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Entry
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- *605855 - ATPase, PHOSPHOLIPID-TRANSPORTING, 10A; ATP10A
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- OMIM
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<p>
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<span class="h4">*605855</span>
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<br />
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<strong>Table of Contents</strong>
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<nav>
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<a href="#title"><strong>Title</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="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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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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<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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<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=ENSG00000206190;t=ENST00000555815" 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=57194" 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=605855" 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=ENSG00000206190;t=ENST00000555815" 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_024490,XM_005268261,XM_011521826,XM_011521828,XM_011521829,XM_017022437,XM_047432890,XM_047432891,XM_047432892,XR_001751368" 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_024490" 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=605855" 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=05790&isoform_id=05790_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/ATP10A" 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/3043656,13878299,14009443,14424433,22261792,30354081,71051951,119578051,119578052,119578053,119578054,530405188,767984819,767984824,767984826,1034591389,2217302163,2217302165,2217302168,2462545261,2462545263,2462545265,2462545267,2462545269,2462545271,2462545273" 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/O60312" 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=57194" 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=ENSG00000206190;t=ENST00000555815" 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=ATP10A" 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=ATP10A" 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+57194" 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/ATP10A" 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:57194" 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/57194" 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=chr15&hgg_gene=ENST00000555815.7&hgg_start=25672237&hgg_end=25865088&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13542" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605855[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</div>
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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=605855[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/ENSG00000206190" 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=ATP10A" 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=ATP10A" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ATP10A&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/PA25097" 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 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:13542" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0032120.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1330809" 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/ATP10A#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:1330809" 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/57194/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=57194" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00012360;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00012360 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00020784;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00020784 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-101102-1" 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 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=ATP10A&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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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605855
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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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ATPase, PHOSPHOLIPID-TRANSPORTING, 10A; ATP10A
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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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ATPase, CLASS V, TYPE 10A<br />
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ATPase, CLASS V, TYPE 10C; ATP10C<br />
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ATPVC
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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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<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=ATP10A" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ATP10A</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/15/35?start=-3&limit=10&highlight=35">15q12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:25672237-25865088&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'})">15:25,672,237-25,865,088</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="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#10" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> isolated a partial cDNA from brain encoding ATP10C, which they called KIAA0566. Based on homology analysis, they predicted that ATP10C is a probable calcium-transporting ATPase. RT-PCR analysis detected wide expression, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary, and small intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" 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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</span>
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<div>
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<br />
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</div>
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<a id="mapping" class="mim-anchor"></a>
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<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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<div id="mimMappingFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>By radiation hybrid analysis, <a href="#10" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> mapped the ATP10C gene to chromosome 15. <a href="#4" class="mim-tip-reference" title="Halleck, M. S., Lawler, J. F., Jr., Blackshaw, S., Gao, L., Nagarajan, P., Hacker, C., Pyle, S., Newman, J. T., Nakanishi, Y., Ando, H., Weinstock, D., Williamson, P., Schlegel, R. A. <strong>Differential expression of putative transbilayer amphipath transporters.</strong> Physiol. Genomics 1: 139-150, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11015572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11015572</a>] [<a href="https://doi.org/10.1152/physiolgenomics.1999.1.3.139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11015572">Halleck et al. (1999)</a> mapped the ATP10C gene, which they called ATPVC, to chromosome 15q11-q13 based on genomic sequence analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11015572+9628581" 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>The mouse Atp10a gene maps to chromosome 7 (<a href="#8" class="mim-tip-reference" title="Kayashima, T., Yamasaki, K., Joh, K., Yamada, T., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Mukai, T., Niikawa, N., Kishino, T. <strong>Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.</strong> Genomics 81: 644-647, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12782135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12782135</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00077-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12782135">Kayashima et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12782135" 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>Imprinting of ATP10A</em></strong></p><p>
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Lack of a maternal contribution to the genome at the imprinted domain on proximal chromosome 15 causes Angelman syndrome (AS; <a href="/entry/105830">105830</a>), which is associated with neurobehavioral anomalies that include severe mental retardation, ataxia, and epilepsy. Although AS patients infrequently have mutations in the UBE3A gene (<a href="/entry/601623">601623</a>), which encodes a ubiquitin ligase required for long-term synaptic potentiation (LTP), most cases are attributed to de novo maternal deletions of chromosome 15q11-q13. <a href="#9" class="mim-tip-reference" title="Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S., Oshimura, M. <strong>A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.</strong> Nature Genet. 28: 19-20, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326269</a>] [<a href="https://doi.org/10.1038/ng0501-19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326269">Meguro et al. (2001)</a> reported that the ATP10C gene is maternally expressed, that it maps within the most common interval of deletion responsible for AS, and that ATP10C expression is virtually absent from AS patients with imprinting mutations, as well as from patients with maternal deletions of chromosome 15q11-q13. They noted that maternal inheritance of deletions of the mouse Atp10c gene results in increased body fat (<a href="#2" class="mim-tip-reference" title="Dhar, M., Webb, L. S., Smith, L., Hauser, L., Johnson, D., West, D. B. <strong>A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat.</strong> Physiol. Genomics 4: 93-100, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11074018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11074018</a>] [<a href="https://doi.org/10.1152/physiolgenomics.2000.4.1.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11074018">Dhar et al., 2000</a>), and that an obese phenotype has consistently been observed in the mouse model for AS with paternal uniparental disomy (<a href="#1" class="mim-tip-reference" title="Cattanach, B. M., Barr, J. A., Beechey, C. V., Martin, J., Noebels, J., Jones, J. <strong>A candidate model for Angelman syndrome in the mouse.</strong> Mammalian Genome 8: 472-478, 1997. Note: Erratum: Mammalian Genome 8: 877 only, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195990</a>] [<a href="https://doi.org/10.1007/s003359900479" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9195990">Cattanach et al., 1997</a>). A subset of sporadic patients with AS has been associated with obesity resembling that of Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>) (<a href="#3" class="mim-tip-reference" title="Gillessen-Kaesbach, G., Demuth, S., Thiele, H., Theile, U., Lich, C., Horsthemke, B. <strong>A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.</strong> Europ. J. Hum. Genet. 7: 638-644, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482951</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10482951">Gillessen-Kaesbach et al., 1999</a>). <a href="#9" class="mim-tip-reference" title="Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S., Oshimura, M. <strong>A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.</strong> Nature Genet. 28: 19-20, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326269</a>] [<a href="https://doi.org/10.1038/ng0501-19" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11326269">Meguro et al. (2001)</a> speculated that ATP10C may be an aminophospholipid translocase involved in phospholipid transport. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11326269+10482951+11074018+9195990" 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="Herzing, L. B. K., Kim, S.-J., Cook, E. H., Jr., Ledbetter, D. H. <strong>The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.</strong> Am. J. Hum. Genet. 68: 1501-1505, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11353404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11353404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11353404[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/10.1086/320616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11353404">Herzing et al. (2001)</a> reported that ATP10C maps within 200 kb distal to UBE3A and, like UBE3A, demonstrates imprinted, preferential maternal expression in human brain. They suggested that ATP10C is a candidate for chromosome 15-associated autism and the Angelman syndrome phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11353404" 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="#7" class="mim-tip-reference" title="Kashiwagi, A., Meguro, M., Hoshiya, H., Haruta, M., Ishino, F., Shibahara, T., Oshimura, M. <strong>Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb.</strong> J. Hum. Genet. 48: 194-198, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12730723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12730723</a>] [<a href="https://doi.org/10.1007/s10038-003-0009-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12730723">Kashiwagi et al. (2003)</a> demonstrated that the mouse Atp10c gene shows tissue-specific maternal expression in the hippocampus and olfactory bulb, which overlaps the region of imprinted Ube3a expression. The data suggested that the imprinted transcript of Atp10c in the specific region of the central nervous system may be associated with neurologic disorders, including AS and autism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12730723" 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="#8" class="mim-tip-reference" title="Kayashima, T., Yamasaki, K., Joh, K., Yamada, T., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Mukai, T., Niikawa, N., Kishino, T. <strong>Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.</strong> Genomics 81: 644-647, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12782135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12782135</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00077-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12782135">Kayashima et al. (2003)</a> stated that the mouse Atp10a gene is located at the border of an imprinted domain on mouse chromosome 7. RT-PCR detected expression of Atp10a in all mouse tissues examined, with highest expression in brain, lung, spleen, white adipose tissue, and skin. Atp10a was biallelically expressed in all embryonic and adult tissues examined. There was no allele-specific methylation in the promoter region of the gene and no antisense transcripts that could control its expression. <a href="#8" class="mim-tip-reference" title="Kayashima, T., Yamasaki, K., Joh, K., Yamada, T., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Mukai, T., Niikawa, N., Kishino, T. <strong>Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.</strong> Genomics 81: 644-647, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12782135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12782135</a>] [<a href="https://doi.org/10.1016/s0888-7543(03)00077-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12782135">Kayashima et al. (2003)</a> concluded that the mouse Atp10a gene escapes genomic imprinting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12782135" 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 RT-PCR of 16 normal control brain samples, <a href="#6" class="mim-tip-reference" title="Hogart, A., Patzel, K. A., LaSalle, J. M. <strong>Gender influences monoallelic expression of ATP10A in human brain.</strong> Hum. Genet. 124: 235-242, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18726118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18726118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18726118[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/s00439-008-0546-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18726118">Hogart et al. (2008)</a> found that 10 (62.5%) exhibited biallelic expression and 6 (37.5%) showed monoallelic expression. Contrary to the expectation of a maternally expressed imprinted gene, quantitative RT-PCR revealed significantly reduced ATP10A transcript in PWS brains with 2 maternal chromosomes due to uniparental disomy (PWS-UPD). Furthermore, a PWS-UPD brain sample with monoallelic ATP10A expression demonstrated that monoallelic expression could be independent of imprinting. <a href="#6" class="mim-tip-reference" title="Hogart, A., Patzel, K. A., LaSalle, J. M. <strong>Gender influences monoallelic expression of ATP10A in human brain.</strong> Hum. Genet. 124: 235-242, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18726118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18726118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18726118[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/s00439-008-0546-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18726118">Hogart et al. (2008)</a> found that gender influenced allelic ATP10A expression, as females were significantly more likely to have monoallelic ATP10A expression than males (p = 0.0128). A promoter polymorphism that disrupted binding of the SP1 (<a href="/entry/189906">189906</a>) transcription factor potentially contributed to allelic expression differences in females. <a href="#6" class="mim-tip-reference" title="Hogart, A., Patzel, K. A., LaSalle, J. M. <strong>Gender influences monoallelic expression of ATP10A in human brain.</strong> Hum. Genet. 124: 235-242, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18726118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18726118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18726118[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/s00439-008-0546-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18726118">Hogart et al. (2008)</a> concluded that monoallelic expression of ATP10A is variable in the population and is influenced by both gender and common genetic variation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18726118" 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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Cattanach, B. M., Barr, J. A., Beechey, C. V., Martin, J., Noebels, J., Jones, J.
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<strong>A candidate model for Angelman syndrome in the mouse.</strong>
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Mammalian Genome 8: 472-478, 1997. Note: Erratum: Mammalian Genome 8: 877 only, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195990</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dhar, M., Webb, L. S., Smith, L., Hauser, L., Johnson, D., West, D. B.
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<strong>A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat.</strong>
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Physiol. Genomics 4: 93-100, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11074018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11074018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11074018" 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/10.1152/physiolgenomics.2000.4.1.93" target="_blank">Full Text</a>]
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Gillessen-Kaesbach, G., Demuth, S., Thiele, H., Theile, U., Lich, C., Horsthemke, B.
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<strong>A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.</strong>
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Europ. J. Hum. Genet. 7: 638-644, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10482951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10482951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10482951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Halleck, M. S., Lawler, J. F., Jr., Blackshaw, S., Gao, L., Nagarajan, P., Hacker, C., Pyle, S., Newman, J. T., Nakanishi, Y., Ando, H., Weinstock, D., Williamson, P., Schlegel, R. A.
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<strong>Differential expression of putative transbilayer amphipath transporters.</strong>
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Physiol. Genomics 1: 139-150, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11015572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11015572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11015572" 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/10.1152/physiolgenomics.1999.1.3.139" target="_blank">Full Text</a>]
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<a id="Herzing2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Herzing, L. B. K., Kim, S.-J., Cook, E. H., Jr., Ledbetter, D. H.
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<strong>The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.</strong>
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Am. J. Hum. Genet. 68: 1501-1505, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11353404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11353404</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11353404[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=11353404" 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/10.1086/320616" target="_blank">Full Text</a>]
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<a id="Hogart2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hogart, A., Patzel, K. A., LaSalle, J. M.
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<strong>Gender influences monoallelic expression of ATP10A in human brain.</strong>
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Hum. Genet. 124: 235-242, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18726118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18726118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18726118[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=18726118" 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/s00439-008-0546-0" target="_blank">Full Text</a>]
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<a id="Kashiwagi2003" class="mim-anchor"></a>
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Kashiwagi, A., Meguro, M., Hoshiya, H., Haruta, M., Ishino, F., Shibahara, T., Oshimura, M.
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<strong>Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb.</strong>
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J. Hum. Genet. 48: 194-198, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12730723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12730723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12730723" 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/s10038-003-0009-3" target="_blank">Full Text</a>]
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<a id="Kayashima2003" class="mim-anchor"></a>
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Kayashima, T., Yamasaki, K., Joh, K., Yamada, T., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Mukai, T., Niikawa, N., Kishino, T.
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<strong>Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.</strong>
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Genomics 81: 644-647, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12782135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12782135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12782135" 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/s0888-7543(03)00077-6" target="_blank">Full Text</a>]
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<a id="Meguro2001" class="mim-anchor"></a>
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Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S., Oshimura, M.
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<strong>A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.</strong>
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Nature Genet. 28: 19-20, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11326269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11326269</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11326269" 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/ng0501-19" target="_blank">Full Text</a>]
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<a id="Nagase1998" class="mim-anchor"></a>
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 31-39, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" 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/5.1.31" target="_blank">Full Text</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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Patricia A. Hartz - updated : 4/8/2009
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 5/14/2003<br>Victor A. McKusick - updated : 6/20/2001<br>Victor A. McKusick - updated : 4/24/2001
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse : 4/17/2001
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mgross : 03/10/2022
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<span class="mim-text-font">
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terry : 07/10/2012<br>terry : 7/3/2012<br>carol : 7/30/2010<br>mgross : 4/8/2009<br>carol : 6/6/2003<br>tkritzer : 5/16/2003<br>terry : 5/14/2003<br>mcapotos : 6/26/2001<br>mcapotos : 6/22/2001<br>terry : 6/20/2001<br>cwells : 5/31/2001<br>alopez : 4/27/2001<br>terry : 4/24/2001<br>mgross : 4/23/2001<br>mgross : 4/17/2001
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<strong>*</strong> 605855
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ATPase, PHOSPHOLIPID-TRANSPORTING, 10A; ATP10A
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<em>Alternative titles; symbols</em>
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ATPase, CLASS V, TYPE 10A<br />
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ATPase, CLASS V, TYPE 10C; ATP10C<br />
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ATPVC
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<strong><em>HGNC Approved Gene Symbol: ATP10A</em></strong>
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Cytogenetic location: 15q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:25,672,237-25,865,088 </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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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Nagase et al. (1998) isolated a partial cDNA from brain encoding ATP10C, which they called KIAA0566. Based on homology analysis, they predicted that ATP10C is a probable calcium-transporting ATPase. RT-PCR analysis detected wide expression, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary, and small intestine. </p>
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<strong>Mapping</strong>
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<p>By radiation hybrid analysis, Nagase et al. (1998) mapped the ATP10C gene to chromosome 15. Halleck et al. (1999) mapped the ATP10C gene, which they called ATPVC, to chromosome 15q11-q13 based on genomic sequence analysis. </p><p>The mouse Atp10a gene maps to chromosome 7 (Kayashima et al., 2003). </p>
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<strong>Gene Function</strong>
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<p><strong><em>Imprinting of ATP10A</em></strong></p><p>
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Lack of a maternal contribution to the genome at the imprinted domain on proximal chromosome 15 causes Angelman syndrome (AS; 105830), which is associated with neurobehavioral anomalies that include severe mental retardation, ataxia, and epilepsy. Although AS patients infrequently have mutations in the UBE3A gene (601623), which encodes a ubiquitin ligase required for long-term synaptic potentiation (LTP), most cases are attributed to de novo maternal deletions of chromosome 15q11-q13. Meguro et al. (2001) reported that the ATP10C gene is maternally expressed, that it maps within the most common interval of deletion responsible for AS, and that ATP10C expression is virtually absent from AS patients with imprinting mutations, as well as from patients with maternal deletions of chromosome 15q11-q13. They noted that maternal inheritance of deletions of the mouse Atp10c gene results in increased body fat (Dhar et al., 2000), and that an obese phenotype has consistently been observed in the mouse model for AS with paternal uniparental disomy (Cattanach et al., 1997). A subset of sporadic patients with AS has been associated with obesity resembling that of Prader-Willi syndrome (PWS; 176270) (Gillessen-Kaesbach et al., 1999). Meguro et al. (2001) speculated that ATP10C may be an aminophospholipid translocase involved in phospholipid transport. </p><p>Herzing et al. (2001) reported that ATP10C maps within 200 kb distal to UBE3A and, like UBE3A, demonstrates imprinted, preferential maternal expression in human brain. They suggested that ATP10C is a candidate for chromosome 15-associated autism and the Angelman syndrome phenotype. </p><p>Kashiwagi et al. (2003) demonstrated that the mouse Atp10c gene shows tissue-specific maternal expression in the hippocampus and olfactory bulb, which overlaps the region of imprinted Ube3a expression. The data suggested that the imprinted transcript of Atp10c in the specific region of the central nervous system may be associated with neurologic disorders, including AS and autism. </p><p>Kayashima et al. (2003) stated that the mouse Atp10a gene is located at the border of an imprinted domain on mouse chromosome 7. RT-PCR detected expression of Atp10a in all mouse tissues examined, with highest expression in brain, lung, spleen, white adipose tissue, and skin. Atp10a was biallelically expressed in all embryonic and adult tissues examined. There was no allele-specific methylation in the promoter region of the gene and no antisense transcripts that could control its expression. Kayashima et al. (2003) concluded that the mouse Atp10a gene escapes genomic imprinting. </p><p>By RT-PCR of 16 normal control brain samples, Hogart et al. (2008) found that 10 (62.5%) exhibited biallelic expression and 6 (37.5%) showed monoallelic expression. Contrary to the expectation of a maternally expressed imprinted gene, quantitative RT-PCR revealed significantly reduced ATP10A transcript in PWS brains with 2 maternal chromosomes due to uniparental disomy (PWS-UPD). Furthermore, a PWS-UPD brain sample with monoallelic ATP10A expression demonstrated that monoallelic expression could be independent of imprinting. Hogart et al. (2008) found that gender influenced allelic ATP10A expression, as females were significantly more likely to have monoallelic ATP10A expression than males (p = 0.0128). A promoter polymorphism that disrupted binding of the SP1 (189906) transcription factor potentially contributed to allelic expression differences in females. Hogart et al. (2008) concluded that monoallelic expression of ATP10A is variable in the population and is influenced by both gender and common genetic variation. </p>
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<strong>REFERENCES</strong>
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Cattanach, B. M., Barr, J. A., Beechey, C. V., Martin, J., Noebels, J., Jones, J.
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<strong>A candidate model for Angelman syndrome in the mouse.</strong>
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Mammalian Genome 8: 472-478, 1997. Note: Erratum: Mammalian Genome 8: 877 only, 1997.
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[PubMed: 9195990]
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[Full Text: https://doi.org/10.1007/s003359900479]
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Dhar, M., Webb, L. S., Smith, L., Hauser, L., Johnson, D., West, D. B.
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<strong>A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat.</strong>
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Physiol. Genomics 4: 93-100, 2000.
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[PubMed: 11074018]
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[Full Text: https://doi.org/10.1152/physiolgenomics.2000.4.1.93]
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Gillessen-Kaesbach, G., Demuth, S., Thiele, H., Theile, U., Lich, C., Horsthemke, B.
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<strong>A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.</strong>
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Europ. J. Hum. Genet. 7: 638-644, 1999.
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[PubMed: 10482951]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200362]
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Halleck, M. S., Lawler, J. F., Jr., Blackshaw, S., Gao, L., Nagarajan, P., Hacker, C., Pyle, S., Newman, J. T., Nakanishi, Y., Ando, H., Weinstock, D., Williamson, P., Schlegel, R. A.
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<strong>Differential expression of putative transbilayer amphipath transporters.</strong>
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Physiol. Genomics 1: 139-150, 1999.
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[PubMed: 11015572]
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[Full Text: https://doi.org/10.1152/physiolgenomics.1999.1.3.139]
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Herzing, L. B. K., Kim, S.-J., Cook, E. H., Jr., Ledbetter, D. H.
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<strong>The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression.</strong>
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Am. J. Hum. Genet. 68: 1501-1505, 2001.
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[PubMed: 11353404]
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[Full Text: https://doi.org/10.1086/320616]
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Hogart, A., Patzel, K. A., LaSalle, J. M.
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<strong>Gender influences monoallelic expression of ATP10A in human brain.</strong>
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Hum. Genet. 124: 235-242, 2008.
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[PubMed: 18726118]
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[Full Text: https://doi.org/10.1007/s00439-008-0546-0]
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Kashiwagi, A., Meguro, M., Hoshiya, H., Haruta, M., Ishino, F., Shibahara, T., Oshimura, M.
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<strong>Predominant maternal expression of the mouse Atp10c in hippocampus and olfactory bulb.</strong>
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J. Hum. Genet. 48: 194-198, 2003.
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[PubMed: 12730723]
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[Full Text: https://doi.org/10.1007/s10038-003-0009-3]
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Kayashima, T., Yamasaki, K., Joh, K., Yamada, T., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Mukai, T., Niikawa, N., Kishino, T.
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<strong>Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.</strong>
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Genomics 81: 644-647, 2003.
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[PubMed: 12782135]
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[Full Text: https://doi.org/10.1016/s0888-7543(03)00077-6]
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Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S., Oshimura, M.
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<strong>A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome.</strong>
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Nature Genet. 28: 19-20, 2001.
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[PubMed: 11326269]
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 31-39, 1998.
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[PubMed: 9628581]
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[Full Text: https://doi.org/10.1093/dnares/5.1.31]
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Patricia A. Hartz - updated : 4/8/2009<br>Victor A. McKusick - updated : 5/14/2003<br>Victor A. McKusick - updated : 6/20/2001<br>Victor A. McKusick - updated : 4/24/2001
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