2515 lines
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2515 lines
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Entry
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- *601999 - LIM HOMEOBOX GENE 1; LHX1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*601999</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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<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="#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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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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=ENSG00000273706;t=ENST00000614239" 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=3975" 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=601999" 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=ENSG00000273706;t=ENST00000614239" 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_005568,XM_047435966,XM_047435967" 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_005568" 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=601999" 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=09067&isoform_id=09067_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/LHX1" 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/549846,30410785,60416412,62020648,75517203,85565997,119577978,194390004,2217311702,2217311704,2462491198,2462491200,2462555123,2462555125" 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/P48742" 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=3975" 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=ENSG00000273706;t=ENST00000614239" 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=LHX1" 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=LHX1" 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+3975" 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/LHX1" 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/3975" 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=chr17&hgg_gene=ENST00000614239.1&hgg_start=36936785&hgg_end=36944612&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><a href="https://medlineplus.gov/genetics/gene/lhx1" 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=601999[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<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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<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=601999[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/LHX1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000273706" 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=LHX1" 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=LHX1&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/PA30364" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Animal Models</div>
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</a>
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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:6593" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0026411.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:99783" 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/LHX1#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:99783" 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/3975/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=3975" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003000;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003000 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003167;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003167 </a></div>
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<div><a href="https://zfin.org/ZDB-GENE-980526-116" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</a>
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<div><a href="https://reactome.org/content/query?q=LHX1&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>
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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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<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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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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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601999
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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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LIM HOMEOBOX GENE 1; LHX1
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<h4>
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<span class="mim-font">
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LIM1
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<br />
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=LHX1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LHX1</a></em></strong>
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</p>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/17/452?start=-3&limit=10&highlight=452">17q12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:36936785-36944612&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'})">17:36,936,785-36,944,612</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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</p>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<div class="mim-changed mim-change"><p>LIM genes, such as LHX1, constitute a large gene family whose gene products carry the LIM domain, a unique cysteine-rich zinc-binding domain. At least 40 members of this family have been identified in vertebrates and invertebrates, and are distributed into 4 groups according to the number of LIM domains and to the presence of domains such as homeodomains and kinase domains (summary by <a href="#1" class="mim-tip-reference" title="Bozzi, F., Bertuzzi, S., Strina, D., Giannetto, C., Vezzoni, P., Villa, A. <strong>The exon-intron structure of human LHX1 gene.</strong> Biochem. Biophys. Res. Commun. 229: 494-497, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954926</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954926">Bozzi et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8954926" 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></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="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Dong, W. F., Heng, H. H., Lowsky, R., Xu, Y., DeCoteau, J. F., Shi, X. M., Tsui, L. C., Minden, M. D. <strong>Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1.</strong> DNA Cell Biol. 16: 671-678, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9212161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9212161</a>] [<a href="https://doi.org/10.1089/dna.1997.16.671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9212161">Dong et al. (1997)</a> cloned a cDNA encoding the 384-amino acid LIM1 polypeptide. LIM1 gene expression was detected in human brain, thymus, and tonsillar tissue. They also observed LIM1 expression in 58% of acute myelogenous leukemia (AML; <a href="/entry/601626">601626</a>) cell lines studied and in 4 of 5 primary samples from chronic myeloid leukemia (CML; <a href="/entry/608232">608232</a>) patients in myeloid blast transformation. The expression pattern and structural characteristics of the LIM1 gene suggested that it encodes a transcriptional regulatory protein involved in control of differentiation and development of neural and lymphoid cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9212161" 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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<a id="geneFunction" class="mim-anchor"></a>
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<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p><a href="#10" class="mim-tip-reference" title="Tsuchida, T., Ensini, M., Morton, S. B., Baldassare, M., Edlund, T., Jessell, T. M., Pfaff, S. L. <strong>Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.</strong> Cell 79: 957-970, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7528105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7528105</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90027-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7528105">Tsuchida et al. (1994)</a> found that the combinatorial expression of 4 LIM genes, Isl1 (<a href="/entry/600366">600366</a>), Isl2 (<a href="/entry/609481">609481</a>), Lim1, and Lim3 (LHX3; <a href="/entry/600577">600577</a>), in the developing embryonic chicken defined subclasses of motor neurons that segregated into columns in the spinal cord and selected distinct axonal pathways. These genes were expressed prior to the formation of distinct motor axon pathways and before motor columns appeared. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7528105" 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="#7" class="mim-tip-reference" title="Kania, A., Johnson, R. L., Jessell, T. M. <strong>Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb.</strong> Cell 102: 161-173, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10943837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10943837</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)00022-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10943837">Kania et al. (2000)</a> showed that Lim1 and Lmx1b (<a href="/entry/602575">602575</a>) control the initial trajectory of motor axons in the developing mammalian limb. The expression of Lim1 by a lateral set of lateral motor column (LMC) neurons ensured that their axons selected a dorsal trajectory in the limb. In a complementary manner, the expression of Lmx1b by dorsal limb mesenchymal cells was shown to control the dorsal and ventral axonal trajectories of medial and lateral LMC neurons. In the absence of these 2 proteins, motor axons appeared to select dorsal and ventral trajectories at random. Thus, LIM homeodomain proteins act within motor neurons and cells that guide motor axons to establish the fidelity of a binary choice in axonal trajectory. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10943837" 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="mim-changed mim-change"><p>Nup133 (<a href="/entry/607613">607613</a>) and Seh1 (SEH1L; <a href="/entry/609263">609263</a>) are components of the Y-complex subassembly of the nuclear pore complex scaffold and are required for mouse embryonic stem cell (mESC) survival during neuroectodermal differentiation. By transcriptomic and RT-PCR analyses, <a href="#8" class="mim-tip-reference" title="Orniacki, C., Verrico, A., Pelletier, S., Souquet, B., Coulpier, F., Jourdren, L., Benetti, S., Doye, V. <strong>Y-complex nucleoporins independently contribute to nuclear pore assembly and gene regulation in neuronal progenitors.</strong> J. Cell Sci. 136: jcs261151, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37305998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37305998</a>] [<a href="https://doi.org/10.1242/jcs.261151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37305998">Orniacki et al. (2023)</a> observed misregulated Nup210l (<a href="/entry/621033">621033</a>) and Lhx1 expression in Nup133 -/- mESCs during early stages of neuroectodermal differentiation. Mutation analysis revealed a requirement for the middle domain of Nup133 in mESC differentiation, nuclear basket assembly in neural progenitors, and regulation of the Nup210l and Lhx1 genes. A 4-fold reduction of Nup133 levels in mESCs affected nuclear basket assembly but had no effect on Nup210l or Lhx1 expression. Seh1-deficient neural progenitors also exhibited altered Nup210l and Lhx1 expression, but they had only a mild reduction in nuclear pore density. The authors concluded that Nup133 and Seh1 have a shared function in Nup210l and Lhx1 regulation during neuroectodermal differentiation that is independent of nuclear pore basket integrity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37305998" 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></div>
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<p><a href="#1" class="mim-tip-reference" title="Bozzi, F., Bertuzzi, S., Strina, D., Giannetto, C., Vezzoni, P., Villa, A. <strong>The exon-intron structure of human LHX1 gene.</strong> Biochem. Biophys. Res. Commun. 229: 494-497, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954926</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954926">Bozzi et al. (1996)</a> determined the genomic structure of the human LHX1 gene, a member of the LIM/homeobox gene family. The transcript is assembled from 5 exons, which are separated by introns ranging in size from 93 bp to 2.3 kb. The 2 LIM domains are entirely contained in the first and second exons, while the homeodomain is split into exons 3 and 4. This structure closely parallels the organization of other mouse and human LHX genes whose genomic structure is known. An exception is the human ISL1 gene, whose homeodomain does not contain introns. <a href="#1" class="mim-tip-reference" title="Bozzi, F., Bertuzzi, S., Strina, D., Giannetto, C., Vezzoni, P., Villa, A. <strong>The exon-intron structure of human LHX1 gene.</strong> Biochem. Biophys. Res. Commun. 229: 494-497, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954926</a>] [<a href="https://doi.org/10.1006/bbrc.1996.1832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954926">Bozzi et al. (1996)</a> noted that an intron at the same position also occurs in the XLIM1 gene as well as in other homeobox genes, such as EVX1 (<a href="/entry/142996">142996</a>) and EVX2 (<a href="/entry/142991">142991</a>). The authors suggested that the intron insertion in an ancestral homeobox was an ancient event predating the divergence of amphibians and mammals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8954926" 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="mim-changed mim-change"><p><a href="#2" class="mim-tip-reference" title="Dong, W. F., Heng, H. H., Lowsky, R., Xu, Y., DeCoteau, J. F., Shi, X. M., Tsui, L. C., Minden, M. D. <strong>Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1.</strong> DNA Cell Biol. 16: 671-678, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9212161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9212161</a>] [<a href="https://doi.org/10.1089/dna.1997.16.671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9212161">Dong et al. (1997)</a> localized the human LHX1 gene to chromosome 11p13-p12 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9212161" 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></div>
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<p><a href="#4" class="mim-tip-reference" title="Fujii, T. A., Cvecklova, K., Gilbert, D. J., Copeland, N. G., Jenkins, d. A., Westphal, H. <strong>Genomic structure and chrosomal (sic) of the murine LIM class homeobox gene Lhx1.</strong> Mammalian Genome 9: 81-83, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9434953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9434953</a>] [<a href="https://doi.org/10.1007/s003359900686" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9434953">Fujii et al. (1998)</a> described the genomic organization of the mouse Lhx1 gene and its mapping to chromosome 11 in a region of homology to human chromosome 17q. This is obviously inconsistent with the mapping by <a href="#2" class="mim-tip-reference" title="Dong, W. F., Heng, H. H., Lowsky, R., Xu, Y., DeCoteau, J. F., Shi, X. M., Tsui, L. C., Minden, M. D. <strong>Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1.</strong> DNA Cell Biol. 16: 671-678, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9212161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9212161</a>] [<a href="https://doi.org/10.1089/dna.1997.16.671" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9212161">Dong et al. (1997)</a> to human chromosome 11p. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9212161+9434953" 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="mim-changed mim-change"><p><a href="#5" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 12/12/2024."None>Gross (2024)</a> mapped LHX1 the gene to chromosome 17q12 based on an alignment of the LXH1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC101674" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC101674</a>) with the genomic sequence (GRCh38).</p></div>
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<p>Human evolution is characterized by a dramatic increase in brain size and complexity. To probe its genetic basis, <a href="#3" class="mim-tip-reference" title="Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M., Wyckoff, G. J., Malcom, C. M., Lahn, B. T. <strong>Accelerated evolution of nervous system genes in the origin of Homo sapiens.</strong> Cell 119: 1027-1040, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15620360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15620360</a>] [<a href="https://doi.org/10.1016/j.cell.2004.11.040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15620360">Dorus et al. (2004)</a> examined the evolution of genes involved in diverse aspects of nervous system biology. These genes, including LHX1, displayed significantly higher rates of protein evolution in primates than in rodents. This trend was most pronounced for the subset of genes implicated in nervous system development. Moreover, within primates, the acceleration of protein evolution was most prominent in the lineage leading from ancestral primates to humans. <a href="#3" class="mim-tip-reference" title="Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M., Wyckoff, G. J., Malcom, C. M., Lahn, B. T. <strong>Accelerated evolution of nervous system genes in the origin of Homo sapiens.</strong> Cell 119: 1027-1040, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15620360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15620360</a>] [<a href="https://doi.org/10.1016/j.cell.2004.11.040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15620360">Dorus et al. (2004)</a> concluded that the phenotypic evolution of the human nervous system has a salient molecular correlate, i.e., accelerated evolution of the underlying genes, particularly those linked to nervous system development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15620360" 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 the mouse the Lhx1 gene is expressed in the primitive streak and prechordal mesoderm and later in the developing kidney and portions of the central nervous system. By a knockout experiment, <a href="#9" class="mim-tip-reference" title="Shawlot, W., Behringer, R. R. <strong>Requirement for Lim1 in head-organizer function.</strong> Nature 374: 425-430, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7700351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7700351</a>] [<a href="https://doi.org/10.1038/374425a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7700351">Shawlot and Behringer (1995)</a> showed that Lhx1 is an essential regulator of the vertebrate head organizer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7700351" 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="#6" class="mim-tip-reference" title="Hukriede, N. A., Tsang, T. E., Habas, R., Khoo, P.-L., Steiner, K., Weeks, D. L., Tam, P. P. L., Dawid, I. B. <strong>Conserved requirement of Lim1 function for cell movements during gastrulation.</strong> Dev. Cell 4: 83-94, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12530965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12530965</a>] [<a href="https://doi.org/10.1016/s1534-5807(02)00398-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12530965">Hukriede et al. (2003)</a> studied the development of mouse and Xenopus embryos deficient in Lim1. They concluded that a primary function of Lim1 is to enable proper cell movements during gastrulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12530965" 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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Bozzi, F., Bertuzzi, S., Strina, D., Giannetto, C., Vezzoni, P., Villa, A.
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<strong>The exon-intron structure of human LHX1 gene.</strong>
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Biochem. Biophys. Res. Commun. 229: 494-497, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954926/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954926</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8954926" 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/10.1006/bbrc.1996.1832" target="_blank">Full Text</a>]
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Dong, W. F., Heng, H. H., Lowsky, R., Xu, Y., DeCoteau, J. F., Shi, X. M., Tsui, L. C., Minden, M. D.
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<strong>Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1.</strong>
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DNA Cell Biol. 16: 671-678, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9212161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9212161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9212161" 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/10.1089/dna.1997.16.671" target="_blank">Full Text</a>]
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<a id="Dorus2004" class="mim-anchor"></a>
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Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M., Wyckoff, G. J., Malcom, C. M., Lahn, B. T.
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<strong>Accelerated evolution of nervous system genes in the origin of Homo sapiens.</strong>
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Cell 119: 1027-1040, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15620360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15620360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15620360" 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.cell.2004.11.040" target="_blank">Full Text</a>]
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<a id="Fujii1998" class="mim-anchor"></a>
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Fujii, T. A., Cvecklova, K., Gilbert, D. J., Copeland, N. G., Jenkins, d. A., Westphal, H.
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<strong>Genomic structure and chrosomal (sic) of the murine LIM class homeobox gene Lhx1.</strong>
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Mammalian Genome 9: 81-83, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9434953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9434953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9434953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359900686" target="_blank">Full Text</a>]
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<a id="Gross2024" class="mim-anchor"></a>
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<div class="mim-changed mim-change">
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/12/2024.
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Hukriede, N. A., Tsang, T. E., Habas, R., Khoo, P.-L., Steiner, K., Weeks, D. L., Tam, P. P. L., Dawid, I. B.
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<strong>Conserved requirement of Lim1 function for cell movements during gastrulation.</strong>
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Dev. Cell 4: 83-94, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12530965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12530965</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12530965" 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/s1534-5807(02)00398-2" target="_blank">Full Text</a>]
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<a id="Kania2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kania, A., Johnson, R. L., Jessell, T. M.
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<strong>Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb.</strong>
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Cell 102: 161-173, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10943837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10943837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10943837" 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/s0092-8674(00)00022-2" target="_blank">Full Text</a>]
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<a id="Orniacki2023" class="mim-anchor"></a>
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Orniacki, C., Verrico, A., Pelletier, S., Souquet, B., Coulpier, F., Jourdren, L., Benetti, S., Doye, V.
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<strong>Y-complex nucleoporins independently contribute to nuclear pore assembly and gene regulation in neuronal progenitors.</strong>
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J. Cell Sci. 136: jcs261151, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37305998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37305998</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37305998" 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/10.1242/jcs.261151" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Shawlot1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shawlot, W., Behringer, R. R.
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<strong>Requirement for Lim1 in head-organizer function.</strong>
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Nature 374: 425-430, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7700351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7700351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7700351" 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/10.1038/374425a0" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Tsuchida1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tsuchida, T., Ensini, M., Morton, S. B., Baldassare, M., Edlund, T., Jessell, T. M., Pfaff, S. L.
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<strong>Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.</strong>
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Cell 79: 957-970, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7528105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7528105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7528105" 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/10.1016/0092-8674(94)90027-2" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 12/12/2024
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 7/19/2005<br>Stylianos E. Antonarakis - updated : 1/10/2005<br>Patricia A. Hartz - updated : 6/7/2004<br>Stylianos E. Antonarakis - updated : 8/4/2000<br>Victor A. McKusick - edited : 3/10/1998<br>Victor A. McKusick - updated : 2/19/1998
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<a id="creationDate" 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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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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Ethylin Wang Jabs : 9/15/1997
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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alopez : 12/12/2024
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<span class="mim-text-font">
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mgross : 12/12/2024<br>carol : 04/20/2017<br>carol : 09/21/2016<br>mgross : 07/26/2007<br>terry : 6/22/2007<br>mgross : 7/19/2005<br>mgross : 1/10/2005<br>mgross : 6/11/2004<br>terry : 6/7/2004<br>terry : 3/19/2004<br>terry : 3/18/2004<br>alopez : 11/17/2003<br>mgross : 8/4/2000<br>psherman : 1/13/2000<br>terry : 3/10/1998<br>mark : 2/24/1998<br>terry : 2/19/1998<br>alopez : 9/25/1997<br>mark : 9/24/1997<br>mark : 9/24/1997
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<strong>*</strong> 601999
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<h3>
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LIM HOMEOBOX GENE 1; LHX1
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<em>Alternative titles; symbols</em>
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LIM1
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<strong><em>HGNC Approved Gene Symbol: LHX1</em></strong>
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Cytogenetic location: 17q12
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:36,936,785-36,944,612 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>TEXT</strong>
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<strong>Description</strong>
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<p>LIM genes, such as LHX1, constitute a large gene family whose gene products carry the LIM domain, a unique cysteine-rich zinc-binding domain. At least 40 members of this family have been identified in vertebrates and invertebrates, and are distributed into 4 groups according to the number of LIM domains and to the presence of domains such as homeodomains and kinase domains (summary by Bozzi et al., 1996). </p>
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<strong>Cloning and Expression</strong>
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<p>Dong et al. (1997) cloned a cDNA encoding the 384-amino acid LIM1 polypeptide. LIM1 gene expression was detected in human brain, thymus, and tonsillar tissue. They also observed LIM1 expression in 58% of acute myelogenous leukemia (AML; 601626) cell lines studied and in 4 of 5 primary samples from chronic myeloid leukemia (CML; 608232) patients in myeloid blast transformation. The expression pattern and structural characteristics of the LIM1 gene suggested that it encodes a transcriptional regulatory protein involved in control of differentiation and development of neural and lymphoid cells. </p>
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<strong>Gene Function</strong>
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<p>Tsuchida et al. (1994) found that the combinatorial expression of 4 LIM genes, Isl1 (600366), Isl2 (609481), Lim1, and Lim3 (LHX3; 600577), in the developing embryonic chicken defined subclasses of motor neurons that segregated into columns in the spinal cord and selected distinct axonal pathways. These genes were expressed prior to the formation of distinct motor axon pathways and before motor columns appeared. </p><p>Kania et al. (2000) showed that Lim1 and Lmx1b (602575) control the initial trajectory of motor axons in the developing mammalian limb. The expression of Lim1 by a lateral set of lateral motor column (LMC) neurons ensured that their axons selected a dorsal trajectory in the limb. In a complementary manner, the expression of Lmx1b by dorsal limb mesenchymal cells was shown to control the dorsal and ventral axonal trajectories of medial and lateral LMC neurons. In the absence of these 2 proteins, motor axons appeared to select dorsal and ventral trajectories at random. Thus, LIM homeodomain proteins act within motor neurons and cells that guide motor axons to establish the fidelity of a binary choice in axonal trajectory. </p><p>Nup133 (607613) and Seh1 (SEH1L; 609263) are components of the Y-complex subassembly of the nuclear pore complex scaffold and are required for mouse embryonic stem cell (mESC) survival during neuroectodermal differentiation. By transcriptomic and RT-PCR analyses, Orniacki et al. (2023) observed misregulated Nup210l (621033) and Lhx1 expression in Nup133 -/- mESCs during early stages of neuroectodermal differentiation. Mutation analysis revealed a requirement for the middle domain of Nup133 in mESC differentiation, nuclear basket assembly in neural progenitors, and regulation of the Nup210l and Lhx1 genes. A 4-fold reduction of Nup133 levels in mESCs affected nuclear basket assembly but had no effect on Nup210l or Lhx1 expression. Seh1-deficient neural progenitors also exhibited altered Nup210l and Lhx1 expression, but they had only a mild reduction in nuclear pore density. The authors concluded that Nup133 and Seh1 have a shared function in Nup210l and Lhx1 regulation during neuroectodermal differentiation that is independent of nuclear pore basket integrity. </p>
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<strong>Gene Structure</strong>
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<p>Bozzi et al. (1996) determined the genomic structure of the human LHX1 gene, a member of the LIM/homeobox gene family. The transcript is assembled from 5 exons, which are separated by introns ranging in size from 93 bp to 2.3 kb. The 2 LIM domains are entirely contained in the first and second exons, while the homeodomain is split into exons 3 and 4. This structure closely parallels the organization of other mouse and human LHX genes whose genomic structure is known. An exception is the human ISL1 gene, whose homeodomain does not contain introns. Bozzi et al. (1996) noted that an intron at the same position also occurs in the XLIM1 gene as well as in other homeobox genes, such as EVX1 (142996) and EVX2 (142991). The authors suggested that the intron insertion in an ancestral homeobox was an ancient event predating the divergence of amphibians and mammals. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<p>Dong et al. (1997) localized the human LHX1 gene to chromosome 11p13-p12 by fluorescence in situ hybridization. </p><p>Fujii et al. (1998) described the genomic organization of the mouse Lhx1 gene and its mapping to chromosome 11 in a region of homology to human chromosome 17q. This is obviously inconsistent with the mapping by Dong et al. (1997) to human chromosome 11p. </p><p>Gross (2024) mapped LHX1 the gene to chromosome 17q12 based on an alignment of the LXH1 sequence (GenBank BC101674) with the genomic sequence (GRCh38).</p>
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<h4>
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<strong>Evolution</strong>
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</span>
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</h4>
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<p>Human evolution is characterized by a dramatic increase in brain size and complexity. To probe its genetic basis, Dorus et al. (2004) examined the evolution of genes involved in diverse aspects of nervous system biology. These genes, including LHX1, displayed significantly higher rates of protein evolution in primates than in rodents. This trend was most pronounced for the subset of genes implicated in nervous system development. Moreover, within primates, the acceleration of protein evolution was most prominent in the lineage leading from ancestral primates to humans. Dorus et al. (2004) concluded that the phenotypic evolution of the human nervous system has a salient molecular correlate, i.e., accelerated evolution of the underlying genes, particularly those linked to nervous system development. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the mouse the Lhx1 gene is expressed in the primitive streak and prechordal mesoderm and later in the developing kidney and portions of the central nervous system. By a knockout experiment, Shawlot and Behringer (1995) showed that Lhx1 is an essential regulator of the vertebrate head organizer. </p><p>Hukriede et al. (2003) studied the development of mouse and Xenopus embryos deficient in Lim1. They concluded that a primary function of Lim1 is to enable proper cell movements during gastrulation. </p>
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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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Bozzi, F., Bertuzzi, S., Strina, D., Giannetto, C., Vezzoni, P., Villa, A.
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<strong>The exon-intron structure of human LHX1 gene.</strong>
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Biochem. Biophys. Res. Commun. 229: 494-497, 1996.
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[PubMed: 8954926]
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[Full Text: https://doi.org/10.1006/bbrc.1996.1832]
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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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Dong, W. F., Heng, H. H., Lowsky, R., Xu, Y., DeCoteau, J. F., Shi, X. M., Tsui, L. C., Minden, M. D.
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<strong>Cloning, expression, and chromosomal localization to 11p12-13 of a human LIM/HOMEOBOX gene, hLim-1.</strong>
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DNA Cell Biol. 16: 671-678, 1997.
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[PubMed: 9212161]
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[Full Text: https://doi.org/10.1089/dna.1997.16.671]
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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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Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M., Wyckoff, G. J., Malcom, C. M., Lahn, B. T.
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<strong>Accelerated evolution of nervous system genes in the origin of Homo sapiens.</strong>
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Cell 119: 1027-1040, 2004.
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[PubMed: 15620360]
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[Full Text: https://doi.org/10.1016/j.cell.2004.11.040]
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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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Fujii, T. A., Cvecklova, K., Gilbert, D. J., Copeland, N. G., Jenkins, d. A., Westphal, H.
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<strong>Genomic structure and chrosomal (sic) of the murine LIM class homeobox gene Lhx1.</strong>
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Mammalian Genome 9: 81-83, 1998.
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[PubMed: 9434953]
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[Full Text: https://doi.org/10.1007/s003359900686]
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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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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/12/2024.
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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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Hukriede, N. A., Tsang, T. E., Habas, R., Khoo, P.-L., Steiner, K., Weeks, D. L., Tam, P. P. L., Dawid, I. B.
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<strong>Conserved requirement of Lim1 function for cell movements during gastrulation.</strong>
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Dev. Cell 4: 83-94, 2003.
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[PubMed: 12530965]
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[Full Text: https://doi.org/10.1016/s1534-5807(02)00398-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kania, A., Johnson, R. L., Jessell, T. M.
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<strong>Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb.</strong>
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Cell 102: 161-173, 2000.
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[PubMed: 10943837]
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[Full Text: https://doi.org/10.1016/s0092-8674(00)00022-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Orniacki, C., Verrico, A., Pelletier, S., Souquet, B., Coulpier, F., Jourdren, L., Benetti, S., Doye, V.
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<strong>Y-complex nucleoporins independently contribute to nuclear pore assembly and gene regulation in neuronal progenitors.</strong>
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J. Cell Sci. 136: jcs261151, 2023.
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[PubMed: 37305998]
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[Full Text: https://doi.org/10.1242/jcs.261151]
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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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Shawlot, W., Behringer, R. R.
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<strong>Requirement for Lim1 in head-organizer function.</strong>
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Nature 374: 425-430, 1995.
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[PubMed: 7700351]
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[Full Text: https://doi.org/10.1038/374425a0]
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</p>
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<li>
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<p class="mim-text-font">
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Tsuchida, T., Ensini, M., Morton, S. B., Baldassare, M., Edlund, T., Jessell, T. M., Pfaff, S. L.
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<strong>Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.</strong>
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Cell 79: 957-970, 1994.
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[PubMed: 7528105]
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[Full Text: https://doi.org/10.1016/0092-8674(94)90027-2]
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</p>
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<br />
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div 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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Matthew B. Gross - updated : 12/12/2024<br>Patricia A. Hartz - updated : 7/19/2005<br>Stylianos E. Antonarakis - updated : 1/10/2005<br>Patricia A. Hartz - updated : 6/7/2004<br>Stylianos E. Antonarakis - updated : 8/4/2000<br>Victor A. McKusick - edited : 3/10/1998<br>Victor A. McKusick - updated : 2/19/1998
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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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Ethylin Wang Jabs : 9/15/1997
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Edit History:
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<span class="mim-text-font">
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alopez : 12/12/2024<br>mgross : 12/12/2024<br>carol : 04/20/2017<br>carol : 09/21/2016<br>mgross : 07/26/2007<br>terry : 6/22/2007<br>mgross : 7/19/2005<br>mgross : 1/10/2005<br>mgross : 6/11/2004<br>terry : 6/7/2004<br>terry : 3/19/2004<br>terry : 3/18/2004<br>alopez : 11/17/2003<br>mgross : 8/4/2000<br>psherman : 1/13/2000<br>terry : 3/10/1998<br>mark : 2/24/1998<br>terry : 2/19/1998<br>alopez : 9/25/1997<br>mark : 9/24/1997<br>mark : 9/24/1997
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