2133 lines
125 KiB
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2133 lines
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Entry
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- *616310 - RHO GTPase-ACTIVATING PROTEIN 11B; ARHGAP11B
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- OMIM
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<p>
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<span class="h4">*616310</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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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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<a href="#mapping">Mapping</a>
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<a href="#evolution">Evolution</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</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=ENSG00000285077;t=ENST00000697964" 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=89839" 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=616310" 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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<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=ENSG00000285077;t=ENST00000697964" 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_001039841,NR_148423" 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_001039841" 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=616310" 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 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://www.proteinatlas.org/search/ARHGAP11B" 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/76780189,89886350,121942629,1403730246" 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/Q3KRB8" 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 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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</a>
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</span>
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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=89839" 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=ENSG00000285077;t=ENST00000697964" 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=ARHGAP11B" 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=ARHGAP11B" 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+89839" 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/ARHGAP11B" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/89839" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr15&hgg_gene=ENST00000697964.2&hgg_start=30626128&hgg_end=30649229&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15782" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616310[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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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=616310[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/ENSG00000285077" 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.gwascentral.org/search?q=ARHGAP11B" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ARHGAP11B&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/PA134987257" 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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:15782" 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:2444300" 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/ARHGAP11B#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:2444300" 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/89839/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=89839" 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 style="display: table-cell;">Cellular Pathways</div>
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<div><a href="https://reactome.org/content/query?q=ARHGAP11B&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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<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 class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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616310
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RHO GTPase-ACTIVATING PROTEIN 11B; ARHGAP11B
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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FAMILY WITH SEQUENCE SIMILARITY 7, MEMBER B1; FAM7B1
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ARHGAP11B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ARHGAP11B</a></em></strong>
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<strong>
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Cytogenetic location: <a href="/geneMap/15/51?start=-3&limit=10&highlight=51">15q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:30626128-30649229&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">15:30,626,128-30,649,229</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Cortical expansion in humans has been linked to increased generation of basal progenitor cells from apical radial glia and their greater and prolonged proliferation, resulting in enlargement of the subventricular zone. By analyzing the transcriptomes of progenitor cell subpopulations from developing mouse and human neocortex, <a href="#1" class="mim-tip-reference" title="Florio, M., Albert, M., Taverna, E., Namba, T., Brandl, H., Lewitus, E., Haffner, C., Sykes, A., Wong, F. K., Peters, J., Guhr, E., Klemroth, S., Prufer, K., Kelso, J., Naumann, R., Nusslein, I., Dahl, A., Lachmann, R., Paabo, S., Huttner, W. B. <strong>Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.</strong> Science 347: 1465-1470, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25721503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25721503</a>] [<a href="https://doi.org/10.1126/science.aaa1975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25721503">Florio et al. (2015)</a> identified 56 human-specific genes that were preferentially expressed in apical and basal radial glia. Among these, ARHGAP11B showed the highest degree of radial glia-specific expression. The deduced 267-amino acid ARHGAP11B protein is a truncated version of ARHGAP11A (<a href="/entry/610589">610589</a>) that includes most of the GTPase-activating protein (GAP) domain (up to lys220), but it has a unique C-terminal 47 amino acids due to a frameshift. ARHGAP11B mRNA was highly expressed in both apical and basal radial glia, but it was virtually undetectable in cortical neurons and cortical plate, as confirmed by single-cell quantitative PCR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25721503" 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 immunofluorescence analysis, <a href="#3" class="mim-tip-reference" title="Namba, T., Doczi, J., Pinson, A., Xing, L., Kalebic, N., Wilsch-Brauninger, M., Long, K. R., Vaid, S., Lauer, J., Bogdanova, A., Borgonovo, B., Shevchenko, A., Keller, P., Drechsel, D., Kurzchalia, T., Wimberger, P., Chinopoulos, C., Huttner, W. B. <strong>Human-specific ARHGAP11B acts in mitochondria to expand neocortical progenitors by glutaminolysis.</strong> Neuron 105: 867-881, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883789</a>] [<a href="https://doi.org/10.1016/j.neuron.2019.11.027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31883789">Namba et al. (2020)</a> showed that human ARHGAP11B localized to mitochondria in transfected NIH3T3 cells and that the N-terminal mitochondrial targeting sequence of ARHGAP11B was required and sufficient for the localization. ARHGAP11B also localized to mitochondria in progenitors of fetal human neocortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883789" 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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<br />
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<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Gene Function</strong>
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<p>In contrast with full-length ARHGAP11A and its isolated GAP domain, <a href="#1" class="mim-tip-reference" title="Florio, M., Albert, M., Taverna, E., Namba, T., Brandl, H., Lewitus, E., Haffner, C., Sykes, A., Wong, F. K., Peters, J., Guhr, E., Klemroth, S., Prufer, K., Kelso, J., Naumann, R., Nusslein, I., Dahl, A., Lachmann, R., Paabo, S., Huttner, W. B. <strong>Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.</strong> Science 347: 1465-1470, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25721503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25721503</a>] [<a href="https://doi.org/10.1126/science.aaa1975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25721503">Florio et al. (2015)</a> found that ARHGAP11B exhibited no RhoGAP activity in a RhoA (<a href="/entry/165390">165390</a>)/Rho-kinase (ROCK1; <a href="/entry/601702">601702</a>)-based assay. ARHGAP11A truncated at lys220 also showed no RhoGAP activity. In utero electroporation of ARHGAP11B in mouse neocortex at embryonic day 13.5 (E13.5) increased basal, but not apical, progenitor mitosis, resulting in thickening of the subventricular zone and neocortical folding at E18.5, reminiscent of gyrification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25721503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Heide, M., Haffner, C., Murayama, A., Kurotaki, Y., Shinohara, H.,, Okano, H., Sasaki, E., Huttner, W. B. <strong>Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset.</strong> Science 369: 546-550, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32554627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32554627</a>] [<a href="https://doi.org/10.1126/science.abb2401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32554627">Heide et al. (2020)</a> found that transgenic expression of human ARHGAP11B under control of its own (human) promoter in fetal marmosets increased the numbers of basal radial glia progenitors in the marmoset outer subventricular zone, increased the numbers of upper-layer neurons, enlarged the neocortex, and induced neocortical folding. The results suggested that ARHGAP11B expression might be one of the causes of the more robust neocortex that characterizes human brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32554627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using embryonic mouse neocortex as a test system, <a href="#3" class="mim-tip-reference" title="Namba, T., Doczi, J., Pinson, A., Xing, L., Kalebic, N., Wilsch-Brauninger, M., Long, K. R., Vaid, S., Lauer, J., Bogdanova, A., Borgonovo, B., Shevchenko, A., Keller, P., Drechsel, D., Kurzchalia, T., Wimberger, P., Chinopoulos, C., Huttner, W. B. <strong>Human-specific ARHGAP11B acts in mitochondria to expand neocortical progenitors by glutaminolysis.</strong> Neuron 105: 867-881, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883789</a>] [<a href="https://doi.org/10.1016/j.neuron.2019.11.027" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31883789">Namba et al. (2020)</a> demonstrated that human ARHGAP11B increased the abundance and proliferation of basal progenitors (BPs). The ability to expand BPs by ARHGAP11B required its mitochondrial localization but was blocked by expression of excess Ant2 (SLC25A5; <a href="/entry/300150">300150</a>). ARHGAP11B bound directly to Ant2 via its GAP domain, inhibited Ant2 to delay the opening of the mitochondrial permeability transition pore, and thereby increased BP abundance. The C-terminal domain of ARHGAP11B was responsible for the inhibitory effect on Ant2 function and for the increase in BP abundance. In addition, glutaminolysis was essential for ARHGAP11B-induced BP expansion, as glutamine-to-glutamate conversion was required in the process. Delayed opening of the mitochondrial permeability transition pore induced by ARHGAP11B increased mitochondrial Ca(2+) levels, which in turn promoted glutaminolysis required for proliferation of BPs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883789" 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="Florio, M., Albert, M., Taverna, E., Namba, T., Brandl, H., Lewitus, E., Haffner, C., Sykes, A., Wong, F. K., Peters, J., Guhr, E., Klemroth, S., Prufer, K., Kelso, J., Naumann, R., Nusslein, I., Dahl, A., Lachmann, R., Paabo, S., Huttner, W. B. <strong>Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.</strong> Science 347: 1465-1470, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25721503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25721503</a>] [<a href="https://doi.org/10.1126/science.aaa1975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25721503">Florio et al. (2015)</a> determined that the ARHGAP11B gene contains 7 exons and spans 12.13 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25721503" 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="Florio, M., Albert, M., Taverna, E., Namba, T., Brandl, H., Lewitus, E., Haffner, C., Sykes, A., Wong, F. K., Peters, J., Guhr, E., Klemroth, S., Prufer, K., Kelso, J., Naumann, R., Nusslein, I., Dahl, A., Lachmann, R., Paabo, S., Huttner, W. B. <strong>Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.</strong> Science 347: 1465-1470, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25721503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25721503</a>] [<a href="https://doi.org/10.1126/science.aaa1975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25721503">Florio et al. (2015)</a> reported that the ARHGAP11B gene maps to chromosome 15q13.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25721503" 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="Florio, M., Albert, M., Taverna, E., Namba, T., Brandl, H., Lewitus, E., Haffner, C., Sykes, A., Wong, F. K., Peters, J., Guhr, E., Klemroth, S., Prufer, K., Kelso, J., Naumann, R., Nusslein, I., Dahl, A., Lachmann, R., Paabo, S., Huttner, W. B. <strong>Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.</strong> Science 347: 1465-1470, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25721503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25721503</a>] [<a href="https://doi.org/10.1126/science.aaa1975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25721503">Florio et al. (2015)</a> determined that ARHGAP11B arose from partial duplication of the ARHGAP11A gene in the human lineage after divergence from chimpanzees, but before divergence from Neandertals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25721503" 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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Florio, M., Albert, M., Taverna, E., Namba, T., Brandl, H., Lewitus, E., Haffner, C., Sykes, A., Wong, F. K., Peters, J., Guhr, E., Klemroth, S., Prufer, K., Kelso, J., Naumann, R., Nusslein, I., Dahl, A., Lachmann, R., Paabo, S., Huttner, W. B.
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<strong>Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.</strong>
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Science 347: 1465-1470, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25721503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25721503</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25721503" 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.aaa1975" target="_blank">Full Text</a>]
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Heide, M., Haffner, C., Murayama, A., Kurotaki, Y., Shinohara, H.,, Okano, H., Sasaki, E., Huttner, W. B.
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<strong>Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset.</strong>
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Science 369: 546-550, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32554627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32554627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32554627" 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.abb2401" target="_blank">Full Text</a>]
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Namba, T., Doczi, J., Pinson, A., Xing, L., Kalebic, N., Wilsch-Brauninger, M., Long, K. R., Vaid, S., Lauer, J., Bogdanova, A., Borgonovo, B., Shevchenko, A., Keller, P., Drechsel, D., Kurzchalia, T., Wimberger, P., Chinopoulos, C., Huttner, W. B.
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<strong>Human-specific ARHGAP11B acts in mitochondria to expand neocortical progenitors by glutaminolysis.</strong>
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Neuron 105: 867-881, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31883789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31883789</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31883789" 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.neuron.2019.11.027" target="_blank">Full Text</a>]
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Bao Lige - updated : 12/18/2020
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Bao Lige - updated : 09/08/2020
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Patricia A. Hartz : 4/10/2015
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mgross : 12/18/2020<br>mgross : 09/08/2020<br>mgross : 04/10/2015<br>mcolton : 4/10/2015
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RHO GTPase-ACTIVATING PROTEIN 11B; ARHGAP11B
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FAMILY WITH SEQUENCE SIMILARITY 7, MEMBER B1; FAM7B1
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Cytogenetic location: 15q13.2
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Cortical expansion in humans has been linked to increased generation of basal progenitor cells from apical radial glia and their greater and prolonged proliferation, resulting in enlargement of the subventricular zone. By analyzing the transcriptomes of progenitor cell subpopulations from developing mouse and human neocortex, Florio et al. (2015) identified 56 human-specific genes that were preferentially expressed in apical and basal radial glia. Among these, ARHGAP11B showed the highest degree of radial glia-specific expression. The deduced 267-amino acid ARHGAP11B protein is a truncated version of ARHGAP11A (610589) that includes most of the GTPase-activating protein (GAP) domain (up to lys220), but it has a unique C-terminal 47 amino acids due to a frameshift. ARHGAP11B mRNA was highly expressed in both apical and basal radial glia, but it was virtually undetectable in cortical neurons and cortical plate, as confirmed by single-cell quantitative PCR. </p><p>By immunofluorescence analysis, Namba et al. (2020) showed that human ARHGAP11B localized to mitochondria in transfected NIH3T3 cells and that the N-terminal mitochondrial targeting sequence of ARHGAP11B was required and sufficient for the localization. ARHGAP11B also localized to mitochondria in progenitors of fetal human neocortex. </p>
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<strong>Gene Function</strong>
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<p>In contrast with full-length ARHGAP11A and its isolated GAP domain, Florio et al. (2015) found that ARHGAP11B exhibited no RhoGAP activity in a RhoA (165390)/Rho-kinase (ROCK1; 601702)-based assay. ARHGAP11A truncated at lys220 also showed no RhoGAP activity. In utero electroporation of ARHGAP11B in mouse neocortex at embryonic day 13.5 (E13.5) increased basal, but not apical, progenitor mitosis, resulting in thickening of the subventricular zone and neocortical folding at E18.5, reminiscent of gyrification. </p><p>Heide et al. (2020) found that transgenic expression of human ARHGAP11B under control of its own (human) promoter in fetal marmosets increased the numbers of basal radial glia progenitors in the marmoset outer subventricular zone, increased the numbers of upper-layer neurons, enlarged the neocortex, and induced neocortical folding. The results suggested that ARHGAP11B expression might be one of the causes of the more robust neocortex that characterizes human brain. </p><p>Using embryonic mouse neocortex as a test system, Namba et al. (2020) demonstrated that human ARHGAP11B increased the abundance and proliferation of basal progenitors (BPs). The ability to expand BPs by ARHGAP11B required its mitochondrial localization but was blocked by expression of excess Ant2 (SLC25A5; 300150). ARHGAP11B bound directly to Ant2 via its GAP domain, inhibited Ant2 to delay the opening of the mitochondrial permeability transition pore, and thereby increased BP abundance. The C-terminal domain of ARHGAP11B was responsible for the inhibitory effect on Ant2 function and for the increase in BP abundance. In addition, glutaminolysis was essential for ARHGAP11B-induced BP expansion, as glutamine-to-glutamate conversion was required in the process. Delayed opening of the mitochondrial permeability transition pore induced by ARHGAP11B increased mitochondrial Ca(2+) levels, which in turn promoted glutaminolysis required for proliferation of BPs. </p>
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<strong>Gene Structure</strong>
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<p>Florio et al. (2015) determined that the ARHGAP11B gene contains 7 exons and spans 12.13 kb. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Florio et al. (2015) reported that the ARHGAP11B gene maps to chromosome 15q13.2. </p>
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<strong>Evolution</strong>
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<span class="mim-text-font">
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<p>Florio et al. (2015) determined that ARHGAP11B arose from partial duplication of the ARHGAP11A gene in the human lineage after divergence from chimpanzees, but before divergence from Neandertals. </p>
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<strong>REFERENCES</strong>
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Florio, M., Albert, M., Taverna, E., Namba, T., Brandl, H., Lewitus, E., Haffner, C., Sykes, A., Wong, F. K., Peters, J., Guhr, E., Klemroth, S., Prufer, K., Kelso, J., Naumann, R., Nusslein, I., Dahl, A., Lachmann, R., Paabo, S., Huttner, W. B.
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<strong>Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.</strong>
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Science 347: 1465-1470, 2015.
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[PubMed: 25721503]
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[Full Text: https://doi.org/10.1126/science.aaa1975]
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</li>
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<li>
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Heide, M., Haffner, C., Murayama, A., Kurotaki, Y., Shinohara, H.,, Okano, H., Sasaki, E., Huttner, W. B.
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<strong>Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset.</strong>
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Science 369: 546-550, 2020.
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[PubMed: 32554627]
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[Full Text: https://doi.org/10.1126/science.abb2401]
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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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Namba, T., Doczi, J., Pinson, A., Xing, L., Kalebic, N., Wilsch-Brauninger, M., Long, K. R., Vaid, S., Lauer, J., Bogdanova, A., Borgonovo, B., Shevchenko, A., Keller, P., Drechsel, D., Kurzchalia, T., Wimberger, P., Chinopoulos, C., Huttner, W. B.
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<strong>Human-specific ARHGAP11B acts in mitochondria to expand neocortical progenitors by glutaminolysis.</strong>
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Neuron 105: 867-881, 2020.
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[PubMed: 31883789]
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[Full Text: https://doi.org/10.1016/j.neuron.2019.11.027]
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</ol>
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 12/18/2020<br>Bao Lige - updated : 09/08/2020
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz : 4/10/2015
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mgross : 01/12/2021<br>mgross : 12/18/2020<br>mgross : 09/08/2020<br>mgross : 04/10/2015<br>mcolton : 4/10/2015
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