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<title>
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Entry
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- *606389 - CATION CHANNEL, SPERM-ASSOCIATED, 1; CATSPER1
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- OMIM
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<p />
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*606389</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>
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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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
|
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<a href="/allelicVariants/606389">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000175294;t=ENST00000312106" 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=117144" 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=606389" 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=ENSG00000175294;t=ENST00000312106" 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_053054,XM_047426337,XM_047426338,XR_002957121" 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_053054" 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=606389" 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=09396&isoform_id=09396_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/CATSPER1" 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/16076816,21432087,22328126,119594894,119594895,221316609,296439381,2217281052,2217281055,2462522808,2462522811" 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/Q8NEC5" 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=117144" 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=ENSG00000175294;t=ENST00000312106" 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=CATSPER1" 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=CATSPER1" 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+117144" 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/CATSPER1" 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:117144" 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/117144" 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=ENST00000312106.6&hgg_start=66016752&hgg_end=66026479&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/catsper1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606389[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606389[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000175294" 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=CATSPER1" 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=CATSPER1" 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=CATSPER1" 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=CATSPER1&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/PA38438" 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:17116" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2179947" 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/CATSPER1#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:2179947" 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/117144/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=117144" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=CATSPER1&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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606389
|
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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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CATION CHANNEL, SPERM-ASSOCIATED, 1; CATSPER1
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</span>
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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CATSPER
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CATSPER1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CATSPER1</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>
|
|
Cytogenetic location: <a href="/geneMap/11/621?start=-3&limit=10&highlight=621">11q13.1</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:66016752-66026479&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'})">11:66,016,752-66,026,479</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
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>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/621?start=-3&limit=10&highlight=621">
|
|
11q13.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Spermatogenic failure 7
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/612997"> 612997 </a>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
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|
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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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<p>CATSPER is a sperm-specific ion channel that mediates calcium entry into sperm and is essential for sperm hyperactivated motility and male fertility. The CATSPER complex contains 4 pore-forming subunits, CATSPER1, CATSPER2 (<a href="/entry/607249">607249</a>), CATSPER3 (<a href="/entry/609120">609120</a>), and CATSPER4 (<a href="/entry/609121">609121</a>), and at least 2 auxiliary proteins, CATSPERB (<a href="/entry/611169">611169</a>) and CATSPERG (<a href="/entry/613452">613452</a>). Each pore-forming subunit has 6 transmembrane-spanning domains and an intracellular C-terminal coiled-coil domain. In addition, CATSPER1 has an intracellular N-terminal histidine-rich region. Both the pore-forming subunits and the auxiliary subunits of CATSPER localize to the sperm principal piece (review by <a href="#7" class="mim-tip-reference" title="Ren, D., Xia, J. <strong>Calcium signaling through CatSper channels in mammalian fertilization.</strong> Physiology 25: 165-175, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20551230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20551230</a>] [<a href="https://doi.org/10.1152/physiol.00049.2009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20551230">Ren and Xia, 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20551230" 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>While searching for calcium channels, <a href="#6" class="mim-tip-reference" title="Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E. <strong>A sperm ion channel required for sperm motility and male fertility.</strong> Nature 413: 603-609, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595941</a>] [<a href="https://doi.org/10.1038/35098027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11595941">Ren et al. (2001)</a> identified an EST cDNA expressed only in testis. They cloned the corresponding full-length cDNA from human and mouse testis by PCR and library screening. The CATSPER gene encodes a protein of 686 amino acids that is expressed exclusively in testis. The amino acid sequence of CATSPER most closely resembles a single 6-transmembrane-spanning repeat of the voltage-dependent calcium channel 4-repeat structure. Human CATSPER exhibits a high degree of homology (55% identity) with its mouse counterpart, especially in the transmembrane domains and histidine-rich region. The transmembrane domains share 81% identity and the pore regions 89% identity. Using immunofluorescence, <a href="#6" class="mim-tip-reference" title="Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E. <strong>A sperm ion channel required for sperm motility and male fertility.</strong> Nature 413: 603-609, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595941</a>] [<a href="https://doi.org/10.1038/35098027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11595941">Ren et al. (2001)</a> detected the expression of CATSPER within the principal piece of the sperm tail. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11595941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Kirichok, Y., Navarro, B., Clapham, D. E. <strong>Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca(2+) channel.</strong> Nature 439: 737-740, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16467839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16467839</a>] [<a href="https://doi.org/10.1038/nature04417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16467839">Kirichok et al. (2006)</a> used a simple approach to patch-clamp spermatozoa and to characterize whole-spermatozoan currents and identified a constitutively active flagellar calcium channel that is strongly potentiated by intracellular alkalinization. This current is not present in spermatozoa lacking the sperm-specific putative ion channel protein Catsper1. This plasma membrane protein of the 6 transmembrane-spanning ion channel superfamily is specifically localized to the principal piece of the sperm tail and is required for sperm cell hyperactivation and male fertility (<a href="#6" class="mim-tip-reference" title="Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E. <strong>A sperm ion channel required for sperm motility and male fertility.</strong> Nature 413: 603-609, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595941</a>] [<a href="https://doi.org/10.1038/35098027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11595941">Ren et al., 2001</a>; <a href="#2" class="mim-tip-reference" title="Carlson, A. E., Westenbroek, R. E., Quill, T., Ren, D., Clapham, D. E., Hille, B., Garbers, D. L., Babcock, D. F. <strong>CatSper1 required for evoked Ca(2+) entry and control of flagellar function in sperm.</strong> Proc. Nat. Acad. Sci. 100: 14864-14868, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14657352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14657352</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14657352[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.2536658100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14657352">Carlson et al., 2003</a>). <a href="#3" class="mim-tip-reference" title="Kirichok, Y., Navarro, B., Clapham, D. E. <strong>Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca(2+) channel.</strong> Nature 439: 737-740, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16467839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16467839</a>] [<a href="https://doi.org/10.1038/nature04417" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16467839">Kirichok et al. (2006)</a> concluded that their results identified Catsper1 as a component of the key flagellar calcium channel, and suggested that intracellular alkalinization potentiates Catsper current to increase intraflagellar calcium and induce sperm hyperactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11595941+14657352+16467839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Strunker, T., Goodwin, N., Brenker, C., Kashikar, N. D., Weyand, I., Seifert, R., Kaupp, U. B. <strong>The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm.</strong> Nature 471: 382-386, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21412338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21412338</a>] [<a href="https://doi.org/10.1038/nature09769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21412338">Strunker et al. (2011)</a> demonstrated that progesterone activates the sperm-specific, pH-sensitive CatSper calcium ion channel. They found that both progesterone and alkaline pH stimulate a rapid calcium ion influx with almost no latency, incompatible with a signaling pathway involving metabotrophic receptors and second messengers. The calcium ion signals evoked by alkaline pH and progesterone were inhibited by 2 Ca(V) channel blockers. Patch-clamp recordings from sperm revealed an alkaline-activated current carried by mono- and divalent ions that exhibited all the hallmarks of sperm-specific CatSper calcium ion channels. Progesterone substantially enhanced the CatSper current. The alkaline- and progesterone-activated CatSper current was inhibited by both Ca(V) channel blockers. <a href="#8" class="mim-tip-reference" title="Strunker, T., Goodwin, N., Brenker, C., Kashikar, N. D., Weyand, I., Seifert, R., Kaupp, U. B. <strong>The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm.</strong> Nature 471: 382-386, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21412338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21412338</a>] [<a href="https://doi.org/10.1038/nature09769" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21412338">Strunker et al. (2011)</a> concluded that their results resolved a long-standing controversy over the nongenomic progesterone signaling. In human sperm, either the CatSper channel itself or an associated protein serves as the nongenomic progesterone receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21412338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Lishko, P. V., Botchkina, I. L., Kirichok, Y. <strong>Progesterone activates the principal Ca2+ channel of human sperm.</strong> Nature 471: 387-391, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21412339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21412339</a>] [<a href="https://doi.org/10.1038/nature09767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21412339">Lishko et al. (2011)</a> elucidated the mechanism of the nongenomic action of progesterone on human spermatozoa by identifying the calcium ion channel activated by progesterone. By applying the patch-clamp technique to mature human spermatozoa, <a href="#4" class="mim-tip-reference" title="Lishko, P. V., Botchkina, I. L., Kirichok, Y. <strong>Progesterone activates the principal Ca2+ channel of human sperm.</strong> Nature 471: 387-391, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21412339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21412339</a>] [<a href="https://doi.org/10.1038/nature09767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21412339">Lishko et al. (2011)</a> found that nanomolar concentrations of progesterone dramatically potentiate CatSper, a pH-dependent calcium ion channel of the sperm flagellum. <a href="#4" class="mim-tip-reference" title="Lishko, P. V., Botchkina, I. L., Kirichok, Y. <strong>Progesterone activates the principal Ca2+ channel of human sperm.</strong> Nature 471: 387-391, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21412339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21412339</a>] [<a href="https://doi.org/10.1038/nature09767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21412339">Lishko et al. (2011)</a> demonstrated that human CatSper is synergistically activated by elevation of intracellular pH and extracellular progesterone. Interestingly, human CatSper can be further potentiated by prostaglandins, but apparently through a binding site other than that of progesterone. Because their experimental conditions did not support second messenger signaling, CatSper or a directly associated protein may serve as the elusive nongenomic progesterone receptor of sperm. Given that the CatSper-associated progesterone receptor is sperm-specific and structurally different from the genomic progesterone receptor (<a href="/entry/607311">607311</a>), it represents a promising target for the development of a new class of nonhormonal contraceptives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21412339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By mass spectrometric analysis of proteins that bound a biotin-tagged progesterone analog, <a href="#5" class="mim-tip-reference" title="Miller, M. R., Mannowetz, N., Iavarone, A. T., Safavi, R., Gracheva, E. O., Smith, J. F., Hill, R. Z., Bautista, D. M., Kirichok, Y., Lishko, P. V. <strong>Unconventional endocannabinoid signaling governs sperm activation via the sex hormone progesterone.</strong> Science 352: 555-559, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26989199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26989199</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26989199[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.aad6887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26989199">Miller et al. (2016)</a> determined that ABHD2 (<a href="/entry/612196">612196</a>) functions as the progesterone receptor in flagellum of human spermatozoa. Progesterone stimulated the lipid hydrolase activity of ABHD2, which catalyzed conversion of 2-arachidonoylglycerol (2AG) to arachidonic acid and glycerol. ABHD2-dependent depletion of 2AG in sperm membrane relieved inhibition of CATSPER1 by 2AG, resulting in calcium influx and sperm activation. In contrast, in mouse sperm flagellum, which has low resting AG levels, Catsper1 was not inhibited. Abhd2 was detected only in the acrosomal region of mouse sperm, and both progesterone and arachidonic acid stimulated the acrosome reaction in mouse sperm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26989199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H. <strong>Human male infertility caused by mutations in the CATSPER1 channel protein.</strong> Am. J. Hum. Genet. 84: 505-510, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344877</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344877[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344877">Avenarius et al. (2009)</a> noted that the CATSPER1 gene comprises 12 coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H. <strong>Human male infertility caused by mutations in the CATSPER1 channel protein.</strong> Am. J. Hum. Genet. 84: 505-510, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344877</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344877[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344877">Avenarius et al. (2009)</a> identified the CATSPER1 gene on chromosome 11q13.1 by genomic sequence analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344877" 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 3 infertile males with spermatogenic failure-7 (<a href="/entry/612997">612997</a>) from 2 consanguineous Iranian families, <a href="#1" class="mim-tip-reference" title="Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H. <strong>Human male infertility caused by mutations in the CATSPER1 channel protein.</strong> Am. J. Hum. Genet. 84: 505-510, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344877</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344877[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344877">Avenarius et al. (2009)</a> identified homozygosity for 1 of 2 separate insertion mutations in the CATSPER1 gene. CATSPER1 is one of 4 members of the sperm-specific CATSPER voltage-gated calcium channel family shown to be essential for normal male fertility in mice. The results suggested that CATSPER1 is also essential for normal male fertility in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344877" 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>To study its function in vivo, <a href="#6" class="mim-tip-reference" title="Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E. <strong>A sperm ion channel required for sperm motility and male fertility.</strong> Nature 413: 603-609, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595941</a>] [<a href="https://doi.org/10.1038/35098027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11595941">Ren et al. (2001)</a> disrupted mouse Catsper in embryonic stem cells by homologous recombination. Catsper homozygous-deficient mice were born at expected mendelian ratios and were indistinguishable from wildtype littermates in survival rates, appearance, and gross behavior. Homozygous-deficient females mated with heterozygous-deficient or wildtype males were fertile. Homozygous male mutants mated with wildtype females displayed mounting behavior indistinguishable from that of wildtype males but were completely infertile. Body and testis weights of the mutant mice were not different from those of wildtype counterparts; sperm counts were not significantly different, and sperm appeared morphologically similar. However, Catsper -/- sperm were sluggish and displayed less directed movements. Further investigation indicated that Catsper is required to penetrate the egg. Catsper -/- sperm incubated with zona pellucida-free eggs were able to fertilize the eggs, indicating that Catsper is not required for egg activation. <a href="#6" class="mim-tip-reference" title="Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E. <strong>A sperm ion channel required for sperm motility and male fertility.</strong> Nature 413: 603-609, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595941</a>] [<a href="https://doi.org/10.1038/35098027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11595941">Ren et al. (2001)</a> demonstrated that Catsper is required for cAMP-induced calcium influx. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11595941" 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=606389[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 SPERMATOGENIC FAILURE 7</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> rs193929390 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193929390;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/rs193929390?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=rs193929390" 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=rs193929390" 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 brothers from a consanguineous Iranian family with nonsyndromic infertility (SPGF7; <a href="/entry/612997">612997</a>), <a href="#1" class="mim-tip-reference" title="Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H. <strong>Human male infertility caused by mutations in the CATSPER1 channel protein.</strong> Am. J. Hum. Genet. 84: 505-510, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344877</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344877[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344877">Avenarius et al. (2009)</a> identified homozygosity for insertion of a thymine at nucleotide 539 in exon 1 of the CATSPER1 gene. This insertion was predicted to introduce 8 novel amino acids followed by a premature termination codon into the CATSPER1 protein (Lys180LysfsTer8). If the aberrant transcript is not subject to nonsense-mediated decay, a severely truncated 188-amino acid protein would be translated. This mutation was not identified in 576 Iranian control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344877" 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> rs193929391 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193929391;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/rs193929391?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=rs193929391" 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=rs193929391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a male from a consanguineous Iranian family with nonsyndromic infertility (<a href="/entry/612997">612997</a>), <a href="#1" class="mim-tip-reference" title="Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H. <strong>Human male infertility caused by mutations in the CATSPER1 channel protein.</strong> Am. J. Hum. Genet. 84: 505-510, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344877</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344877[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.03.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19344877">Avenarius et al. (2009)</a> identified homozygosity for a 5-bp insertion after nucleotide 948 in exon 1 of the CATSPER1 gene. The frameshift caused by this insertion was predicted to substitute a methionine at asp317 and introduce 18 novel residues before a premature stop codon (Asp317MetfsTer18). In the absence of nonsense-mediated decay, the predicted product would be a truncated 335-residue protein. The mutation was also found in homozygosity in 1 female family member. It was not identified in 576 Iranian control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344877" 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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Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H.
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<strong>Human male infertility caused by mutations in the CATSPER1 channel protein.</strong>
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Am. J. Hum. Genet. 84: 505-510, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19344877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19344877</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19344877[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19344877" 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.2009.03.004" target="_blank">Full Text</a>]
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Carlson, A. E., Westenbroek, R. E., Quill, T., Ren, D., Clapham, D. E., Hille, B., Garbers, D. L., Babcock, D. F.
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<strong>CatSper1 required for evoked Ca(2+) entry and control of flagellar function in sperm.</strong>
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Proc. Nat. Acad. Sci. 100: 14864-14868, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14657352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14657352</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14657352[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14657352" 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/10.1073/pnas.2536658100" target="_blank">Full Text</a>]
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Kirichok, Y., Navarro, B., Clapham, D. E.
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<strong>Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca(2+) channel.</strong>
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Nature 439: 737-740, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16467839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16467839</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16467839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature04417" target="_blank">Full Text</a>]
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Lishko, P. V., Botchkina, I. L., Kirichok, Y.
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<strong>Progesterone activates the principal Ca2+ channel of human sperm.</strong>
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Nature 471: 387-391, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21412339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21412339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21412339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature09767" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Miller2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Miller, M. R., Mannowetz, N., Iavarone, A. T., Safavi, R., Gracheva, E. O., Smith, J. F., Hill, R. Z., Bautista, D. M., Kirichok, Y., Lishko, P. V.
|
|
<strong>Unconventional endocannabinoid signaling governs sperm activation via the sex hormone progesterone.</strong>
|
|
Science 352: 555-559, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26989199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26989199</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26989199[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26989199" 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/10.1126/science.aad6887" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Ren2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E.
|
|
<strong>A sperm ion channel required for sperm motility and male fertility.</strong>
|
|
Nature 413: 603-609, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11595941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/35098027" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Ren2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Ren, D., Xia, J.
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<strong>Calcium signaling through CatSper channels in mammalian fertilization.</strong>
|
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Physiology 25: 165-175, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20551230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20551230</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20551230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1152/physiol.00049.2009" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Strunker2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Strunker, T., Goodwin, N., Brenker, C., Kashikar, N. D., Weyand, I., Seifert, R., Kaupp, U. B.
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<strong>The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm.</strong>
|
|
Nature 471: 382-386, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21412338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21412338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21412338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature09769" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 08/10/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 6/7/2011<br>Marla J. F. O'Neill - updated : 5/11/2011<br>Matthew B. Gross - updated : 3/28/2011<br>Ada Hamosh - updated : 8/25/2009<br>Ada Hamosh - updated : 5/26/2006
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 10/16/2001
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 07/26/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/10/2016<br>carol : 04/03/2015<br>alopez : 6/15/2011<br>terry : 6/7/2011<br>wwang : 5/12/2011<br>wwang : 5/12/2011<br>carol : 5/11/2011<br>mgross : 3/28/2011<br>mgross : 3/28/2011<br>alopez : 9/1/2009<br>terry : 8/25/2009<br>alopez : 6/7/2006<br>terry : 5/26/2006<br>mgross : 9/20/2002<br>alopez : 10/16/2001
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 606389
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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CATION CHANNEL, SPERM-ASSOCIATED, 1; CATSPER1
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CATSPER
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CATSPER1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 11q13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:66,016,752-66,026,479 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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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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11q13.1
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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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Spermatogenic failure 7
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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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612997
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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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Autosomal recessive
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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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3
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CATSPER is a sperm-specific ion channel that mediates calcium entry into sperm and is essential for sperm hyperactivated motility and male fertility. The CATSPER complex contains 4 pore-forming subunits, CATSPER1, CATSPER2 (607249), CATSPER3 (609120), and CATSPER4 (609121), and at least 2 auxiliary proteins, CATSPERB (611169) and CATSPERG (613452). Each pore-forming subunit has 6 transmembrane-spanning domains and an intracellular C-terminal coiled-coil domain. In addition, CATSPER1 has an intracellular N-terminal histidine-rich region. Both the pore-forming subunits and the auxiliary subunits of CATSPER localize to the sperm principal piece (review by Ren and Xia, 2010). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>While searching for calcium channels, Ren et al. (2001) identified an EST cDNA expressed only in testis. They cloned the corresponding full-length cDNA from human and mouse testis by PCR and library screening. The CATSPER gene encodes a protein of 686 amino acids that is expressed exclusively in testis. The amino acid sequence of CATSPER most closely resembles a single 6-transmembrane-spanning repeat of the voltage-dependent calcium channel 4-repeat structure. Human CATSPER exhibits a high degree of homology (55% identity) with its mouse counterpart, especially in the transmembrane domains and histidine-rich region. The transmembrane domains share 81% identity and the pore regions 89% identity. Using immunofluorescence, Ren et al. (2001) detected the expression of CATSPER within the principal piece of the sperm tail. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Kirichok et al. (2006) used a simple approach to patch-clamp spermatozoa and to characterize whole-spermatozoan currents and identified a constitutively active flagellar calcium channel that is strongly potentiated by intracellular alkalinization. This current is not present in spermatozoa lacking the sperm-specific putative ion channel protein Catsper1. This plasma membrane protein of the 6 transmembrane-spanning ion channel superfamily is specifically localized to the principal piece of the sperm tail and is required for sperm cell hyperactivation and male fertility (Ren et al., 2001; Carlson et al., 2003). Kirichok et al. (2006) concluded that their results identified Catsper1 as a component of the key flagellar calcium channel, and suggested that intracellular alkalinization potentiates Catsper current to increase intraflagellar calcium and induce sperm hyperactivation. </p><p>Strunker et al. (2011) demonstrated that progesterone activates the sperm-specific, pH-sensitive CatSper calcium ion channel. They found that both progesterone and alkaline pH stimulate a rapid calcium ion influx with almost no latency, incompatible with a signaling pathway involving metabotrophic receptors and second messengers. The calcium ion signals evoked by alkaline pH and progesterone were inhibited by 2 Ca(V) channel blockers. Patch-clamp recordings from sperm revealed an alkaline-activated current carried by mono- and divalent ions that exhibited all the hallmarks of sperm-specific CatSper calcium ion channels. Progesterone substantially enhanced the CatSper current. The alkaline- and progesterone-activated CatSper current was inhibited by both Ca(V) channel blockers. Strunker et al. (2011) concluded that their results resolved a long-standing controversy over the nongenomic progesterone signaling. In human sperm, either the CatSper channel itself or an associated protein serves as the nongenomic progesterone receptor. </p><p>Lishko et al. (2011) elucidated the mechanism of the nongenomic action of progesterone on human spermatozoa by identifying the calcium ion channel activated by progesterone. By applying the patch-clamp technique to mature human spermatozoa, Lishko et al. (2011) found that nanomolar concentrations of progesterone dramatically potentiate CatSper, a pH-dependent calcium ion channel of the sperm flagellum. Lishko et al. (2011) demonstrated that human CatSper is synergistically activated by elevation of intracellular pH and extracellular progesterone. Interestingly, human CatSper can be further potentiated by prostaglandins, but apparently through a binding site other than that of progesterone. Because their experimental conditions did not support second messenger signaling, CatSper or a directly associated protein may serve as the elusive nongenomic progesterone receptor of sperm. Given that the CatSper-associated progesterone receptor is sperm-specific and structurally different from the genomic progesterone receptor (607311), it represents a promising target for the development of a new class of nonhormonal contraceptives. </p><p>By mass spectrometric analysis of proteins that bound a biotin-tagged progesterone analog, Miller et al. (2016) determined that ABHD2 (612196) functions as the progesterone receptor in flagellum of human spermatozoa. Progesterone stimulated the lipid hydrolase activity of ABHD2, which catalyzed conversion of 2-arachidonoylglycerol (2AG) to arachidonic acid and glycerol. ABHD2-dependent depletion of 2AG in sperm membrane relieved inhibition of CATSPER1 by 2AG, resulting in calcium influx and sperm activation. In contrast, in mouse sperm flagellum, which has low resting AG levels, Catsper1 was not inhibited. Abhd2 was detected only in the acrosomal region of mouse sperm, and both progesterone and arachidonic acid stimulated the acrosome reaction in mouse sperm. </p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</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">
|
|
<p>Avenarius et al. (2009) noted that the CATSPER1 gene comprises 12 coding exons. </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>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
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</div>
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|
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<span class="mim-text-font">
|
|
<p>Avenarius et al. (2009) identified the CATSPER1 gene on chromosome 11q13.1 by genomic sequence analysis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</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 3 infertile males with spermatogenic failure-7 (612997) from 2 consanguineous Iranian families, Avenarius et al. (2009) identified homozygosity for 1 of 2 separate insertion mutations in the CATSPER1 gene. CATSPER1 is one of 4 members of the sperm-specific CATSPER voltage-gated calcium channel family shown to be essential for normal male fertility in mice. The results suggested that CATSPER1 is also essential for normal male fertility in humans. </p>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>To study its function in vivo, Ren et al. (2001) disrupted mouse Catsper in embryonic stem cells by homologous recombination. Catsper homozygous-deficient mice were born at expected mendelian ratios and were indistinguishable from wildtype littermates in survival rates, appearance, and gross behavior. Homozygous-deficient females mated with heterozygous-deficient or wildtype males were fertile. Homozygous male mutants mated with wildtype females displayed mounting behavior indistinguishable from that of wildtype males but were completely infertile. Body and testis weights of the mutant mice were not different from those of wildtype counterparts; sperm counts were not significantly different, and sperm appeared morphologically similar. However, Catsper -/- sperm were sluggish and displayed less directed movements. Further investigation indicated that Catsper is required to penetrate the egg. Catsper -/- sperm incubated with zona pellucida-free eggs were able to fertilize the eggs, indicating that Catsper is not required for egg activation. Ren et al. (2001) demonstrated that Catsper is required for cAMP-induced calcium influx. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<p />
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<h4>
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<span class="mim-font">
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<strong>.0001 SPERMATOGENIC FAILURE 7</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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CATSPER1, 1-BP INS, 539T
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<br />
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SNP: rs193929390,
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gnomAD: rs193929390,
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ClinVar: RCV000004650
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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 brothers from a consanguineous Iranian family with nonsyndromic infertility (SPGF7; 612997), Avenarius et al. (2009) identified homozygosity for insertion of a thymine at nucleotide 539 in exon 1 of the CATSPER1 gene. This insertion was predicted to introduce 8 novel amino acids followed by a premature termination codon into the CATSPER1 protein (Lys180LysfsTer8). If the aberrant transcript is not subject to nonsense-mediated decay, a severely truncated 188-amino acid protein would be translated. This mutation was not identified in 576 Iranian control individuals. </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 SPERMATOGENIC FAILURE 7</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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CATSPER1, 5-BP INS, 948ATGGC
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<br />
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SNP: rs193929391,
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gnomAD: rs193929391,
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ClinVar: RCV000004651
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a male from a consanguineous Iranian family with nonsyndromic infertility (612997), Avenarius et al. (2009) identified homozygosity for a 5-bp insertion after nucleotide 948 in exon 1 of the CATSPER1 gene. The frameshift caused by this insertion was predicted to substitute a methionine at asp317 and introduce 18 novel residues before a premature stop codon (Asp317MetfsTer18). In the absence of nonsense-mediated decay, the predicted product would be a truncated 335-residue protein. The mutation was also found in homozygosity in 1 female family member. It was not identified in 576 Iranian control individuals. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Avenarius, M. R., Hildebrand, M. S., Zhang, Y., Meyer, N. C., Smith, L. L. H., Kahrizi, K., Najmabadi, H., Smith, R. J. H.
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|
<strong>Human male infertility caused by mutations in the CATSPER1 channel protein.</strong>
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Am. J. Hum. Genet. 84: 505-510, 2009.
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[PubMed: 19344877]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.03.004]
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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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Carlson, A. E., Westenbroek, R. E., Quill, T., Ren, D., Clapham, D. E., Hille, B., Garbers, D. L., Babcock, D. F.
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<strong>CatSper1 required for evoked Ca(2+) entry and control of flagellar function in sperm.</strong>
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Proc. Nat. Acad. Sci. 100: 14864-14868, 2003.
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[PubMed: 14657352]
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[Full Text: https://doi.org/10.1073/pnas.2536658100]
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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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Kirichok, Y., Navarro, B., Clapham, D. E.
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<strong>Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca(2+) channel.</strong>
|
|
Nature 439: 737-740, 2006.
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[PubMed: 16467839]
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[Full Text: https://doi.org/10.1038/nature04417]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lishko, P. V., Botchkina, I. L., Kirichok, Y.
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<strong>Progesterone activates the principal Ca2+ channel of human sperm.</strong>
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Nature 471: 387-391, 2011.
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[PubMed: 21412339]
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[Full Text: https://doi.org/10.1038/nature09767]
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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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Miller, M. R., Mannowetz, N., Iavarone, A. T., Safavi, R., Gracheva, E. O., Smith, J. F., Hill, R. Z., Bautista, D. M., Kirichok, Y., Lishko, P. V.
|
|
<strong>Unconventional endocannabinoid signaling governs sperm activation via the sex hormone progesterone.</strong>
|
|
Science 352: 555-559, 2016.
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[PubMed: 26989199]
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[Full Text: https://doi.org/10.1126/science.aad6887]
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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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Ren, D., Navarro, B., Perez, G., Jackson, A. C., Hsu, S., Shi, Q., Tilly, J. L., Clapham, D. E.
|
|
<strong>A sperm ion channel required for sperm motility and male fertility.</strong>
|
|
Nature 413: 603-609, 2001.
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[PubMed: 11595941]
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[Full Text: https://doi.org/10.1038/35098027]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ren, D., Xia, J.
|
|
<strong>Calcium signaling through CatSper channels in mammalian fertilization.</strong>
|
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Physiology 25: 165-175, 2010.
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|
|
[PubMed: 20551230]
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[Full Text: https://doi.org/10.1152/physiol.00049.2009]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Strunker, T., Goodwin, N., Brenker, C., Kashikar, N. D., Weyand, I., Seifert, R., Kaupp, U. B.
|
|
<strong>The CatSper channel mediates progesterone-induced Ca2+ influx in human sperm.</strong>
|
|
Nature 471: 382-386, 2011.
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[PubMed: 21412338]
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[Full Text: https://doi.org/10.1038/nature09769]
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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 class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Patricia A. Hartz - updated : 08/10/2016<br>Ada Hamosh - updated : 6/7/2011<br>Marla J. F. O'Neill - updated : 5/11/2011<br>Matthew B. Gross - updated : 3/28/2011<br>Ada Hamosh - updated : 8/25/2009<br>Ada Hamosh - updated : 5/26/2006
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Ada Hamosh : 10/16/2001
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alopez : 07/26/2019<br>alopez : 08/10/2016<br>carol : 04/03/2015<br>alopez : 6/15/2011<br>terry : 6/7/2011<br>wwang : 5/12/2011<br>wwang : 5/12/2011<br>carol : 5/11/2011<br>mgross : 3/28/2011<br>mgross : 3/28/2011<br>alopez : 9/1/2009<br>terry : 8/25/2009<br>alopez : 6/7/2006<br>terry : 5/26/2006<br>mgross : 9/20/2002<br>alopez : 10/16/2001
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