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Entry
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- *607347 - ALPHA KINASE 1; ALPK1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607347</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="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" 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/607347">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=ENSG00000073331;t=ENST00000650871" 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=80216" 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=607347" 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=ENSG00000073331;t=ENST00000650871" 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_001102406,NM_001253884,NM_025144" 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_025144" 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=607347" 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=09554&isoform_id=09554_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/ALPK1" 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/7959321,10439149,15341178,34526525,51555808,119626679,119626680,119626681,156151441,156151443,193783529,194382708,194388178,308153632,359806543,444733067" 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/Q96QP1" 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=80216" 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=ENSG00000073331;t=ENST00000650871" 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=ALPK1" 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=ALPK1" 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+80216" 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/ALPK1" 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:80216" 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/80216" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr4&hgg_gene=ENST00000650871.1&hgg_start=112297369&hgg_end=112442621&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607347[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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<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=607347[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000073331" 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=ALPK1" 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=ALPK1" 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=ALPK1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ALPK1&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/PA134891785" 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:20917" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1918731" 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/ALPK1#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:1918731" 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/80216/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=80216" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-140106-68" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ALPK1&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 771471002<br />
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">ICD+</a>
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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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607347
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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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ALPHA KINASE 1; ALPK1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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LYMPHOCYTE ALPHA KINASE; LAK<br />
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KIAA1527
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ALPK1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ALPK1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/4/494?start=-3&limit=10&highlight=494">4q25</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:112297369-112442621&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">4:112,297,369-112,442,621</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/4/494?start=-3&limit=10&highlight=494">
|
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4q25
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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ROSAH syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614979"> 614979 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/607347" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607347" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>ALPK1 is a member of the family of atypical protein kinases, which have a unique catalytic domain architecture (<a href="#3" class="mim-tip-reference" title="Middelbeek, J., Clark, K., Venselaar, H., Huynen, M. A., van Leeuwen, F. N. <strong>The alpha-kinase family: an exceptional branch on the protein kinase tree.</strong> Cell. Molec. Life Sci. 67: 875-890, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20012461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20012461</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20012461[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/10.1007/s00018-009-0215-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20012461">Middelbeek et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20012461" 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>Unlike most eukaryotic kinases, many alpha kinases recognize phosphorylation sites in which the surrounding peptides have an alpha-helical conformation. By EST database searching for homologs of the alpha kinase EEF2K (<a href="/entry/606968">606968</a>), <a href="#6" class="mim-tip-reference" title="Ryazanov, A. G., Pavur, K. S., Dorovkov, M. V. <strong>Alpha-kinases: a new class of protein kinases with a novel catalytic domain.</strong> Curr. Biol. 9: R43-R45, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10021370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10021370</a>] [<a href="https://doi.org/10.1016/s0960-9822(99)80006-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10021370">Ryazanov et al. (1999)</a> identified LAK, which they termed 'chromosome 4 kinase.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10021370" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening for cDNAs with the potential to encode large proteins expressed in brain, <a href="#4" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 143-150, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>] [<a href="https://doi.org/10.1093/dnares/7.2.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10819331">Nagase et al. (2000)</a> identified a partial cDNA encoding LAK, which they called KIAA1527. Using RT-PCR analysis, they detected moderate expression of LAK in all tissues tested except liver, where expression was high. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10819331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By quantitative RT-PCR in human donor eye tissue, <a href="#7" class="mim-tip-reference" title="Williams, L. B., Javed, A., Sabri, A., Morgan, D. J., Huff, C. D., Grigg, J. R., Heng, X. T., Khng, A. J., Hollink, I. H. I. M., Morrison, M. A., Owen, L. A., Anderson, K., and 29 others. <strong>ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.</strong> Genet. Med. 21: 2103-2115, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30967659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30967659</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30967659[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/s41436-019-0476-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30967659">Williams et al. (2019)</a> observed increased expression of AKPK1 in the retinal pigment epithelium (RPE) and optic nerve compared with the retina. RT-PCR performed on spleen tissue samples confirmed expression of ALPK1 in normal spleen. In the mouse retina, confocal microscopy showed that Alpk1 localized to the area of basal bodies in connecting cilia of the photoreceptors and to the RPE, as well as to the inner and outer plexiform layers. In the connecting cilium region, Alpk1 localized to the basal body of the photoreceptor cilium and adjacent centriole region. In mouse skin, Alpk1 was present in the sweat glands, especially in myoepithelial cells. There was also broad expression in other mouse tissues. Immunofluorescence studies in ARPE19 cells demonstrated localization of ALPK1 in the spindle poles at metaphase, and in centrosomes of cells during interphase. Super-resolution confocal imaging in immunostained serum-starved ARPE19 cells showed the presence of ALPK1 in the base of primary cilia. The authors suggested that ALPK1 might play a role in centrosome biology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30967659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a review, <a href="#3" class="mim-tip-reference" title="Middelbeek, J., Clark, K., Venselaar, H., Huynen, M. A., van Leeuwen, F. N. <strong>The alpha-kinase family: an exceptional branch on the protein kinase tree.</strong> Cell. Molec. Life Sci. 67: 875-890, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20012461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20012461</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20012461[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/10.1007/s00018-009-0215-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20012461">Middelbeek et al. (2010)</a> stated that the human genome contains 6 alpha kinases. EEF2K represents the oldest alpha kinase within the vertebrates. The alpha kinase domain present at the extreme C terminus of ALPK1, ALPK2 (<a href="/entry/619965">619965</a>), and ALPK3 (<a href="/entry/617608">617608</a>) is particularly well conserved between ALPK2 and ALPK3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20012461" 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="#6" class="mim-tip-reference" title="Ryazanov, A. G., Pavur, K. S., Dorovkov, M. V. <strong>Alpha-kinases: a new class of protein kinases with a novel catalytic domain.</strong> Curr. Biol. 9: R43-R45, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10021370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10021370</a>] [<a href="https://doi.org/10.1016/s0960-9822(99)80006-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10021370">Ryazanov et al. (1999)</a> and <a href="#4" class="mim-tip-reference" title="Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 7: 143-150, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>] [<a href="https://doi.org/10.1093/dnares/7.2.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10819331">Nagase et al. (2000)</a> mapped the ALPK1 gene to chromosome 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10021370+10819331" 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="#5" class="mim-tip-reference" title="Rashid, M., van der Horst, M., Mentzel, T., Butera, F., Ferreira, I., Pance, A., Rutten, A., Luzar, B., Marusic, Z., de Saint Aubain, N., Ko, J. S., Billings, S. D., and 14 others. <strong>ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.</strong> Nature Commun. 10: 2213, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31101826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31101826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31101826[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/s41467-019-09979-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31101826">Rashid et al. (2019)</a> stated that the ALPK1 gene is located on chromosome 4q25. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31101826" 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="#9" class="mim-tip-reference" title="Zhou, P., She, Y., Dong, N., Li, P., He, H., Borio, A., Wu, Q., Lu, S., Ding, X., Cao, Y., Xu, Y., Gao, W., Dong, M., Ding, J., Wang, D.-C., Zamyatina, A., Shao, F. <strong>Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose.</strong> Nature 561: 122-126, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30111836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30111836</a>] [<a href="https://doi.org/10.1038/s41586-018-0433-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30111836">Zhou et al. (2018)</a> found that ADP-beta-D-manno-heptose (ADP-Hep), but not other heptose metabolites, could enter host cytosol to activate NF-kappa-B (see <a href="/entry/164011">164011</a>). A CRISPR-Cas9 screen showed that activation of NF-kappa-B by ADP-Hep involves an ALPK1-TIFA (<a href="/entry/609028">609028</a>) axis. ADP-Hep directly binds the N-terminal domain of ALPK1, stimulating its kinase domain to phosphorylate and activate TIFA. The crystal structure of the N-terminal domain of ALPK1 and ADP-Hep in complex revealed the atomic mechanism of this ligand-receptor recognition process. The bacterial metabolite D-glycero-beta-D-manno-heptose 1,7-bisphosphonate (HBP) was transformed by host adenylyltransferases into ADP-heptose 7-P, which could activate ALPK1 to a lesser extent than ADP-Hep. ADP-Hep (but not HBP) alone or during bacterial infection induced Alpk1-dependent inflammation in mice. <a href="#9" class="mim-tip-reference" title="Zhou, P., She, Y., Dong, N., Li, P., He, H., Borio, A., Wu, Q., Lu, S., Ding, X., Cao, Y., Xu, Y., Gao, W., Dong, M., Ding, J., Wang, D.-C., Zamyatina, A., Shao, F. <strong>Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose.</strong> Nature 561: 122-126, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30111836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30111836</a>] [<a href="https://doi.org/10.1038/s41586-018-0433-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30111836">Zhou et al. (2018)</a> concluded that their findings identified ALPK1 and ADP-Hep as a pattern recognition receptor and an effective immunomodulator, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30111836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome</em></strong></p><p>
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In all 16 affected individuals from 5 unrelated families with retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH; <a href="/entry/614979">614979</a>), <a href="#7" class="mim-tip-reference" title="Williams, L. B., Javed, A., Sabri, A., Morgan, D. J., Huff, C. D., Grigg, J. R., Heng, X. T., Khng, A. J., Hollink, I. H. I. M., Morrison, M. A., Owen, L. A., Anderson, K., and 29 others. <strong>ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.</strong> Genet. Med. 21: 2103-2115, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30967659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30967659</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30967659[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/s41436-019-0476-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30967659">Williams et al. (2019)</a> identified heterozygosity for the same missense mutation in the ALPK1 gene (T237M; <a href="#0001">607347.0001</a>). The mutation segregated with disease in all families and was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30967659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated Chinese girls with ROSAH syndrome, <a href="#8" class="mim-tip-reference" title="Zhong, L., Wang, J., Wang, W., Wang, L., Quan, M., Tang, X., Gou, L., Wei, M., Xiao, J., Zhang, T., Sui, R., Zhou, Q., Song, H. <strong>Juvenile onset splenomegaly and oculopathy due to germline mutation in ALPK1.</strong> J. Clin. Immun. 40: 350-358, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31939038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31939038</a>] [<a href="https://doi.org/10.1007/s10875-020-00741-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31939038">Zhong et al. (2020)</a> identified heterozygosity for the previously reported recurrent T237M mutation in the ALPK1 gene. The mutation arose de novo in both probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31939038" 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="Kozycki, C. T., Kodati, S., Huryn, L., Wang, H., Warner, B. M., Jani, P., Hammoud, D., Abu-Asab, M. S., Jittayasothorn, Y., Mattapallil, M. J., Tsai, W. L., Ullah, E., and 59 others. <strong>Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.</strong> Ann. Rheum. Dis. 81: 1453-1464, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35868845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35868845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35868845[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/10.1136/annrheumdis-2022-222629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35868845">Kozycki et al. (2022)</a> reported molecular findings in 21 patients from 13 unrelated families with ROSAH syndrome. Twenty of the patients were heterozygous for the recurrent T237M mutation in the ALPK1 gene, and 1 patient (patient 13.1) was heterozygous for a Y254C (<a href="#0002">607347.0002</a>) mutation. In transfected HEK293T cells, both mutants increased constitutive NF-kappa-B activity via luciferase assay and had increased constitutive STAT1 (<a href="/entry/600555">600555</a>) activation compared to wildtype. In ADP-heptose-stimulated fibroblasts from the patient with the Y254C mutation and a patient with the T237M mutation, phosphorylation of members of the canonical NF-kappa-B pathway, including I-kappa-B alpha (NFKBIA; <a href="/entry/164008">164008</a>), IKK-alpha/beta (CHUK; <a href="/entry/600664">600664</a>/IKBKB; <a href="/entry/603258">603258</a>), p38 (MAPK14; <a href="/entry/600289">600289</a>), and JNK (<a href="/entry/601158">601158</a>), was increased compared to wildtype. <a href="#2" class="mim-tip-reference" title="Kozycki, C. T., Kodati, S., Huryn, L., Wang, H., Warner, B. M., Jani, P., Hammoud, D., Abu-Asab, M. S., Jittayasothorn, Y., Mattapallil, M. J., Tsai, W. L., Ullah, E., and 59 others. <strong>Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.</strong> Ann. Rheum. Dis. 81: 1453-1464, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35868845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35868845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35868845[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/10.1136/annrheumdis-2022-222629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35868845">Kozycki et al. (2022)</a> concluded that the Y254C and T237M mutations in the ALPK1 gene result in increased NF-kappa-B signaling and STAT1 phosphorylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35868845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic Mutation in Spiradenoma and Spiradenocarcinoma</em></strong></p><p>
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In biopsy specimens from skin adnexal tumors that were negative for mutation in the CYLD gene (<a href="/entry/605018">605018</a>), <a href="#5" class="mim-tip-reference" title="Rashid, M., van der Horst, M., Mentzel, T., Butera, F., Ferreira, I., Pance, A., Rutten, A., Luzar, B., Marusic, Z., de Saint Aubain, N., Ko, J. S., Billings, S. D., and 14 others. <strong>ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.</strong> Nature Commun. 10: 2213, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31101826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31101826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31101826[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/s41467-019-09979-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31101826">Rashid et al. (2019)</a> identified a recurrent somatic missense mutation (V1092A) in the alpha-kinase domain of the ALPK1 gene in 7 of 16 spiradenoma samples as well as in 2 of 8 high-grade and 2 of 6 low-grade spiradenocarcinoma samples. The variant was confirmed in 6 of 10 additional spiradenoma tumors. In several cases, the V1092A variant was present in adjacent morphologically normal tissue, at an average mutant allele fraction of 0.32. In addition, the mutation was observed in sequence data from benign precursor regions, suggesting that V1092A may be an early founder mutation or associated with a field change. Functional analysis in transfected cancer cell lines showed that the V1092A variant increased NFKB (see <a href="/entry/164011">164011</a>) pathway activity to a considerably higher level than wildtype ALPK1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31101826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chen, M., Xu, R. <strong>Motor coordination deficits in Alpk1 mutant mice with the inserted piggyBac transposon.</strong> BMC Neurosci. 12: 1, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21208416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21208416</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21208416[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/10.1186/1471-2202-12-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21208416">Chen and Xu (2011)</a> found that Alpk1 -/- mice had severe defects in motor coordination compared with wildtype. However, cerebellar architecture, Purkinje cell morphology, and electrophysiology of Purkinje cells appeared normal in Alpk1 -/- mice. Transgenic expression of full-length Alpk1 rescued motor coordination deficits in Alpk1 -/- mutant mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21208416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1052954321 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1052954321;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=rs1052954321" 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=rs1052954321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 16 affected individuals from 5 unrelated families (3 from the United States, 1 from the Netherlands, and 1 from Italy) with retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH; <a href="/entry/614979">614979</a>), <a href="#7" class="mim-tip-reference" title="Williams, L. B., Javed, A., Sabri, A., Morgan, D. J., Huff, C. D., Grigg, J. R., Heng, X. T., Khng, A. J., Hollink, I. H. I. M., Morrison, M. A., Owen, L. A., Anderson, K., and 29 others. <strong>ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.</strong> Genet. Med. 21: 2103-2115, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30967659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30967659</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30967659[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/s41436-019-0476-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30967659">Williams et al. (2019)</a> identified heterozygosity for a c.710C-T transition (c.710C-T, NM_025144) in exon 9 of the ALPK1 gene, resulting in a thr237-to-met (T237M) substitution at a highly conserved residue. The mutation segregated fully with disease in the families, and was not found in the gnomAD database. The occurrence of the same c.710C-T transition within a CG dimer in all 5 families was consistent with the existence of a mutational hotspot. Patient fibroblasts showed significantly fewer ciliated cells than control fibroblasts. In addition, HeLa cells transfected with the T237M mutant showed significantly higher numbers of multinucleated cells than controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30967659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated Chinese girls with ROSAH syndrome, <a href="#8" class="mim-tip-reference" title="Zhong, L., Wang, J., Wang, W., Wang, L., Quan, M., Tang, X., Gou, L., Wei, M., Xiao, J., Zhang, T., Sui, R., Zhou, Q., Song, H. <strong>Juvenile onset splenomegaly and oculopathy due to germline mutation in ALPK1.</strong> J. Clin. Immun. 40: 350-358, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31939038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31939038</a>] [<a href="https://doi.org/10.1007/s10875-020-00741-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31939038">Zhong et al. (2020)</a> identified heterozygosity for the recurrent T237M mutation in the ALPK1 gene. The mutation arose de novo in both probands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31939038" 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="Kozycki, C. T., Kodati, S., Huryn, L., Wang, H., Warner, B. M., Jani, P., Hammoud, D., Abu-Asab, M. S., Jittayasothorn, Y., Mattapallil, M. J., Tsai, W. L., Ullah, E., and 59 others. <strong>Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.</strong> Ann. Rheum. Dis. 81: 1453-1464, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35868845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35868845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35868845[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/10.1136/annrheumdis-2022-222629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35868845">Kozycki et al. (2022)</a> identified heterozygosity for the T237M mutation in ALPK1 in 20 patients with ROSAH syndrome from 12 unrelated families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35868845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient (patient 13.1) with retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH; <a href="/entry/614979">614979</a>), <a href="#2" class="mim-tip-reference" title="Kozycki, C. T., Kodati, S., Huryn, L., Wang, H., Warner, B. M., Jani, P., Hammoud, D., Abu-Asab, M. S., Jittayasothorn, Y., Mattapallil, M. J., Tsai, W. L., Ullah, E., and 59 others. <strong>Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.</strong> Ann. Rheum. Dis. 81: 1453-1464, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35868845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35868845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35868845[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/10.1136/annrheumdis-2022-222629" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35868845">Kozycki et al. (2022)</a> identified heterozygosity for a c.761A-G transition (c.761A-G, NM_025144.4) in the ALPK1 gene resulting in a tyr254-to-cys (Y254C) substitution in the ligand-binding domain of the protein. The mutation, which was identified by whole-exome sequencing, was absent from the gnomAD database and the patient's mother; DNA was not available from the deceased father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35868845" 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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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21208416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21208416</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21208416[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=21208416" 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/10.1186/1471-2202-12-1" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Kozycki2022" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kozycki, C. T., Kodati, S., Huryn, L., Wang, H., Warner, B. M., Jani, P., Hammoud, D., Abu-Asab, M. S., Jittayasothorn, Y., Mattapallil, M. J., Tsai, W. L., Ullah, E., and 59 others.
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<strong>Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.</strong>
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Ann. Rheum. Dis. 81: 1453-1464, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35868845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35868845</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=35868845[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=35868845" 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/10.1136/annrheumdis-2022-222629" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Middelbeek2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Middelbeek, J., Clark, K., Venselaar, H., Huynen, M. A., van Leeuwen, F. N.
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<strong>The alpha-kinase family: an exceptional branch on the protein kinase tree.</strong>
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Cell. Molec. Life Sci. 67: 875-890, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20012461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20012461</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20012461[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=20012461" 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/10.1007/s00018-009-0215-z" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Nagase2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 143-150, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10819331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10819331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10819331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/7.2.143" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Rashid2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rashid, M., van der Horst, M., Mentzel, T., Butera, F., Ferreira, I., Pance, A., Rutten, A., Luzar, B., Marusic, Z., de Saint Aubain, N., Ko, J. S., Billings, S. D., and 14 others.
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<strong>ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.</strong>
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Nature Commun. 10: 2213, 2019. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31101826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31101826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31101826[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=31101826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41467-019-09979-0" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Ryazanov1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ryazanov, A. G., Pavur, K. S., Dorovkov, M. V.
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<strong>Alpha-kinases: a new class of protein kinases with a novel catalytic domain.</strong>
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Curr. Biol. 9: R43-R45, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10021370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10021370</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10021370" 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/s0960-9822(99)80006-2" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Williams2019" class="mim-anchor"></a>
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<div class="">
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Williams, L. B., Javed, A., Sabri, A., Morgan, D. J., Huff, C. D., Grigg, J. R., Heng, X. T., Khng, A. J., Hollink, I. H. I. M., Morrison, M. A., Owen, L. A., Anderson, K., and 29 others.
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<strong>ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.</strong>
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Genet. Med. 21: 2103-2115, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30967659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30967659</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=30967659[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=30967659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41436-019-0476-3" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Zhong2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhong, L., Wang, J., Wang, W., Wang, L., Quan, M., Tang, X., Gou, L., Wei, M., Xiao, J., Zhang, T., Sui, R., Zhou, Q., Song, H.
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<strong>Juvenile onset splenomegaly and oculopathy due to germline mutation in ALPK1.</strong>
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J. Clin. Immun. 40: 350-358, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31939038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31939038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31939038" 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/10.1007/s10875-020-00741-6" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Zhou2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhou, P., She, Y., Dong, N., Li, P., He, H., Borio, A., Wu, Q., Lu, S., Ding, X., Cao, Y., Xu, Y., Gao, W., Dong, M., Ding, J., Wang, D.-C., Zamyatina, A., Shao, F.
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<strong>Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose.</strong>
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Nature 561: 122-126, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30111836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30111836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30111836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41586-018-0433-3" target="_blank">Full Text</a>]
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 09/01/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 10/03/2022<br>Bao Lige - updated : 02/07/2022<br>Marla J. F. O'Neill - updated : 10/28/2020<br>Ada Hamosh - updated : 11/19/2018
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse : 11/14/2002
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/01/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 10/03/2022<br>mgross : 02/07/2022<br>alopez : 10/28/2020<br>alopez : 11/19/2018<br>alopez : 08/07/2017<br>alopez : 01/28/2008<br>mgross : 11/14/2002
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</span>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 607347
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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ALPHA KINASE 1; ALPK1
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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LYMPHOCYTE ALPHA KINASE; LAK<br />
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KIAA1527
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ALPK1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 771471002;
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 4q25
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:112,297,369-112,442,621 </span>
|
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
|
Location
|
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</th>
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<th>
|
|
Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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4q25
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
ROSAH syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
614979
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>ALPK1 is a member of the family of atypical protein kinases, which have a unique catalytic domain architecture (Middelbeek et al., 2010). </p>
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</span>
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<div>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Unlike most eukaryotic kinases, many alpha kinases recognize phosphorylation sites in which the surrounding peptides have an alpha-helical conformation. By EST database searching for homologs of the alpha kinase EEF2K (606968), Ryazanov et al. (1999) identified LAK, which they termed 'chromosome 4 kinase.' </p><p>By screening for cDNAs with the potential to encode large proteins expressed in brain, Nagase et al. (2000) identified a partial cDNA encoding LAK, which they called KIAA1527. Using RT-PCR analysis, they detected moderate expression of LAK in all tissues tested except liver, where expression was high. </p><p>By quantitative RT-PCR in human donor eye tissue, Williams et al. (2019) observed increased expression of AKPK1 in the retinal pigment epithelium (RPE) and optic nerve compared with the retina. RT-PCR performed on spleen tissue samples confirmed expression of ALPK1 in normal spleen. In the mouse retina, confocal microscopy showed that Alpk1 localized to the area of basal bodies in connecting cilia of the photoreceptors and to the RPE, as well as to the inner and outer plexiform layers. In the connecting cilium region, Alpk1 localized to the basal body of the photoreceptor cilium and adjacent centriole region. In mouse skin, Alpk1 was present in the sweat glands, especially in myoepithelial cells. There was also broad expression in other mouse tissues. Immunofluorescence studies in ARPE19 cells demonstrated localization of ALPK1 in the spindle poles at metaphase, and in centrosomes of cells during interphase. Super-resolution confocal imaging in immunostained serum-starved ARPE19 cells showed the presence of ALPK1 in the base of primary cilia. The authors suggested that ALPK1 might play a role in centrosome biology. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Family</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a review, Middelbeek et al. (2010) stated that the human genome contains 6 alpha kinases. EEF2K represents the oldest alpha kinase within the vertebrates. The alpha kinase domain present at the extreme C terminus of ALPK1, ALPK2 (619965), and ALPK3 (617608) is particularly well conserved between ALPK2 and ALPK3. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By genomic sequence analysis, Ryazanov et al. (1999) and Nagase et al. (2000) mapped the ALPK1 gene to chromosome 4. </p><p>Rashid et al. (2019) stated that the ALPK1 gene is located on chromosome 4q25. </p>
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</span>
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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>Zhou et al. (2018) found that ADP-beta-D-manno-heptose (ADP-Hep), but not other heptose metabolites, could enter host cytosol to activate NF-kappa-B (see 164011). A CRISPR-Cas9 screen showed that activation of NF-kappa-B by ADP-Hep involves an ALPK1-TIFA (609028) axis. ADP-Hep directly binds the N-terminal domain of ALPK1, stimulating its kinase domain to phosphorylate and activate TIFA. The crystal structure of the N-terminal domain of ALPK1 and ADP-Hep in complex revealed the atomic mechanism of this ligand-receptor recognition process. The bacterial metabolite D-glycero-beta-D-manno-heptose 1,7-bisphosphonate (HBP) was transformed by host adenylyltransferases into ADP-heptose 7-P, which could activate ALPK1 to a lesser extent than ADP-Hep. ADP-Hep (but not HBP) alone or during bacterial infection induced Alpk1-dependent inflammation in mice. Zhou et al. (2018) concluded that their findings identified ALPK1 and ADP-Hep as a pattern recognition receptor and an effective immunomodulator, respectively. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome</em></strong></p><p>
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In all 16 affected individuals from 5 unrelated families with retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH; 614979), Williams et al. (2019) identified heterozygosity for the same missense mutation in the ALPK1 gene (T237M; 607347.0001). The mutation segregated with disease in all families and was not found in the gnomAD database. </p><p>In 2 unrelated Chinese girls with ROSAH syndrome, Zhong et al. (2020) identified heterozygosity for the previously reported recurrent T237M mutation in the ALPK1 gene. The mutation arose de novo in both probands. </p><p>Kozycki et al. (2022) reported molecular findings in 21 patients from 13 unrelated families with ROSAH syndrome. Twenty of the patients were heterozygous for the recurrent T237M mutation in the ALPK1 gene, and 1 patient (patient 13.1) was heterozygous for a Y254C (607347.0002) mutation. In transfected HEK293T cells, both mutants increased constitutive NF-kappa-B activity via luciferase assay and had increased constitutive STAT1 (600555) activation compared to wildtype. In ADP-heptose-stimulated fibroblasts from the patient with the Y254C mutation and a patient with the T237M mutation, phosphorylation of members of the canonical NF-kappa-B pathway, including I-kappa-B alpha (NFKBIA; 164008), IKK-alpha/beta (CHUK; 600664/IKBKB; 603258), p38 (MAPK14; 600289), and JNK (601158), was increased compared to wildtype. Kozycki et al. (2022) concluded that the Y254C and T237M mutations in the ALPK1 gene result in increased NF-kappa-B signaling and STAT1 phosphorylation. </p><p><strong><em>Somatic Mutation in Spiradenoma and Spiradenocarcinoma</em></strong></p><p>
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In biopsy specimens from skin adnexal tumors that were negative for mutation in the CYLD gene (605018), Rashid et al. (2019) identified a recurrent somatic missense mutation (V1092A) in the alpha-kinase domain of the ALPK1 gene in 7 of 16 spiradenoma samples as well as in 2 of 8 high-grade and 2 of 6 low-grade spiradenocarcinoma samples. The variant was confirmed in 6 of 10 additional spiradenoma tumors. In several cases, the V1092A variant was present in adjacent morphologically normal tissue, at an average mutant allele fraction of 0.32. In addition, the mutation was observed in sequence data from benign precursor regions, suggesting that V1092A may be an early founder mutation or associated with a field change. Functional analysis in transfected cancer cell lines showed that the V1092A variant increased NFKB (see 164011) pathway activity to a considerably higher level than wildtype ALPK1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chen and Xu (2011) found that Alpk1 -/- mice had severe defects in motor coordination compared with wildtype. However, cerebellar architecture, Purkinje cell morphology, and electrophysiology of Purkinje cells appeared normal in Alpk1 -/- mice. Transgenic expression of full-length Alpk1 rescued motor coordination deficits in Alpk1 -/- mutant mice. </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>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME</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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ALPK1, THR237MET
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<br />
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SNP: rs1052954321,
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ClinVar: RCV001263103, RCV001389989, RCV003947961, RCV004629319
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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 16 affected individuals from 5 unrelated families (3 from the United States, 1 from the Netherlands, and 1 from Italy) with retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH; 614979), Williams et al. (2019) identified heterozygosity for a c.710C-T transition (c.710C-T, NM_025144) in exon 9 of the ALPK1 gene, resulting in a thr237-to-met (T237M) substitution at a highly conserved residue. The mutation segregated fully with disease in the families, and was not found in the gnomAD database. The occurrence of the same c.710C-T transition within a CG dimer in all 5 families was consistent with the existence of a mutational hotspot. Patient fibroblasts showed significantly fewer ciliated cells than control fibroblasts. In addition, HeLa cells transfected with the T237M mutant showed significantly higher numbers of multinucleated cells than controls. </p><p>In 2 unrelated Chinese girls with ROSAH syndrome, Zhong et al. (2020) identified heterozygosity for the recurrent T237M mutation in the ALPK1 gene. The mutation arose de novo in both probands. </p><p>Kozycki et al. (2022) identified heterozygosity for the T237M mutation in ALPK1 in 20 patients with ROSAH syndrome from 12 unrelated families. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0002 RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME</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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ALPK1, TYR254CYS
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<br />
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ClinVar: RCV003325431
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (patient 13.1) with retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (ROSAH; 614979), Kozycki et al. (2022) identified heterozygosity for a c.761A-G transition (c.761A-G, NM_025144.4) in the ALPK1 gene resulting in a tyr254-to-cys (Y254C) substitution in the ligand-binding domain of the protein. The mutation, which was identified by whole-exome sequencing, was absent from the gnomAD database and the patient's mother; DNA was not available from the deceased father. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chen, M., Xu, R.
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<strong>Motor coordination deficits in Alpk1 mutant mice with the inserted piggyBac transposon.</strong>
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BMC Neurosci. 12: 1, 2011.
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[PubMed: 21208416]
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[Full Text: https://doi.org/10.1186/1471-2202-12-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kozycki, C. T., Kodati, S., Huryn, L., Wang, H., Warner, B. M., Jani, P., Hammoud, D., Abu-Asab, M. S., Jittayasothorn, Y., Mattapallil, M. J., Tsai, W. L., Ullah, E., and 59 others.
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<strong>Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.</strong>
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Ann. Rheum. Dis. 81: 1453-1464, 2022.
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[PubMed: 35868845]
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[Full Text: https://doi.org/10.1136/annrheumdis-2022-222629]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Middelbeek, J., Clark, K., Venselaar, H., Huynen, M. A., van Leeuwen, F. N.
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<strong>The alpha-kinase family: an exceptional branch on the protein kinase tree.</strong>
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Cell. Molec. Life Sci. 67: 875-890, 2010.
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[PubMed: 20012461]
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[Full Text: https://doi.org/10.1007/s00018-009-0215-z]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagase, T., Kikuno, R., Ishikawa, K., Hirosawa, M., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 7: 143-150, 2000.
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[PubMed: 10819331]
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[Full Text: https://doi.org/10.1093/dnares/7.2.143]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rashid, M., van der Horst, M., Mentzel, T., Butera, F., Ferreira, I., Pance, A., Rutten, A., Luzar, B., Marusic, Z., de Saint Aubain, N., Ko, J. S., Billings, S. D., and 14 others.
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<strong>ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.</strong>
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Nature Commun. 10: 2213, 2019. Note: Electronic Article.
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[PubMed: 31101826]
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[Full Text: https://doi.org/10.1038/s41467-019-09979-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ryazanov, A. G., Pavur, K. S., Dorovkov, M. V.
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<strong>Alpha-kinases: a new class of protein kinases with a novel catalytic domain.</strong>
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Curr. Biol. 9: R43-R45, 1999.
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[PubMed: 10021370]
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[Full Text: https://doi.org/10.1016/s0960-9822(99)80006-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Williams, L. B., Javed, A., Sabri, A., Morgan, D. J., Huff, C. D., Grigg, J. R., Heng, X. T., Khng, A. J., Hollink, I. H. I. M., Morrison, M. A., Owen, L. A., Anderson, K., and 29 others.
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<strong>ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.</strong>
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Genet. Med. 21: 2103-2115, 2019.
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[PubMed: 30967659]
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[Full Text: https://doi.org/10.1038/s41436-019-0476-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhong, L., Wang, J., Wang, W., Wang, L., Quan, M., Tang, X., Gou, L., Wei, M., Xiao, J., Zhang, T., Sui, R., Zhou, Q., Song, H.
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<strong>Juvenile onset splenomegaly and oculopathy due to germline mutation in ALPK1.</strong>
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J. Clin. Immun. 40: 350-358, 2020.
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[PubMed: 31939038]
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[Full Text: https://doi.org/10.1007/s10875-020-00741-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhou, P., She, Y., Dong, N., Li, P., He, H., Borio, A., Wu, Q., Lu, S., Ding, X., Cao, Y., Xu, Y., Gao, W., Dong, M., Ding, J., Wang, D.-C., Zamyatina, A., Shao, F.
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<strong>Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose.</strong>
|
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Nature 561: 122-126, 2018.
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[PubMed: 30111836]
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[Full Text: https://doi.org/10.1038/s41586-018-0433-3]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Hilary J. Vernon - updated : 09/01/2023<br>Bao Lige - updated : 10/03/2022<br>Bao Lige - updated : 02/07/2022<br>Marla J. F. O'Neill - updated : 10/28/2020<br>Ada Hamosh - updated : 11/19/2018
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Paul J. Converse : 11/14/2002
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</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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alopez : 09/01/2023<br>mgross : 10/03/2022<br>mgross : 02/07/2022<br>alopez : 10/28/2020<br>alopez : 11/19/2018<br>alopez : 08/07/2017<br>alopez : 01/28/2008<br>mgross : 11/14/2002
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