encodes a transcription factor that forms a complex with THAP11 (609119) to regulate the transcription of MMACHC (609831), an enzyme involved in cobalamin metabolism. The HCFC1/THAP11 complex is also involved in the regulation of ribosome biogenesis during embryonic development (summary by Huang et al., 2012; Chern et al., 2022). </p>
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>From the G+C-rich isochore located in Xq28 between DXS52 and the factor VIII gene (F8; 300841), Frattini et al. (1994) isolated a transcript mapping about 50 kb telomeric from the AVPR2 gene (300538) in a 180-kb contig containing the L1CAM gene at its centromeric end. The sequence from a human fetal brain library was found to be identical to that of HCF1 (host cell factor C1) that activates herpes simplex virus VP16 transactivator protein for association with the octamer motif-binding protein Oct1 (164175), identified by Wilson et al. (1993). The gene was expressed in a ubiquitous pattern, and a larger transcript of approximately 10 kb was present in all the tissues tested, whereas an alternatively spliced RNA of approximately 8.0 kb was present in muscle and heart tissues. Other findings suggested that alternative mRNA processing can partly contribute to the diversity of the polypeptide HCF1 family in a subset of tissues. </p><p>Frattini et al. (1996) demonstrated that the mouse Hcfc1 protein shows a very high degree of conservation with 19-amino acid motifs located in the middle of the human protein. This suggests an important function for these repeats. </p>
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Frattini et al. (1994) demonstrated that the HCFC1 transcript is assembled from 26 exons spread over approximately 24 kb. </p>
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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>By fluorescence in situ hybridization and somatic cell hybrid analysis, Wilson et al. (1995) mapped the HCFC1 gene to Xq28. YAC and cosmid mapping localized the HCFC1 gene within 100 kb distal of the V2R gene and adjacent to the renin-binding protein gene (312420). </p><p>Faranda et al. (1995) found that the 3-prime end of HCFC1 lies 2,763-bp upstream from the 3-prime end of the renin-binding protein gene (312420). Thus both genes are transcribed in the same direction, from the telomere to the centromere. </p><p>Frattini et al. (1996) found that the mouse gene maps to a region syntenic to Xq28 and, as in human, is in close proximity to the renin-binding protein gene, in a 100-kb region also including L1cam and vasopressin receptor type 2 genes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wilson et al. (1995) found that HCF transcripts and protein are most abundant in fetal and placental tissues and cell lines, suggesting a role in cell proliferation. In adults, HCF protein is abundant in the kidney, but not in the brain, a site of latent herpes simplex virus (HSV) infection and a site where HCF levels may influence progression of HSV infection. </p><p>Zoppe et al. (1996) reported the complete sequence of the HCFC1 gene, including 2 kb of the 5-prime flanking region and 5.9 kb of the first intron. In addition to the detection of many putative binding sites for known DNA binding proteins, a highly conserved 17-bp sequence was found to be present 6 times at regular intervals in the 5-prime region of the gene. This motif is capable of binding the transcription factor Yin/Yang 1 (YY1; 600013) as well as another unidentified factor, suggesting that HCFC1 expression is regulated by the interaction of these factors. </p><p>Using a yeast interaction screen, Mahajan et al. (2002) showed that human HPIP (HCFC1R1; 618818) interacted with the beta-propeller domain of HCF1. HPIP shuttled between the nucleus and cytoplasm in a CRM1 (602559)-dependent manner, and interaction of HCF1 with HPIP allowed HCF1 to be exported from the nucleus to the cytoplasm. </p><p>Using chromatin immunoprecipitation, PCR, coimmunoprecipitation, and reporter analyses, Liang et al. (2009) found that infection by the alpha-herpesviruses, HSV and varicella zoster virus (VZV), resulted in rapid accumulation of chromatin bearing repressive histone H3 lys9 (H3K9) methylation. Expression of viral immediate early (IE) genes required HCF1 to recruit LSD1 (KDM1A; 609132) to viral immediate early promoters. Depletion of LSD1 or dose-dependent inhibition of LSD1 with monoamine oxidase inhibitors (MAOIs) resulted in accumulation of repressive chromatin and a block to viral gene expression. HCF1, together with SET1 (SETD1A; 611052) and MLL1 (159555), coordinated modulation of repressive H3K9 methylation levels with addition of activating H3K4 trimethylation marks. Liang et al. (2009) concluded that LSD1 prevents accumulation of H3K9 methylation and allows productive infection by both alpha-herpesviruses. They proposed that the dependence of viral pathogens on the host-cell chromatin machinery highlights a potential therapeutic intervention, and that targeting LSD1 with widely used MAOIs may prevent viral latency and reactivation. </p><p>Huang et al. (2012) found high expression of the Hcfc1 gene during murine brain development, consistent with a role in proliferative cells. Expression decreased during embryogenesis, but was still present during postnatal development, suggesting a role in postmitotic cells as well. Overexpression of the Hcfc1 gene in cultured murine neuronal stem cells resulted in a significant reduction of cells in the proliferative stage, promotion of cell cycle exit, and increased production of astrocytes. Overexpression of the Hcfc1 gene in embryonic hippocampal neurons caused a reduction in neurite growth, a reduction in the degree of neurite arborization, and increased neuronal death. The findings suggested that HCFC1 is a potent regulator of embryonic neural development. </p>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</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>HCFC1, a transcriptional coregulator of human cell cycle progression, undergoes proteolytic maturation in which any of 6 repeated sequences is cleaved by the nutrient-responsive glycosyltransferase, O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT; 300255). Lazarus et al. (2013) reported that the tetratricopeptide repeat domain of OGT binds the carboxyl terminal portion of an HCFC1 proteolytic repeat such that the cleavage region lies in the glycosyltransferase active site above uridine diphosphate-GlcNAc. The conformation is similar to that of a glycosylation-competent peptide substrate. Cleavage occurs between cysteine and glutamate residues and results in a pyroglutamate product. Conversion of the cleavage site glutamate into serine converts an HCFC1 proteolytic repeat into a glycosylation substrate. Lazarus et al. (2013) concluded that protein glycosylation and HCFC1 cleavage occur in the same active site. </p>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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>In affected members of a family with X-linked intellectual developmental disorder-3 (XLID3; 309541) originally reported by Gedeon et al. (1991), Huang et al. (2012) identified a chrX:152,890,455A-G (NCBI36) transition in the 5-prime untranslated region of the HCFC1 gene (300019.0001) that disrupted a binding site for the transcription factor YY1. HCFC1 mRNA was 1.6-fold higher in patient lymphoblastoid cells compared to controls. Microarray data of gene expression showed deregulation of multiple genes involved in mitochondrial function or biogenesis in patients with MRX3 compared to controls. Exome sequencing of additional probands from families with X-linked mental retardation found a missense mutation in the HCFC1 gene (S225N; 300019.0002) in 1 proband that segregated with the disorder in that family. Two additional variants in the HCFC1 gene were identified in 2 more probands, but each proband also carried a mutation in another gene (ZMYM3, 300061 and MED13, 300118, respectively), so the contribution of the HCFC1 change to the phenotype could not adequately be determined. </p><p>In 14 unrelated males with X-linked intellectual developmental disorder with a cobalamin disorder identified through laboratory studies (MHACX; 309541), Yu et al. (2013) identified 5 different hemizygous missense mutations in the HCFC1 gene (see, e.g., 300019.0003-300019.0005). Nine of the patients carried the same mutation (A115V; 300019.0003). All mutations occurred at highly conserved residues in 2 of the 5 N-terminal kelch domains. The mutation in the first patient was found by exome sequencing, and the subsequent mutations were found by HCFC1 screening of 17 males with a similar disorder and laboratory findings. All patients had severely delayed psychomotor development apparent in infancy and associated with failure to thrive, mental retardation, and intractable epilepsy. Many had microcephaly and/or choreoathetosis. Complementation studies suggested cblC (277400), but mutations were not found in the MMACHC gene (609831). Fibroblasts from 2 patients showed decreased mRNA and protein levels of MMACHC, whereas mRNA and protein levels of HCFC1 were normal. Knockdown of HCFC1 in HEK293 cells downregulated MMACHC. These finding suggested that mutations in HCFC1 inhibit its function in the transcriptional activation of MMACHC, and showed that perturbation of transcription can cause an inborn error of metabolism. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>Quintana et al. (2017) found that morpholino knockdown of zebrafish hcfc1b resulted in increased numbers of SOX2 (184429)-positive neural progenitor cells in the developing brain, suggesting that the gene regulates neural precursor differentiation in the developing brain. Overexpression of HCFC1 mRNA also increased the number of SOX2-positive cells in certain brain regions. The results indicated that changes in the level of HCFC1 expression during brain development can alter the fate of neural precursors. Similar findings were observed in thap11-null zebrafish. RNA-seq analysis of fibroblasts from a patient with a F80L THAP11 mutation (609119.0001) and from patients with HCFC1 mutations showed downregulation of several genes, including TMOD2 (602928) and MMACHC, the latter of which most likely caused the aberrant cobalamin metabolism. The transcriptome clustered in the same clade in both. The findings indicated that THAP11 and HCFC1 coregulate an overlapping set of genes which play a role in the phenotype of both MAHCL (620940) and MAHCX. </p><p>Chern et al. (2022) found that about half of hemizygous male mice carrying the HCFC1 mutation A115V (300019.0003) died postnatally prior to weaning. Mutant mice exhibited combined methylmalonic aciduria and homocystinuria, as well as craniofacial defects, thinning of the corpus callosum, and ventricular myocardial defects. Mutant HCFC1 was still able to bind THAP11, but the complex was not fully functional. There was a dramatic reduction in Mmachc RNA and protein expression associated with decreased cobalamin coenzymes MeCbl and AdoCbl and decreased functional activity of MTR (156570) and MUT (609058). Further in vitro studies suggested dysregulation of genes involved in ribosome biogenesis and abnormal protein translation; the authors concluded that HCFC1 mutations cause a ribosomopathy. Similar results were found in mutant mice homozygous for a F80L mutation in the THAP11 gene (609119.0001). </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>5 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 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3</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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HCFC1, A-G, 5-PRIME UTR
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<br />
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SNP: rs398122908,
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ClinVar: RCV000032896
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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 affected members of a family with X-linked intellectual developmental disorder-3 (XLID3; 309541) originally reported by Gedeon et al. (1991), Huang et al. (2012) identified an A-to-G transition in the 5-prime untranslated region of the HCFC1 gene (chrX.152,890,455A-G, NCBI36) within the S2 binding site for the transcription factor YY1 (600013). HCFC1 mRNA was 1.6-fold higher in patient lymphoblastoid cells compared to controls, and the A-G variant was shown to completely abolish YY1 binding in HEK293 T cells. Overexpression of the Hcfc1 gene in cultured murine neuronal stem cells resulted in a significant reduction of cells in the proliferative stage, promotion of cell-cycle exit, and increased production of astrocytes. Overexpression of the Hcfc1 gene in embryonic hippocampal neurons caused a reduction in neurite growth, a reduction in the degree of neurite arborization, and increased neuronal death. The findings suggested that HCFC1 is a potent regulator of embryonic neural development. Biochemical studies were not reported in this family. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3</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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HCFC1, SER225ASN
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<br />
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SNP: rs318240758,
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ClinVar: RCV000032897, RCV000059786
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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>By exome sequencing of a proband from a family with intellectual developmental disorder (XLID3; 309541), Huang et al. (2012) identified a c.674G-A transition in the HCFC1 gene, resulting in a ser225-to-asn (S225N) substitution at a highly conserved residue in one of the Kelch domains. The mutation segregated with the disorder in 3 additional affected male family members. Biochemical studies were not reported in this family. </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>.0003 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE</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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HCFC1, ALA115VAL
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<br />
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SNP: rs397515485,
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gnomAD: rs397515485,
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ClinVar: RCV000057506, RCV002513743
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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 9 unrelated males with methylmalonic aciduria and homocystinuria, cblX type (MAHCX; 309541), Yu et al. (2013) identified a hemizygous c.344C-T transition in exon 3 of the HCFC1 gene, resulting in an ala115-to-val (A115V) substitution at a highly conserved residue in the second kelch motif. The mutation in the first patient was found by exome sequencing and confirmed by Sanger sequencing; the mutation was present in his unaffected mother. The variant was not found in the dbSNP, NHLBI Exome Variant Server, or 1000 Genomes Project databases. Sanger sequencing did not find the variant in 50 control individuals of European descent, but it was found in 1 female individual among 50 control individuals of African American descent. The patients had severely delayed psychomotor development apparent in infancy and intractable seizures associated in most cases with increased plasma homocysteine and increased serum methylmalonic acid. </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>.0004 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE</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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HCFC1, ALA73VAL
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<br />
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SNP: rs397515486,
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ClinVar: RCV000057507, RCV000224133, RCV000224484, RCV001199845, RCV002513744
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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 unrelated boys with methylmalonic aciduria and homocystinuria, cblX type (MAHCX; 309541), Yu et al. (2013) identified a hemizygous c.218C-T transition in the HCFC1 gene, resulting in an ala73-to-val (A73V) substitution at a highly conserved residue in the first kelch motif. The patients had severely delayed psychomotor development apparent in infancy and intractable seizures. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblX TYPE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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HCFC1, ALA73THR
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<br />
|
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|
|
SNP: rs397515487,
|
|
|
|
|
|
|
|
ClinVar: RCV000057508, RCV002513745
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a boy with methylmalonic aciduria and homocystinuria, cblX type (MAHCX; 309541), Yu et al. (2013) identified a hemizygous c.217G-A transition in the HCFC1 gene, resulting in an ala73-to-thr (A73T) substitution at a highly conserved residue in the first kelch motif. The patient had severely delayed psychomotor development apparent in infancy, intractable seizures, and failure to thrive. </p>
|
|
</span>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Chern, T., Achilleos, A., Tong, X., Hill, M. C., Saltzman, A. B., Reineke, L. C., Chaudhury, A., Dasgupta, S. K., Redhead, Y., Watkins, D., Neilson, J. R., Thiagarajan, P., Green, J. B. A., Malovannaya, A., Martin, J. F., Rosenblatt, D. S., Poche, R. A.
|
|
<strong>Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.</strong>
|
|
Nature Commun. 13: 134, 2022.
|
|
|
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|
|
[PubMed: 35013307]
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|
|
|
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[Full Text: https://doi.org/10.1038/s41467-021-27759-7]
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</p>
|
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</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Faranda, S., Frattini, A., Vezzoni, P.
|
|
<strong>The human genes encoding renin-binding protein and host cell factor are closely linked in Xq28 and transcribed in the same direction.</strong>
|
|
Gene 155: 237-239, 1995.
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|
|
|
|
|
[PubMed: 7721097]
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|
|
|
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[Full Text: https://doi.org/10.1016/0378-1119(94)00810-f]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Frattini, A., Chatterjee, A., Faranda, S., Sacco, M. G., Villa, A., Herman, G. E., Vezzoni, P.
|
|
<strong>The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.</strong>
|
|
Genomics 32: 277-280, 1996.
|
|
|
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|
|
[PubMed: 8833156]
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[Full Text: https://doi.org/10.1006/geno.1996.0116]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Frattini, A., Faranda, S., Redolfi, E., Zucchi, I., Villa, A., Patrosso, M. C., Strina, D., Susani, L., Vezzoni, P.
|
|
<strong>Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.</strong>
|
|
Genomics 23: 30-35, 1994.
|
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|
|
[PubMed: 7829097]
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[Full Text: https://doi.org/10.1006/geno.1994.1455]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gedeon, A., Kerr, B., Mulley, J., Turner, G.
|
|
<strong>Localisation of the MRX3 gene for non-specific X linked mental retardation.</strong>
|
|
J. Med. Genet. 28: 372-377, 1991.
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[PubMed: 1870093]
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[Full Text: https://doi.org/10.1136/jmg.28.6.372]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Huang, L., Jolly, L. A., Willis-Owen, S., Gardner, A., Kumar, R., Douglas, E., Shoubridge, C., Wieczorek, D., Tzschach, A., Cohen, M., Hackett, A., Field, M., Froyen, G., Hu, H., Haas, S. A., Ropers, H.-H., Kalscheuer, V. M., Corbett, M. A., Gecz, J.
|
|
<strong>A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.</strong>
|
|
Am. J. Hum. Genet. 91: 694-702, 2012.
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|
|
[PubMed: 23000143]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.08.011]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lazarus, M. B., Jiang, J., Kapuria, V., Bhuiyan, T., Janetzko, J., Zandberg, W. F., Vocadlo, D. J., Herr, W., Walker, S.
|
|
<strong>HCF-1 is cleaved in the active site of O-GlcNAc transferase.</strong>
|
|
Science 342: 1235-1239, 2013.
|
|
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|
|
[PubMed: 24311690]
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[Full Text: https://doi.org/10.1126/science.1243990]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Liang, Y., Vogel, J. L., Narayanan, A., Peng, H., Kristie, T. M.
|
|
<strong>Inhibition of the histone demethylase LSD1 blocks alpha-herpesvirus lytic replication and reactivation from latency.</strong>
|
|
Nature Med. 15: 1312-1317, 2009.
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|
|
[PubMed: 19855399]
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|
[Full Text: https://doi.org/10.1038/nm.2051]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Mahajan, S. S., Little, M. M., Vazquez, R., Wilson, A. C.
|
|
<strong>Interaction of HCF-1 with a cellular nuclear export factor.</strong>
|
|
J. Biol. Chem. 277: 44292-44299, 2002.
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|
|
[PubMed: 12235138]
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[Full Text: https://doi.org/10.1074/jbc.M205440200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Quintana, A. M., Yu, H.-C., Brebner, A., Pupavac, M., Geiger, E. A., Watson, A., Castro, V. L., Cheung, W., Chen, S.-H., Watkins, D., Pastinen, T., Skovby, F., Appel, B., Rosenblatt, D. S., Shaikh, T. H.
|
|
<strong>Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.</strong>
|
|
Hum. Molec. Genet. 26: 2838-2849, 2017.
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|
|
[PubMed: 28449119]
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[Full Text: https://doi.org/10.1093/hmg/ddx157]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Wilson, A. C., LaMarco, K., Peterson, M. G., Herr, W.
|
|
<strong>The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein.</strong>
|
|
Cell 74: 115-125, 1993.
|
|
|
|
|
|
[PubMed: 8392914]
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|
|
[Full Text: https://doi.org/10.1016/0092-8674(93)90299-6]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Wilson, A. C., Parrish, J. E., Massa, H. F., Nelson, D. L., Trask, B. J., Herr, W.
|
|
<strong>The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney.</strong>
|
|
Genomics 25: 462-468, 1995.
|
|
|
|
|
|
[PubMed: 7789979]
|
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|
|
[Full Text: https://doi.org/10.1016/0888-7543(95)80046-o]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Yu, H.-C., Sloan, J. L., Scharer, G., Brebner, A., Quintana, A. M., Achilly, N. P., Manoli, I., Coughlin, C. R., II, Geiger, E. A., Schneck, U., Watkins, D., Suormala, T., Van Hove, J. L. K., Fowler, B., Baumgartner, M. R., Rosenblatt, D. S., Venditti, C. P., Shaikh, T. H.
|
|
<strong>An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.</strong>
|
|
Am. J. Hum. Genet. 93: 506-514, 2013.
|
|
|
|
|
|
[PubMed: 24011988]
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|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2013.07.022]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Zoppe, M., Frattini, A., Faranda, S., Vezzoni, P.
|
|
<strong>The complete sequence of the host cell factor 1 (HCFC1) gene and its promoter: a role for YY1 transcription factor in the regulation of its expression.</strong>
|
|
Genomics 34: 85-91, 1996.
|
|
|
|
|
|
[PubMed: 8661027]
|
|
|
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|
|
[Full Text: https://doi.org/10.1006/geno.1996.0244]
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|
</p>
|
|
</li>
|
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|
|
</ol>
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
</div>
|
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|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 09/12/2024<br>Bao Lige - updated : 03/18/2020<br>Ada Hamosh - updated : 01/30/2014<br>Cassandra L. Kniffin - updated : 10/16/2013<br>Cassandra L. Kniffin - updated : 10/17/2012<br>Paul J. Converse - updated : 12/2/2009
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Victor A. McKusick : 2/4/1996
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alopez : 09/17/2024<br>ckniffin : 09/17/2024<br>alopez : 09/16/2024<br>ckniffin : 09/12/2024<br>carol : 12/22/2021<br>carol : 11/18/2021<br>mgross : 03/19/2020<br>mgross : 03/18/2020<br>alopez : 01/30/2014<br>carol : 10/25/2013<br>carol : 10/17/2013<br>carol : 10/17/2013<br>ckniffin : 10/16/2013<br>terry : 10/19/2012<br>carol : 10/18/2012<br>ckniffin : 10/17/2012<br>carol : 4/7/2011<br>mgross : 4/20/2010<br>terry : 4/20/2010<br>mgross : 12/7/2009<br>terry : 12/2/2009<br>carol : 1/26/2009<br>ckniffin : 8/3/2005<br>carol : 6/25/2003<br>alopez : 7/21/1998<br>terry : 6/5/1996<br>terry : 6/3/1996<br>mark : 3/25/1996<br>terry : 3/14/1996<br>joanna : 2/4/1996
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