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Entry
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- *612625 - LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1
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- OMIM
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<p>
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<span class="h4">*612625</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="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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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="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612625">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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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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<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=ENSG00000168216;t=ENST00000649934" 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=55788" 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=612625" 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 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=ENSG00000168216;t=ENST00000649934" 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_001363722,NM_001367271,NM_001367272,NM_018368" 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_018368" 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=612625" 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=12877&isoform_id=12877_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/LMBRD1" 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/7023782,7582314,11640596,13445480,14714468,28436925,37548670,74752981,119569216,119569217,119569218,119569219,119569220,158261161,261878497,1393428283,1515261554,1515261556" 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/Q9NUN5" 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=55788" 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=ENSG00000168216;t=ENST00000649934" 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=LMBRD1" 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=LMBRD1" 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+55788" 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/LMBRD1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:55788" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/55788" 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=chr6&hgg_gene=ENST00000649934.3&hgg_start=69674010&hgg_end=69797010&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:23038" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/lmbrd1" 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=612625[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=612625[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/LMBRD1/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/ENSG00000168216" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=LMBRD1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=LMBRD1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=LMBRD1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://databases.lovd.nl/genomed/home.php?select_db=LMBRD1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=LMBRD1&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/PA134948847" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:23038" 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:1915671" 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/LMBRD1#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:1915671" 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/55788/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=55788" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041212-36" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55788" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=LMBRD1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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612625
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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LMBD1<br />
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NES-INTERACTING PROTEIN; NESI
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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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=LMBRD1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">LMBRD1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/6/630?start=-3&limit=10&highlight=630">6q13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:69674010-69797010&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'})">6:69,674,010-69,797,010</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/6/630?start=-3&limit=10&highlight=630">
|
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6q13
|
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Methylmalonic aciduria and homocystinuria, cblF type
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/277380"> 277380 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612625" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/612625" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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<p>LMBRD1 encodes a putative lysosomal cobalamin exporter (<a href="#4" class="mim-tip-reference" title="Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P. <strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong> Nature Genet. 41: 234-239, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>] [<a href="https://doi.org/10.1038/ng.294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136951">Rutsch et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" 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>Using a yeast 2-hybrid screen of a liver cDNA expression library to identify cellular factors that interact with the nuclear export signal (NES) at the C terminus of the large form of hepatitis delta antigen (HDAg-L), followed by RT-PCR and RACE, <a href="#6" class="mim-tip-reference" title="Wang, Y.-H., Chang, S. C., Huang, C., Li, Y.-P., Lee, C.-H., Chang, M.-F. <strong>Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.</strong> J. Virol. 79: 8113-8120, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15956556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15956556</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15956556[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/JVI.79.13.8113-8120.2005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15956556">Wang et al. (2005)</a> cloned LMBRD1, which they called NESI. The predicted 467-amino acid protein has a putative actin-binding site and a putative nuclear bipartite targeting signal. Northern blot analysis detected a 1.9-kb NESI transcript in a liver cell line and liver tissue, but not in other human tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15956556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P. <strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong> Nature Genet. 41: 234-239, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>] [<a href="https://doi.org/10.1038/ng.294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136951">Rutsch et al. (2009)</a> identified LMBRD1 as a candidate gene on chromosome 6 for the cblF inborn error of vitamin B12 metabolism (<a href="/entry/277380">277380</a>). The protein encoded by LMBRD1, which the authors called LMBD1, contains 540 amino acids and has a calculated molecular mass of 61.4 kD. It contains 9 predicted transmembrane domains and 6 putative N-glycosylation sites. In transfected HeLa cells and primary human fibroblasts, fluorescence-tagged LMBD1 exhibited a punctate distribution throughout the cytoplasm and perinuclear region that colocalized with a lysosomal marker. Electron microscopy and immunogold labeling showed that LMBD1 localized to the lysosomal membrane. Analysis of LMBD1 glycosylation status confirmed that LMBD1 has 9 transmembrane helices, with an N terminus in the lysosomal interior and a cytoplasmic C terminus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Tseng, L. T., Lin, C. L., Tzen, K. Y., Chang, S. C., Chang, M. F. <strong>LMBD1 protein serves as a specific adaptor for insulin receptor internalization.</strong> J. Biol. Chem. 288: 32424-32432, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24078630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24078630</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24078630[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M113.479527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24078630">Tseng et al. (2013)</a> stated that the predicted 540-amino acid human LMBD1 protein contains 9 transmembrane domains, 2 putative AP2 (see <a href="/entry/601024">601024</a>)-binding motifs, and a putative clathrin (see <a href="/entry/118955">118955</a>) box. Lmbd1 localized in multiple membrane-bound organelles, including the lysosome and plasma membrane, of HL-1 mouse cardiac muscle cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24078630" 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 whole-mount in situ hybridization, <a href="#1" class="mim-tip-reference" title="Buers, I., Pennekamp, P., Nitschke, Y., Lowe, C., Skryabin, B. V., Rutsch, F. <strong>Lmbrd1 expression is essential for the initiation of gastrulation.</strong> J. Cell. Molec. Med. 20: 1523-1533, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27061115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27061115</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27061115[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/jcmm.12844" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27061115">Buers et al. (2016)</a> found that Lmbrd1 was ubiquitously expressed in early mouse embryos, with strongest expression in primitive streak and in extraembryonic tissue at embryonic day 7.5 (E7.5). Lmbrd1 expression was highest in neuronal fold at E8.5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27061115" 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="#4" class="mim-tip-reference" title="Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P. <strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong> Nature Genet. 41: 234-239, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>] [<a href="https://doi.org/10.1038/ng.294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136951">Rutsch et al. (2009)</a> determined that the LMBRD1 gene contains 16 coding exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By genomic sequence analysis, <a href="#4" class="mim-tip-reference" title="Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P. <strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong> Nature Genet. 41: 234-239, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>] [<a href="https://doi.org/10.1038/ng.294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136951">Rutsch et al. (2009)</a> mapped the LMBRD1 gene to chromosome 6q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By coimmunoprecipitation and Western blot analysis, <a href="#6" class="mim-tip-reference" title="Wang, Y.-H., Chang, S. C., Huang, C., Li, Y.-P., Lee, C.-H., Chang, M.-F. <strong>Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.</strong> J. Virol. 79: 8113-8120, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15956556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15956556</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15956556[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/JVI.79.13.8113-8120.2005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15956556">Wang et al. (2005)</a> showed that NESI interacted with full-length HDAg-L containing NES. Immunofluorescence microscopy demonstrated colocalization of NESI and HDAg-L in nuclei of infected hepatocytes. NESI-antisense treatment blocked the release of hepatitis delta virus genomic RNA mediated by HDAg-L. <a href="#6" class="mim-tip-reference" title="Wang, Y.-H., Chang, S. C., Huang, C., Li, Y.-P., Lee, C.-H., Chang, M.-F. <strong>Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.</strong> J. Virol. 79: 8113-8120, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15956556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15956556</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15956556[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/JVI.79.13.8113-8120.2005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15956556">Wang et al. (2005)</a> proposed that NESI plays an important role in the formation of a functionally competent export/package complex of HDAg-L. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15956556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Tseng, L. T., Lin, C. L., Tzen, K. Y., Chang, S. C., Chang, M. F. <strong>LMBD1 protein serves as a specific adaptor for insulin receptor internalization.</strong> J. Biol. Chem. 288: 32424-32432, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24078630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24078630</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24078630[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M113.479527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24078630">Tseng et al. (2013)</a> found that glucose uptake was upregulated in Lmbrd1 +/- mice. However, Lmbrd1 +/- mice were unresponsive when additional insulin was administered, suggesting that the signal that caused the increase in glucose uptake resulted from a disturbance of insulin receptor (INSR; <a href="/entry/147670">147670</a>) signaling. Moreover, Lmbrd1 knockdown activated Insr signaling pathways in rat cardiomyocytes, suggesting that Lmbd1 participated in the regulation of Insr signaling. Further analysis showed that Lmbd1 selectively interacted with Insr to participate in the Insr internalization process. Lmbd1 interacted with AP2 to regulate insulin-induced clathrin-mediated endocytosis of Insr through its participation in clathrin-coated vesicles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24078630" 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 immunoprecipitation and confocal microscopy analyses in human hepatoma and embryonic kidney cells and Chinese hamster ovary cells, <a href="#3" class="mim-tip-reference" title="Kawaguchi, K., Okamoto, T., Morita, M., Imanaka, T. <strong>Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.</strong> Sci. Rep. 6: 30183, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27456980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27456980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27456980[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/srep30183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27456980">Kawaguchi et al. (2016)</a> demonstrated that ABCD4 (<a href="/entry/603214">603214</a>) interacted with LMBD1 and then localized to lysosomes in a manner dependent on the lysosome targeting ability of LMBD1. Knockout of LMBRD1 disturbed ABCD4 localization to lysosomes, but not to the endoplasmic reticulum (ER). <a href="#3" class="mim-tip-reference" title="Kawaguchi, K., Okamoto, T., Morita, M., Imanaka, T. <strong>Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.</strong> Sci. Rep. 6: 30183, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27456980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27456980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27456980[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/srep30183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27456980">Kawaguchi et al. (2016)</a> concluded that translocation of ABCD4 from the ER to lysosomes requires, at least in part, LMBD1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27456980" 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 12 unrelated patients with methylmalonic aciduria and homocystinuria type cblF (MAHCF; <a href="/entry/277380">277380</a>), <a href="#4" class="mim-tip-reference" title="Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P. <strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong> Nature Genet. 41: 234-239, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>] [<a href="https://doi.org/10.1038/ng.294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136951">Rutsch et al. (2009)</a> identified 5 different homozygous or compound heterozygous mutations in the LMBRD1 gene (<a href="#0001">612625.0001</a>-<a href="#0003">612625.0003</a>). A 1-bp deletion (<a href="#0001">612625.0001</a>) was present in 18 of the 24 disease chromosomes, consistent with a common founder of European ancestry. All mutations were truncating, but the phenotype was variable, ranging from developmental delay to asymptomatic long-term survival; thus there were no genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" 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="Buers, I., Pennekamp, P., Nitschke, Y., Lowe, C., Skryabin, B. V., Rutsch, F. <strong>Lmbrd1 expression is essential for the initiation of gastrulation.</strong> J. Cell. Molec. Med. 20: 1523-1533, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27061115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27061115</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27061115[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/jcmm.12844" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27061115">Buers et al. (2016)</a> found that homozygous loss of Lmbrd1 resulted in early embryonic lethality, whereas heterozygous mice were healthy and fertile. Whole-mount in situ hybridization analysis for Bmp4 (<a href="/entry/112262">112262</a>) and Nodal (<a href="/entry/601265">601265</a>) expression demonstrated that initial formation of the proximal-distal axis was unaffected by loss of Lmbrd1. However, expression of Evx1 (<a href="/entry/142996">142996</a>) and Fgf8 (<a href="/entry/600483">600483</a>) was strongly reduced in Lmbrd1 -/- mice, indicating perturbation of dorsal-ventral axis formation and initiation of gastrulation. <a href="#1" class="mim-tip-reference" title="Buers, I., Pennekamp, P., Nitschke, Y., Lowe, C., Skryabin, B. V., Rutsch, F. <strong>Lmbrd1 expression is essential for the initiation of gastrulation.</strong> J. Cell. Molec. Med. 20: 1523-1533, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27061115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27061115</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27061115[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/jcmm.12844" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27061115">Buers et al. (2016)</a> concluded that LMBRD1 function is essential for initiation of gastrulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27061115" 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>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#2" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human LMBRD1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs749272546 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs749272546;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs749272546?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs749272546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs749272546" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 7 patients with methylmalonic aciduria and homocystinuria type cblF (MAHCF; <a href="/entry/277380">277380</a>), <a href="#4" class="mim-tip-reference" title="Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P. <strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong> Nature Genet. 41: 234-239, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>] [<a href="https://doi.org/10.1038/ng.294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136951">Rutsch et al. (2009)</a> identified a homozygous 1-bp deletion (1056delG) in the LMBRD1 gene, resulting in a frameshift and premature termination. Four additional patients were compound heterozygous for the 1056delG mutation and another pathogenic mutation in the LMBRD1 gene (e.g., <a href="#0003">612625.0003</a>). The mutation was present in 18 of the 24 disease chromosomes, consistent with a common founder of European ancestry. The phenotype was variable, ranging from developmental delay to asymptomatic long-term survival. In vitro functional expression studies in patient cells showed that the biochemical defect could be rescued by transfection of the wildtype protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" 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 a Hispanic boy with methylmalonic aciduria and homocystinuria, type cblF (MAHCF; <a href="/entry/277380">277380</a>), <a href="#4" class="mim-tip-reference" title="Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P. <strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong> Nature Genet. 41: 234-239, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>] [<a href="https://doi.org/10.1038/ng.294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136951">Rutsch et al. (2009)</a> identified a homozygous 2-bp deletion (515delAC) in the LMBRD1 gene, resulting in a frameshift and premature termination. He was small for gestational age, had short stature, tracheoesophageal fistula, and a complex congenital heart defect, and died at age 9 months after cardiac surgery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" 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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<strong>.0003 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE</strong>
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<p>In a German boy with methylmalonic aciduria and homocystinuria type cblF (MAHCF; <a href="/entry/277380">277380</a>), <a href="#4" class="mim-tip-reference" title="Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P. <strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong> Nature Genet. 41: 234-239, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>] [<a href="https://doi.org/10.1038/ng.294" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19136951">Rutsch et al. (2009)</a> identified compound heterozygosity for a 1-bp deletion (404delC) in the LMBRD1 gene, resulting in a frameshift and premature termination, and the 1056delG mutation (<a href="#0001">612625.0001</a>). He had intrauterine growth retardation, was small for gestational age, and had feeding abnormalities. In vitro functional expression studies in patient cells showed that the biochemical defect could be rescued by transfection of the wildtype protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="Buers2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Buers, I., Pennekamp, P., Nitschke, Y., Lowe, C., Skryabin, B. V., Rutsch, F.
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<strong>Lmbrd1 expression is essential for the initiation of gastrulation.</strong>
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J. Cell. Molec. Med. 20: 1523-1533, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27061115/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27061115</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27061115[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27061115" 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/10.1111/jcmm.12844" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Dickinson2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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/nature19356" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Kawaguchi2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kawaguchi, K., Okamoto, T., Morita, M., Imanaka, T.
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<strong>Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.</strong>
|
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Sci. Rep. 6: 30183, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27456980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27456980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27456980[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27456980" 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/srep30183" target="_blank">Full Text</a>]
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Rutsch2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P.
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<strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong>
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Nature Genet. 41: 234-239, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19136951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19136951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19136951" 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/ng.294" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Tseng2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tseng, L. T., Lin, C. L., Tzen, K. Y., Chang, S. C., Chang, M. F.
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<strong>LMBD1 protein serves as a specific adaptor for insulin receptor internalization.</strong>
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J. Biol. Chem. 288: 32424-32432, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24078630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24078630</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24078630[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24078630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M113.479527" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Wang2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, Y.-H., Chang, S. C., Huang, C., Li, Y.-P., Lee, C.-H., Chang, M.-F.
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<strong>Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.</strong>
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J. Virol. 79: 8113-8120, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15956556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15956556</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15956556[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15956556" 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/10.1128/JVI.79.13.8113-8120.2005" target="_blank">Full Text</a>]
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</p>
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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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Bao Lige - updated : 05/06/2024
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Paul J. Converse - updated : 03/22/2017<br>Paul J. Converse - updated : 03/22/2017<br>Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 2/13/2009<br>Matthew B. Gross - updated : 2/12/2009
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse : 2/12/2009
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 05/06/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/08/2018<br>carol : 01/12/2018<br>mgross : 03/22/2017<br>mgross : 03/22/2017<br>mgross : 03/22/2017<br>mgross : 03/22/2017<br>alopez : 02/16/2017<br>carol : 09/12/2013<br>carol : 10/12/2012<br>wwang : 2/23/2009<br>ckniffin : 2/13/2009<br>mgross : 2/12/2009
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612625
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<div>
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<h3>
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<span class="mim-font">
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LMBR1 DOMAIN-CONTAINING PROTEIN 1: LMBRD1
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</h3>
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</div>
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<br />
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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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LMBD1<br />
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NES-INTERACTING PROTEIN; NESI
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: LMBRD1</em></strong>
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</span>
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<strong>
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<em>
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Cytogenetic location: 6q13
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:69,674,010-69,797,010 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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6q13
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</td>
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<td>
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<span class="mim-font">
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Methylmalonic aciduria and homocystinuria, cblF type
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</span>
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</td>
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<td>
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<span class="mim-font">
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277380
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>LMBRD1 encodes a putative lysosomal cobalamin exporter (Rutsch et al., 2009). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a yeast 2-hybrid screen of a liver cDNA expression library to identify cellular factors that interact with the nuclear export signal (NES) at the C terminus of the large form of hepatitis delta antigen (HDAg-L), followed by RT-PCR and RACE, Wang et al. (2005) cloned LMBRD1, which they called NESI. The predicted 467-amino acid protein has a putative actin-binding site and a putative nuclear bipartite targeting signal. Northern blot analysis detected a 1.9-kb NESI transcript in a liver cell line and liver tissue, but not in other human tissues examined. </p><p>Rutsch et al. (2009) identified LMBRD1 as a candidate gene on chromosome 6 for the cblF inborn error of vitamin B12 metabolism (277380). The protein encoded by LMBRD1, which the authors called LMBD1, contains 540 amino acids and has a calculated molecular mass of 61.4 kD. It contains 9 predicted transmembrane domains and 6 putative N-glycosylation sites. In transfected HeLa cells and primary human fibroblasts, fluorescence-tagged LMBD1 exhibited a punctate distribution throughout the cytoplasm and perinuclear region that colocalized with a lysosomal marker. Electron microscopy and immunogold labeling showed that LMBD1 localized to the lysosomal membrane. Analysis of LMBD1 glycosylation status confirmed that LMBD1 has 9 transmembrane helices, with an N terminus in the lysosomal interior and a cytoplasmic C terminus. </p><p>Tseng et al. (2013) stated that the predicted 540-amino acid human LMBD1 protein contains 9 transmembrane domains, 2 putative AP2 (see 601024)-binding motifs, and a putative clathrin (see 118955) box. Lmbd1 localized in multiple membrane-bound organelles, including the lysosome and plasma membrane, of HL-1 mouse cardiac muscle cells. </p><p>Using whole-mount in situ hybridization, Buers et al. (2016) found that Lmbrd1 was ubiquitously expressed in early mouse embryos, with strongest expression in primitive streak and in extraembryonic tissue at embryonic day 7.5 (E7.5). Lmbrd1 expression was highest in neuronal fold at E8.5. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
|
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</span>
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<p>Rutsch et al. (2009) determined that the LMBRD1 gene contains 16 coding exons. </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>By genomic sequence analysis, Rutsch et al. (2009) mapped the LMBRD1 gene to chromosome 6q13. </p>
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<strong>Gene Function</strong>
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<p>By coimmunoprecipitation and Western blot analysis, Wang et al. (2005) showed that NESI interacted with full-length HDAg-L containing NES. Immunofluorescence microscopy demonstrated colocalization of NESI and HDAg-L in nuclei of infected hepatocytes. NESI-antisense treatment blocked the release of hepatitis delta virus genomic RNA mediated by HDAg-L. Wang et al. (2005) proposed that NESI plays an important role in the formation of a functionally competent export/package complex of HDAg-L. </p><p>Tseng et al. (2013) found that glucose uptake was upregulated in Lmbrd1 +/- mice. However, Lmbrd1 +/- mice were unresponsive when additional insulin was administered, suggesting that the signal that caused the increase in glucose uptake resulted from a disturbance of insulin receptor (INSR; 147670) signaling. Moreover, Lmbrd1 knockdown activated Insr signaling pathways in rat cardiomyocytes, suggesting that Lmbd1 participated in the regulation of Insr signaling. Further analysis showed that Lmbd1 selectively interacted with Insr to participate in the Insr internalization process. Lmbd1 interacted with AP2 to regulate insulin-induced clathrin-mediated endocytosis of Insr through its participation in clathrin-coated vesicles. </p><p>Using immunoprecipitation and confocal microscopy analyses in human hepatoma and embryonic kidney cells and Chinese hamster ovary cells, Kawaguchi et al. (2016) demonstrated that ABCD4 (603214) interacted with LMBD1 and then localized to lysosomes in a manner dependent on the lysosome targeting ability of LMBD1. Knockout of LMBRD1 disturbed ABCD4 localization to lysosomes, but not to the endoplasmic reticulum (ER). Kawaguchi et al. (2016) concluded that translocation of ABCD4 from the ER to lysosomes requires, at least in part, LMBD1. </p>
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<strong>Molecular Genetics</strong>
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<p>In 12 unrelated patients with methylmalonic aciduria and homocystinuria type cblF (MAHCF; 277380), Rutsch et al. (2009) identified 5 different homozygous or compound heterozygous mutations in the LMBRD1 gene (612625.0001-612625.0003). A 1-bp deletion (612625.0001) was present in 18 of the 24 disease chromosomes, consistent with a common founder of European ancestry. All mutations were truncating, but the phenotype was variable, ranging from developmental delay to asymptomatic long-term survival; thus there were no genotype/phenotype correlations. </p>
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<strong>Animal Model</strong>
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<p>Buers et al. (2016) found that homozygous loss of Lmbrd1 resulted in early embryonic lethality, whereas heterozygous mice were healthy and fertile. Whole-mount in situ hybridization analysis for Bmp4 (112262) and Nodal (601265) expression demonstrated that initial formation of the proximal-distal axis was unaffected by loss of Lmbrd1. However, expression of Evx1 (142996) and Fgf8 (600483) was strongly reduced in Lmbrd1 -/- mice, indicating perturbation of dorsal-ventral axis formation and initiation of gastrulation. Buers et al. (2016) concluded that LMBRD1 function is essential for initiation of gastrulation. </p><p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human LMBRD1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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LMBRD1, 1-BP DEL, 1056G
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<br />
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SNP: rs749272546,
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gnomAD: rs749272546,
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ClinVar: RCV000210618, RCV000255705, RCV000778799, RCV002509305, RCV002517437, RCV004752799
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</span>
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<div>
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<span class="mim-text-font">
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<p>In 7 patients with methylmalonic aciduria and homocystinuria type cblF (MAHCF; 277380), Rutsch et al. (2009) identified a homozygous 1-bp deletion (1056delG) in the LMBRD1 gene, resulting in a frameshift and premature termination. Four additional patients were compound heterozygous for the 1056delG mutation and another pathogenic mutation in the LMBRD1 gene (e.g., 612625.0003). The mutation was present in 18 of the 24 disease chromosomes, consistent with a common founder of European ancestry. The phenotype was variable, ranging from developmental delay to asymptomatic long-term survival. In vitro functional expression studies in patient cells showed that the biochemical defect could be rescued by transfection of the wildtype protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LMBRD1, 2-BP DEL, 515AC
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<br />
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SNP: rs779151199,
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gnomAD: rs779151199,
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ClinVar: RCV000000546, RCV001818113, RCV004782001
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Hispanic boy with methylmalonic aciduria and homocystinuria, type cblF (MAHCF; 277380), Rutsch et al. (2009) identified a homozygous 2-bp deletion (515delAC) in the LMBRD1 gene, resulting in a frameshift and premature termination. He was small for gestational age, had short stature, tracheoesophageal fistula, and a complex congenital heart defect, and died at age 9 months after cardiac surgery. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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LMRBD1, 1-BP DEL, 404C
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<br />
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SNP: rs1562112641,
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ClinVar: RCV000000547
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a German boy with methylmalonic aciduria and homocystinuria type cblF (MAHCF; 277380), Rutsch et al. (2009) identified compound heterozygosity for a 1-bp deletion (404delC) in the LMBRD1 gene, resulting in a frameshift and premature termination, and the 1056delG mutation (612625.0001). He had intrauterine growth retardation, was small for gestational age, and had feeding abnormalities. In vitro functional expression studies in patient cells showed that the biochemical defect could be rescued by transfection of the wildtype protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Buers, I., Pennekamp, P., Nitschke, Y., Lowe, C., Skryabin, B. V., Rutsch, F.
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<strong>Lmbrd1 expression is essential for the initiation of gastrulation.</strong>
|
|
J. Cell. Molec. Med. 20: 1523-1533, 2016.
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[PubMed: 27061115]
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[Full Text: https://doi.org/10.1111/jcmm.12844]
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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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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: 27626380]
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[Full Text: https://doi.org/10.1038/nature19356]
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</li>
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<li>
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<p class="mim-text-font">
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Kawaguchi, K., Okamoto, T., Morita, M., Imanaka, T.
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<strong>Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.</strong>
|
|
Sci. Rep. 6: 30183, 2016. Note: Electronic Article.
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[PubMed: 27456980]
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[Full Text: https://doi.org/10.1038/srep30183]
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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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Rutsch, F., Gailus, S., Miousse, I. R., Suormala, T., Sagne, C., Toliat, M. R., Nurnberg, G., Wittkampf, T., Buers, I., Sharifi, A., Stucki, M., Becker, C., Baumgartner, M., Robenek, H., Marquardt, T., Hohne, W., Gasnier, B., Rosenblatt, D. S., Fowler, B., Nurnberg, P.
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<strong>Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.</strong>
|
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Nature Genet. 41: 234-239, 2009.
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[PubMed: 19136951]
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[Full Text: https://doi.org/10.1038/ng.294]
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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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Tseng, L. T., Lin, C. L., Tzen, K. Y., Chang, S. C., Chang, M. F.
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<strong>LMBD1 protein serves as a specific adaptor for insulin receptor internalization.</strong>
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J. Biol. Chem. 288: 32424-32432, 2013.
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[PubMed: 24078630]
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[Full Text: https://doi.org/10.1074/jbc.M113.479527]
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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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Wang, Y.-H., Chang, S. C., Huang, C., Li, Y.-P., Lee, C.-H., Chang, M.-F.
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<strong>Novel nuclear export signal-interacting protein, NESI, critical for the assembly of hepatitis delta virus.</strong>
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J. Virol. 79: 8113-8120, 2005.
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[PubMed: 15956556]
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[Full Text: https://doi.org/10.1128/JVI.79.13.8113-8120.2005]
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</ol>
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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 : 05/06/2024<br>Paul J. Converse - updated : 03/22/2017<br>Paul J. Converse - updated : 03/22/2017<br>Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 2/13/2009<br>Matthew B. Gross - updated : 2/12/2009
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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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Paul J. Converse : 2/12/2009
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mgross : 05/06/2024<br>carol : 02/08/2018<br>carol : 01/12/2018<br>mgross : 03/22/2017<br>mgross : 03/22/2017<br>mgross : 03/22/2017<br>mgross : 03/22/2017<br>alopez : 02/16/2017<br>carol : 09/12/2013<br>carol : 10/12/2012<br>wwang : 2/23/2009<br>ckniffin : 2/13/2009<br>mgross : 2/12/2009
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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