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Entry
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- *608285 - NAD SYNTHETASE 1; NADSYN1
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- OMIM
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<p>
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<span class="h4">*608285</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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<li role="presentation">
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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="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/608285">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-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=ENSG00000172890;t=ENST00000319023" 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=55191" 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=608285" 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=ENSG00000172890;t=ENST00000319023" 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_018161" 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_018161" 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=608285" 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=16309&isoform_id=16309_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/NADSYN1" 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/7022784,10433831,13177721,13177799,28849201,41393551,48146689,119595198,119595199,193783645,257051045" 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/Q6IA69" 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=55191" 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=ENSG00000172890;t=ENST00000319023" 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=NADSYN1" 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=NADSYN1" 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+55191" 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/NADSYN1" 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:55191" 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/55191" 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=chr11&hgg_gene=ENST00000319023.7&hgg_start=71453203&hgg_end=71501816&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 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=608285[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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</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=608285[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/NADSYN1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000172890" 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=NADSYN1" 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=NADSYN1" 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=NADSYN1" 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=NADSYN1&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/PA142671299" 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:29832" 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/FBgn0030512.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:1926164" 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/NADSYN1#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:1926164" 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/55191/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=55191" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00007698;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070615-22" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55191" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=NADSYN1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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608285
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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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NAD SYNTHETASE 1; NADSYN1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NADSYN1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NADSYN1</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/11/708?start=-3&limit=10&highlight=708">11q13.4</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:71453203-71501816&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'})">11:71,453,203-71,501,816</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/11/708?start=-3&limit=10&highlight=708">
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11q13.4
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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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Vertebral, cardiac, renal, and limb defects syndrome 3
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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/618845"> 618845 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/608285" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/608285" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (<a href="https://enzyme.expasy.org/EC/6.3.5.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EC\', \'domain\': \'expasy.org\'})">EC 6.3.5.1</a>) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD) (summary by <a href="#1" class="mim-tip-reference" title="Hara, N., Yamada, K., Terashima, M., Osago, H., Shimoyama, M., Tsuchiya, M. <strong>Molecular identification of human glutamine- and ammonia-dependent NAD synthetases: carbon-nitrogen hydrolase domain confers glutamine dependency.</strong> J. Biol. Chem. 278: 10914-10921, 2003. Note: Erratum: J. Biol. Chem. 278: 41572 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12547821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12547821</a>] [<a href="https://doi.org/10.1074/jbc.M209203200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12547821">Hara et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12547821" 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 searching EST databases for sequences similar to B. subtilis NAD synthetase, followed by PCR of a fetal brain cDNA library and 5-prime RACE of a myeloid leukemia cell cDNA library, <a href="#1" class="mim-tip-reference" title="Hara, N., Yamada, K., Terashima, M., Osago, H., Shimoyama, M., Tsuchiya, M. <strong>Molecular identification of human glutamine- and ammonia-dependent NAD synthetases: carbon-nitrogen hydrolase domain confers glutamine dependency.</strong> J. Biol. Chem. 278: 10914-10921, 2003. Note: Erratum: J. Biol. Chem. 278: 41572 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12547821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12547821</a>] [<a href="https://doi.org/10.1074/jbc.M209203200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12547821">Hara et al. (2003)</a> cloned NADSYN1. The deduced 706-amino acid protein contains an N-terminal carbon-nitrogen hydrolase domain, a P-loop ATP-binding site, and a C-terminal NAD synthase domain. Northern blot analysis detected a 3.1-kb transcript in several mouse tissues, with highest expression in small intestine, kidney, liver, and testis, and weaker expression in skeletal muscle, spleen, lung, heart, and brain. Expression was also detected in human glioma and promyelocytic leukemia cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12547821" 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 biochemical assay of recombinant epitope-tagged NADSYN1 expressed in COS-7 cells, <a href="#1" class="mim-tip-reference" title="Hara, N., Yamada, K., Terashima, M., Osago, H., Shimoyama, M., Tsuchiya, M. <strong>Molecular identification of human glutamine- and ammonia-dependent NAD synthetases: carbon-nitrogen hydrolase domain confers glutamine dependency.</strong> J. Biol. Chem. 278: 10914-10921, 2003. Note: Erratum: J. Biol. Chem. 278: 41572 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12547821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12547821</a>] [<a href="https://doi.org/10.1074/jbc.M209203200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12547821">Hara et al. (2003)</a> confirmed that NADSYN1 shows NAD synthetase activity. NADSYN1 utilized both glutamine and ammonia as amide donors. Omission of ATP, Mg(2+), or NaAD resulted in complete loss of NAD synthesis. A mutant NADSYN1 in which cys175, corresponding to the catalytic cysteine in nitrilases (see <a href="/entry/604618">604618</a>), was replaced with ser did not utilize glutamine. Migration of the active NADSYN1 species on a nonreducing PAGE gel indicated that NADSYN1 forms a homohexamer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12547821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 sibs with vertebral, cardiac, renal, and limb abnormalities (VCRL3; <a href="/entry/618845">618845</a>), <a href="#3" class="mim-tip-reference" title="Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. B., Cuny, H., Drysdale, T., Flores-Daboub, J. A., Bi, W., Westerfield, L., Liu, P., Leung, T. N., Choy, K. W., Chapman, G., Xiao, R., Siu, V. M., Dunwoodie, S. L. <strong>Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.</strong> Am. J. Hum. Genet. 106: 129-136, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883644</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31883644">Szot et al. (2020)</a> identified homozygosity for a missense mutation in the NADSYN1 gene (A573T; <a href="#0001">608285.0001</a>). Using GeneMatcher, they identified 3 more patients with similar anomalies and homozygous or compound heterozygous mutations in NADSYN1 (see, e.g., <a href="#0002">608285.0002</a>-<a href="#0004">608285.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=608285[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs144139747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs144139747;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs144139747?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs144139747" 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=rs144139747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs (family 1) with vertebral, cardiac, renal, and limb abnormalities (VCRL3; <a href="/entry/618845">618845</a>), <a href="#3" class="mim-tip-reference" title="Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. B., Cuny, H., Drysdale, T., Flores-Daboub, J. A., Bi, W., Westerfield, L., Liu, P., Leung, T. N., Choy, K. W., Chapman, G., Xiao, R., Siu, V. M., Dunwoodie, S. L. <strong>Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.</strong> Am. J. Hum. Genet. 106: 129-136, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883644</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31883644">Szot et al. (2020)</a> identified homozygosity for a c.1717G-A transition (c.1717G-A, NM_018161.5) in the NADSYN1 gene, resulting in an ala573-to-thr (A573T) substitution at a highly conserved residue within the P2 loop of the NAD synthetase domain. Their unaffected parents were heterozygous for the mutation. Using GeneMatcher, the authors identified a similarly affected male infant (family 2) who was compound heterozygous for the A573T mutation and a 1-bp deletion (c.1819del; <a href="#0002">608285.0002</a>), causing a frameshift predicted to result in a premature termination codon (Val607TrpfsTer30). His unaffected parents were each heterozygous for 1 of the mutations. The A573T and c.1819del mutations were both present at low minor allele frequency in the gnomAD database (7.40 x 10(-4) and 7.07 x 10(-6), respectively). In yeast complementation assays, the A573T mutant showed an 86% decrease in total cellular NAD compared to wildtype NADSYN1. Enzymatic assays in transfected COS7 cells showed an approximately 342-fold reduction in NAD synthetase-specific activity with the mutant compared to wildtype protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883644" 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"><span class="text-primary">●</span> rs1327307171 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1327307171;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1327307171?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1327307171" 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=rs1327307171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the 1-bp deletion (c.1819del, NM_018161.5) in the NADSYN1 gene, causing a frameshift predicted to result in a premature termination codon (Val607TrpfsTer30), that was found in compound heterozygous state in a male infant (family 2) with vertebral, cardiac, renal, and limb abnormalities (VCRL3; <a href="/entry/618845">618845</a>) by <a href="#3" class="mim-tip-reference" title="Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. B., Cuny, H., Drysdale, T., Flores-Daboub, J. A., Bi, W., Westerfield, L., Liu, P., Leung, T. N., Choy, K. W., Chapman, G., Xiao, R., Siu, V. M., Dunwoodie, S. L. <strong>Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.</strong> Am. J. Hum. Genet. 106: 129-136, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883644</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31883644">Szot et al. (2020)</a> through GeneMatcher, see <a href="#0001">608285.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883644" 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">rs1949650831 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1949650831;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=rs1949650831" 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=rs1949650831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001035452 OR RCV001078189" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001035452, RCV001078189" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001035452...</a>
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<p>Using GeneMatcher, <a href="#3" class="mim-tip-reference" title="Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. B., Cuny, H., Drysdale, T., Flores-Daboub, J. A., Bi, W., Westerfield, L., Liu, P., Leung, T. N., Choy, K. W., Chapman, G., Xiao, R., Siu, V. M., Dunwoodie, S. L. <strong>Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.</strong> Am. J. Hum. Genet. 106: 129-136, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883644</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31883644">Szot et al. (2020)</a> identified a male infant (family 4) with vertebral, cardiac, renal, and limb abnormalities (VCRL3; <a href="/entry/618845">618845</a>) who was compound heterozygous for a c.735T-A transversion (c.735T-A, NM_018161.5) in the NADSYN1 gene, resulting in a cys245-to-ter (C245X) substitution, and a c.1839C-G transversion, resulting in a tyr613-to-ter (Y613X) substitution. His unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883644" 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 class="mim-font">
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<strong>.0004 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3</strong>
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NADSYN1, TYR613TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1008561025 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1008561025;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=rs1008561025" 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=rs1008561025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV001035454 OR RCV001078188" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV001035454, RCV001078188" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV001035454...</a>
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<p>For discussion of the c.1839C-G transversion (c.1839C-G, NM_018161.5) in the NADSYN1 gene, resulting in a tyr613-to-ter (Y613X) substitution, that was reported in compound heterozygous state in a patient (family 4) with vertebral, cardiac, renal, and limb abnormalities (VCRL3; <a href="/entry/618845">618845</a>) by <a href="#3" class="mim-tip-reference" title="Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. B., Cuny, H., Drysdale, T., Flores-Daboub, J. A., Bi, W., Westerfield, L., Liu, P., Leung, T. N., Choy, K. W., Chapman, G., Xiao, R., Siu, V. M., Dunwoodie, S. L. <strong>Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.</strong> Am. J. Hum. Genet. 106: 129-136, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883644</a>] [<a href="https://doi.org/10.1016/j.ajhg.2019.12.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31883644">Szot et al. (2020)</a>, see <a href="#0003">608285.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Hara2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hara, N., Yamada, K., Terashima, M., Osago, H., Shimoyama, M., Tsuchiya, M.
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<strong>Molecular identification of human glutamine- and ammonia-dependent NAD synthetases: carbon-nitrogen hydrolase domain confers glutamine dependency.</strong>
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J. Biol. Chem. 278: 10914-10921, 2003. Note: Erratum: J. Biol. Chem. 278: 41572 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12547821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12547821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12547821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M209203200" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Stumpf2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 04/10/2020.
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<a id="3" class="mim-anchor"></a>
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<a id="Szot2020" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. B., Cuny, H., Drysdale, T., Flores-Daboub, J. A., Bi, W., Westerfield, L., Liu, P., Leung, T. N., Choy, K. W., Chapman, G., Xiao, R., Siu, V. M., Dunwoodie, S. L.
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<strong>Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.</strong>
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Am. J. Hum. Genet. 106: 129-136, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2019.12.006" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 04/10/2020
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<a id="creationDate" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 11/25/2003
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<span class="text-nowrap mim-text-font">
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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 : 04/10/2020
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<span class="mim-text-font">
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carol : 06/25/2014<br>terry : 9/14/2012<br>alopez : 2/2/2009<br>mgross : 11/25/2003
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<strong>*</strong> 608285
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<h3>
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<span class="mim-font">
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NAD SYNTHETASE 1; NADSYN1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NADSYN1</em></strong>
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<strong>
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Cytogenetic location: 11q13.4
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:71,453,203-71,501,816 </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>Gene-Phenotype Relationships</strong>
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Location
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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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11q13.4
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<span class="mim-font">
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Vertebral, cardiac, renal, and limb defects syndrome 3
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<span class="mim-font">
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618845
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<div>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD) (summary by Hara et al., 2003). </p>
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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 class="mim-text-font">
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<p>By searching EST databases for sequences similar to B. subtilis NAD synthetase, followed by PCR of a fetal brain cDNA library and 5-prime RACE of a myeloid leukemia cell cDNA library, Hara et al. (2003) cloned NADSYN1. The deduced 706-amino acid protein contains an N-terminal carbon-nitrogen hydrolase domain, a P-loop ATP-binding site, and a C-terminal NAD synthase domain. Northern blot analysis detected a 3.1-kb transcript in several mouse tissues, with highest expression in small intestine, kidney, liver, and testis, and weaker expression in skeletal muscle, spleen, lung, heart, and brain. Expression was also detected in human glioma and promyelocytic leukemia cell lines. </p>
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</span>
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<div>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Stumpf (2020) mapped the NADSYN1 gene to chromosome 11q13.4 based on an alignment of the NADSYN1 sequence (GenBank BC003638) with the genomic sequence (GRCh38).</p>
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</span>
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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>By biochemical assay of recombinant epitope-tagged NADSYN1 expressed in COS-7 cells, Hara et al. (2003) confirmed that NADSYN1 shows NAD synthetase activity. NADSYN1 utilized both glutamine and ammonia as amide donors. Omission of ATP, Mg(2+), or NaAD resulted in complete loss of NAD synthesis. A mutant NADSYN1 in which cys175, corresponding to the catalytic cysteine in nitrilases (see 604618), was replaced with ser did not utilize glutamine. Migration of the active NADSYN1 species on a nonreducing PAGE gel indicated that NADSYN1 forms a homohexamer. </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>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>In 2 sibs with vertebral, cardiac, renal, and limb abnormalities (VCRL3; 618845), Szot et al. (2020) identified homozygosity for a missense mutation in the NADSYN1 gene (A573T; 608285.0001). Using GeneMatcher, they identified 3 more patients with similar anomalies and homozygous or compound heterozygous mutations in NADSYN1 (see, e.g., 608285.0002-608285.0004). </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 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 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3</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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NADSYN1, ALA573THR
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<br />
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SNP: rs144139747,
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gnomAD: rs144139747,
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ClinVar: RCV001035449, RCV001078184, RCV001532179, RCV002274118, RCV003963002
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs (family 1) with vertebral, cardiac, renal, and limb abnormalities (VCRL3; 618845), Szot et al. (2020) identified homozygosity for a c.1717G-A transition (c.1717G-A, NM_018161.5) in the NADSYN1 gene, resulting in an ala573-to-thr (A573T) substitution at a highly conserved residue within the P2 loop of the NAD synthetase domain. Their unaffected parents were heterozygous for the mutation. Using GeneMatcher, the authors identified a similarly affected male infant (family 2) who was compound heterozygous for the A573T mutation and a 1-bp deletion (c.1819del; 608285.0002), causing a frameshift predicted to result in a premature termination codon (Val607TrpfsTer30). His unaffected parents were each heterozygous for 1 of the mutations. The A573T and c.1819del mutations were both present at low minor allele frequency in the gnomAD database (7.40 x 10(-4) and 7.07 x 10(-6), respectively). In yeast complementation assays, the A573T mutant showed an 86% decrease in total cellular NAD compared to wildtype NADSYN1. Enzymatic assays in transfected COS7 cells showed an approximately 342-fold reduction in NAD synthetase-specific activity with the mutant compared to wildtype protein. </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 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NADSYN1, 1-BP DEL, NT1819
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<br />
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SNP: rs1327307171,
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gnomAD: rs1327307171,
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ClinVar: RCV001035450, RCV001078185
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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>For discussion of the 1-bp deletion (c.1819del, NM_018161.5) in the NADSYN1 gene, causing a frameshift predicted to result in a premature termination codon (Val607TrpfsTer30), that was found in compound heterozygous state in a male infant (family 2) with vertebral, cardiac, renal, and limb abnormalities (VCRL3; 618845) by Szot et al. (2020) through GeneMatcher, see 608285.0001. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NADSYN1, CYS245TER
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<br />
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SNP: rs1949650831,
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ClinVar: RCV001035452, RCV001078189
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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>Using GeneMatcher, Szot et al. (2020) identified a male infant (family 4) with vertebral, cardiac, renal, and limb abnormalities (VCRL3; 618845) who was compound heterozygous for a c.735T-A transversion (c.735T-A, NM_018161.5) in the NADSYN1 gene, resulting in a cys245-to-ter (C245X) substitution, and a c.1839C-G transversion, resulting in a tyr613-to-ter (Y613X) substitution. His unaffected parents were each heterozygous for 1 of the mutations, neither of which was found in the gnomAD database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0004 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NADSYN1, TYR613TER
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<br />
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SNP: rs1008561025,
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ClinVar: RCV001035454, RCV001078188
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the c.1839C-G transversion (c.1839C-G, NM_018161.5) in the NADSYN1 gene, resulting in a tyr613-to-ter (Y613X) substitution, that was reported in compound heterozygous state in a patient (family 4) with vertebral, cardiac, renal, and limb abnormalities (VCRL3; 618845) by Szot et al. (2020), see 608285.0003. </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">
|
|
Hara, N., Yamada, K., Terashima, M., Osago, H., Shimoyama, M., Tsuchiya, M.
|
|
<strong>Molecular identification of human glutamine- and ammonia-dependent NAD synthetases: carbon-nitrogen hydrolase domain confers glutamine dependency.</strong>
|
|
J. Biol. Chem. 278: 10914-10921, 2003. Note: Erratum: J. Biol. Chem. 278: 41572 only, 2003.
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[PubMed: 12547821]
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[Full Text: https://doi.org/10.1074/jbc.M209203200]
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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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Stumpf, A. M.
|
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<strong>Personal Communication.</strong>
|
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Baltimore, Md. 04/10/2020.
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Szot, J. O., Campagnolo, C., Cao, Y., Iyer, K. B., Cuny, H., Drysdale, T., Flores-Daboub, J. A., Bi, W., Westerfield, L., Liu, P., Leung, T. N., Choy, K. W., Chapman, G., Xiao, R., Siu, V. M., Dunwoodie, S. L.
|
|
<strong>Bi-allelic mutations in NADSYN1 cause multiple organ defects and expand the genotypic spectrum of congenital NAD deficiency disorders.</strong>
|
|
Am. J. Hum. Genet. 106: 129-136, 2020.
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[PubMed: 31883644]
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[Full Text: https://doi.org/10.1016/j.ajhg.2019.12.006]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div class="row">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 04/10/2020
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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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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 11/25/2003
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</span>
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<div>
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alopez : 04/10/2020<br>carol : 06/25/2014<br>terry : 9/14/2012<br>alopez : 2/2/2009<br>mgross : 11/25/2003
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