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<title>
Entry
- *606026 - NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER A; NELFA
- OMIM
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<span class="h4">*606026</span>
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<strong>Table of Contents</strong>
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<a href="#description">Description</a>
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Genome
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000185049;t=ENST00000382882" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=7469" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606026" 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><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000185049;t=ENST00000382882" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005663,XM_017008589" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_005663" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606026" 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><a href="https://hprd.org/summary?hprd_id=12080&isoform_id=12080_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>
<div><a href="https://www.proteinatlas.org/search/NELFA" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/protein/3860187,4406569,11527781,38114773,62897265,119602951,119602952,119602953,193785130,193785524,193787596,193788223,212276499,1523709029,2217351955,2462598830" 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.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000185049;t=ENST00000382882" 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>
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=NELFA" 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>
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=NELFA" 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>
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+7469" 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>
<dd><a href="http://v1.marrvel.org/search/gene/NELFA" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/7469" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr4&hgg_gene=ENST00000382882.9&hgg_start=1982723&hgg_end=2008974&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><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:12768" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606026[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=606026[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>
<div><a href="https://www.deciphergenomics.org/gene/NELFA/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000185049" 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>
<div><a href="https://www.ebi.ac.uk/gwas/search?query=NELFA" 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&nbsp;</a></div>
<div><a href="https://www.gwascentral.org/search?q=NELFA" 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&nbsp;</a></div>
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=NELFA&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>
<div><a href="https://www.pharmgkb.org/gene/PA37371" 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 id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
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<div><a href="https://www.alliancegenome.org/gene/HGNC:12768" 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:1346098" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
<div><a href="http://v1.marrvel.org/search/gene/NELFA#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>
<div><a href="http://www.informatics.jax.org/marker/MGI:1346098" 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>
<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>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/7469/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>
<div><a href="https://www.orthodb.org/?ncbi=7469" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
<div><a href="https://zfin.org/ZDB-GENE-030131-6400" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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&nbsp;
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7469" 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>
<div><a href="https://reactome.org/content/query?q=NELFA&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>
</div>
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<span>
<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.">
&nbsp;
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</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
&nbsp;
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
606026
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER A; NELFA
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
WHS CANDIDATE 2 GENE; WHSC2<br />
WOLF-HIRSCHHORN SYNDROME CANDIDATE 2<br />
NEGATIVE ELONGATION FACTOR POLYPEPTIDE A
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="approvedGeneSymbols" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NELFA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NELFA</a></em></strong>
</span>
</p>
</div>
<div>
<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/4/37?start=-3&limit=10&highlight=37">4p16.3</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:1982723-2008974&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'})">4:1,982,723-2,008,974</a> </span>
</em>
</strong>
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
</span>
</p>
</div>
<div>
</div>
<div>
<br />
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<a id="text" class="mim-anchor"></a>
<h4>
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<strong>TEXT</strong>
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<strong>Description</strong>
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<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>NELFA is a subunit of negative elongation factor (NELF), which also includes NELFB (<a href="/entry/611180">611180</a>), either NELFC or NELFD (NELFCD; <a href="/entry/605297">605297</a>), and NELFE (<a href="/entry/154040">154040</a>). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; <a href="/entry/603555">603555</a>) and SPT5 (SUPT5H; <a href="/entry/602102">602102</a>), to cause transcriptional pausing of RNA polymerase II (see <a href="/entry/180660">180660</a>) (<a href="#1" class="mim-tip-reference" title="Narita, T., Yamaguchi, Y., Yano, K., Sugimoto, S., Chanarat, S., Wada, T., Kim, D., Hasegawa, J., Omori, M., Inukai, N., Endoh, M., Yamada, T., Handa, H. &lt;strong&gt;Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex.&lt;/strong&gt; Molec. Cell. Biol. 23: 1863-1873, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612062/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612062&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12612062[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1128/MCB.23.6.1863-1873.2003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612062">Narita et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cloning" class="mim-anchor"></a>
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<strong>Cloning and Expression</strong>
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<p>Wolf-Hirschhorn syndrome (WHS; <a href="/entry/194190">194190</a>) is a contiguous gene syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). To identify genes that may contribute to this phenotype, <a href="#4" class="mim-tip-reference" title="Wright, T. J., Ricke, D. O., Denison, K., Abmayr, S., Cotter, P. D., Hirschhorn, K., Keinanen, M., McDonald-McGinn, D., Somer, M., Spinner, N., Yang-Feng, T., Zackai, E., Altherr, M. R. &lt;strong&gt;A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.&lt;/strong&gt; Hum. Molec. Genet. 6: 317-324, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9063753/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9063753&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/6.2.317&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9063753">Wright et al. (1997)</a> generated a transcript map of the 165-kb critical region and identified a number of potential genes. By analyzing a partial clone from this region, <a href="#3" class="mim-tip-reference" title="Wright, T. J., Costa, J. L., Naranjo, C., Francis-West, P., Altherr, M. R. &lt;strong&gt;Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region.&lt;/strong&gt; Genomics 59: 203-212, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10409432/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10409432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1999.5871&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10409432">Wright et al. (1999)</a> characterized a novel gene, which they designated Wolf-Hirschhorn syndrome candidate-2. WHSC2 encodes a deduced 528-amino acid protein with a predicted molecular mass of 57 kD. It contains a hydrophilic N terminus followed by a transmembrane region and a hydrophilic C terminus, and has 2 predicted nuclear localization signals. Northern blot analysis detected ubiquitous expression of a 2.4-kb transcript with a reduced level in adult lung relative to other tissues and higher levels in fetal than in adult tissues. <a href="#3" class="mim-tip-reference" title="Wright, T. J., Costa, J. L., Naranjo, C., Francis-West, P., Altherr, M. R. &lt;strong&gt;Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region.&lt;/strong&gt; Genomics 59: 203-212, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10409432/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10409432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1999.5871&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10409432">Wright et al. (1999)</a> also cloned mouse Whsc2 and determined that the deduced protein shares 93.3% sequence identity with the human protein and has a similar pattern of expression. In situ hybridization to mouse embryonic tissues revealed ubiquitous expression from 10.5 to 13.5 dpc. In an addendum, <a href="#3" class="mim-tip-reference" title="Wright, T. J., Costa, J. L., Naranjo, C., Francis-West, P., Altherr, M. R. &lt;strong&gt;Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region.&lt;/strong&gt; Genomics 59: 203-212, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10409432/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10409432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1999.5871&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10409432">Wright et al. (1999)</a> cited a personal communication from Y. Yamaguchi suggesting that the WHSC2 gene is a member of the NELF complex described by <a href="#6" class="mim-tip-reference" title="Yamaguchi, Y., Takagi, T., Wada, T., Yano, K., Furuya, A., Sugimoto, S., Hasegawa, J., Handa, H. &lt;strong&gt;NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation.&lt;/strong&gt; Cell 97: 41-51, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10199401/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10199401&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(00)80713-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10199401">Yamaguchi et al. (1999)</a>; see <a href="/entry/154040">154040</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10409432+9063753+10199401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="geneFunction" class="mim-anchor"></a>
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Function</strong>
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<p>NELFA shows limited sequence similarity to hepatitis delta antigen, the viral protein required for replication of hepatitis delta virus. <a href="#5" class="mim-tip-reference" title="Yamaguchi, Y., Filipovska, J., Yano, K., Furuya, A., Inukai, N., Narita, T., Wada, T., Sugimoto, S., Konarska, M. M., Handa, H. &lt;strong&gt;Stimulation of RNA polymerase II elongation by hepatitis delta antigen.&lt;/strong&gt; Science 293: 124-127, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11387440/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11387440&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1057925&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11387440">Yamaguchi et al. (2001)</a> showed that the hepatitis delta antigen binds RNA polymerase II directly and stimulates transcription by displacing NELF and promoting RNA polymerase II elongation. <a href="#5" class="mim-tip-reference" title="Yamaguchi, Y., Filipovska, J., Yano, K., Furuya, A., Inukai, N., Narita, T., Wada, T., Sugimoto, S., Konarska, M. M., Handa, H. &lt;strong&gt;Stimulation of RNA polymerase II elongation by hepatitis delta antigen.&lt;/strong&gt; Science 293: 124-127, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11387440/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11387440&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1057925&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11387440">Yamaguchi et al. (2001)</a> concluded that their results suggest that hepatitis delta antigen may regulate RNA polymerase II elongation during both cellular mRNA synthesis and hepatitis delta virus RNA replication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11387440" 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="#1" class="mim-tip-reference" title="Narita, T., Yamaguchi, Y., Yano, K., Sugimoto, S., Chanarat, S., Wada, T., Kim, D., Hasegawa, J., Omori, M., Inukai, N., Endoh, M., Yamada, T., Handa, H. &lt;strong&gt;Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex.&lt;/strong&gt; Molec. Cell. Biol. 23: 1863-1873, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12612062/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12612062&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12612062[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1128/MCB.23.6.1863-1873.2003&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12612062">Narita et al. (2003)</a> reconstituted an active NELF-like complex by overexpressing epitope-tagged NELFA, NELFB, NELFD, and NELFE in insect cells. They found that NELFB and NELFE interacted directly and that NELFD interacted directly with NELFA and NELFB, consistent with a model in which NELFB and NELFD (or NELFC) bring NELFA and NELFE together via 3 protein-protein interactions. All 4 NELF subunits were required for NELF function. NELFA was essential, but not sufficient, for NELF to cooperate with DSIF and repress transcriptional elongation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12612062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Narita, T., Yung, T. M. C., Yamamoto, J., Tsuboi, Y., Tanabe, H., Tanaka, K., Yamaguchi, Y., Handa, H. &lt;strong&gt;NELF interacts with CBC and participates in 3-prime end processing of replication-dependent histone mRNAs.&lt;/strong&gt; Molec. Cell 26: 349-365, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17499042/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17499042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.molcel.2007.04.011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17499042">Narita et al. (2007)</a> showed that NELF interacted with the nuclear cap-binding complex (CBC), which plays roles in several mRNA processing steps. The interaction was mediated by NELFE and the CBC subunit CBP80 (NCBP1; <a href="/entry/600469">600469</a>). Small interfering RNA-mediated knockdown of NELFE or CBP80 in HeLa cells reduced the protein levels of other NELF and CBC subunits, respectively, suggesting that free NELF and CBC subunits are unstable in the absence of the functional holocomplexes. Knockdown of NELFE or CBP80 also resulted in elevated levels of polyadenylated histone mRNAs. Chromatin immunoprecipitation analysis demonstrated that NELF and CBC associated with both the 5-prime and 3-prime regions of replication-dependent histone genes. Immunofluorescence and FISH localized NELF in HeLa cell nuclei, where it often colocalized with histone loci and Cajal bodies, and with cleavage bodies during S phase. <a href="#2" class="mim-tip-reference" title="Narita, T., Yung, T. M. C., Yamamoto, J., Tsuboi, Y., Tanabe, H., Tanaka, K., Yamaguchi, Y., Handa, H. &lt;strong&gt;NELF interacts with CBC and participates in 3-prime end processing of replication-dependent histone mRNAs.&lt;/strong&gt; Molec. Cell 26: 349-365, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17499042/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17499042&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.molcel.2007.04.011&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17499042">Narita et al. (2007)</a> concluded that NELF functions in histone mRNA maturation by associating with histone gene loci, Cajal bodies, and cleavage bodies in a temporally and spatially coordinated manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17499042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
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<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Narita2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Narita, T., Yamaguchi, Y., Yano, K., Sugimoto, S., Chanarat, S., Wada, T., Kim, D., Hasegawa, J., Omori, M., Inukai, N., Endoh, M., Yamada, T., Handa, H.
<strong>Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex.</strong>
Molec. Cell. Biol. 23: 1863-1873, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12612062/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12612062</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12612062[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=12612062" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1128/MCB.23.6.1863-1873.2003" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Narita2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Narita, T., Yung, T. M. C., Yamamoto, J., Tsuboi, Y., Tanabe, H., Tanaka, K., Yamaguchi, Y., Handa, H.
<strong>NELF interacts with CBC and participates in 3-prime end processing of replication-dependent histone mRNAs.</strong>
Molec. Cell 26: 349-365, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17499042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17499042</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17499042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.molcel.2007.04.011" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Wright1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wright, T. J., Costa, J. L., Naranjo, C., Francis-West, P., Altherr, M. R.
<strong>Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region.</strong>
Genomics 59: 203-212, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10409432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10409432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10409432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1999.5871" target="_blank">Full Text</a>]
</p>
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<li>
<a id="4" class="mim-anchor"></a>
<a id="Wright1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wright, T. J., Ricke, D. O., Denison, K., Abmayr, S., Cotter, P. D., Hirschhorn, K., Keinanen, M., McDonald-McGinn, D., Somer, M., Spinner, N., Yang-Feng, T., Zackai, E., Altherr, M. R.
<strong>A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.</strong>
Hum. Molec. Genet. 6: 317-324, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/6.2.317" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Yamaguchi2001" class="mim-anchor"></a>
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<p class="mim-text-font">
Yamaguchi, Y., Filipovska, J., Yano, K., Furuya, A., Inukai, N., Narita, T., Wada, T., Sugimoto, S., Konarska, M. M., Handa, H.
<strong>Stimulation of RNA polymerase II elongation by hepatitis delta antigen.</strong>
Science 293: 124-127, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11387440/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11387440</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11387440" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.1057925" target="_blank">Full Text</a>]
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<a id="Yamaguchi1999" class="mim-anchor"></a>
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Yamaguchi, Y., Takagi, T., Wada, T., Yano, K., Furuya, A., Sugimoto, S., Hasegawa, J., Handa, H.
<strong>NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation.</strong>
Cell 97: 41-51, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10199401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10199401</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10199401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0092-8674(00)80713-8" target="_blank">Full Text</a>]
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Patricia A. Hartz - updated : 7/6/2007
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Ada Hamosh - updated : 7/20/2001
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Carol A. Bocchini : 6/15/2001
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carol : 11/01/2019
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carol : 10/31/2019<br>carol : 06/10/2010<br>mgross : 7/9/2007<br>terry : 7/6/2007<br>alopez : 7/24/2001<br>terry : 7/20/2001<br>mcapotos : 6/20/2001<br>mcapotos : 6/18/2001<br>carol : 6/18/2001
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<span class="mim-font">
<strong>*</strong> 606026
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<span class="mim-font">
NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER A; NELFA
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
WHS CANDIDATE 2 GENE; WHSC2<br />
WOLF-HIRSCHHORN SYNDROME CANDIDATE 2<br />
NEGATIVE ELONGATION FACTOR POLYPEPTIDE A
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<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: NELFA</em></strong>
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<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: 4p16.3
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : 4:1,982,723-2,008,974 </span>
</em>
</strong>
<span class="small">(from NCBI)</span>
</span>
</p>
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<span class="mim-font">
<strong>TEXT</strong>
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<strong>Description</strong>
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<p>NELFA is a subunit of negative elongation factor (NELF), which also includes NELFB (611180), either NELFC or NELFD (NELFCD; 605297), and NELFE (154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; 603555) and SPT5 (SUPT5H; 602102), to cause transcriptional pausing of RNA polymerase II (see 180660) (Narita et al., 2003). </p>
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<strong>Cloning and Expression</strong>
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<p>Wolf-Hirschhorn syndrome (WHS; 194190) is a contiguous gene syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). To identify genes that may contribute to this phenotype, Wright et al. (1997) generated a transcript map of the 165-kb critical region and identified a number of potential genes. By analyzing a partial clone from this region, Wright et al. (1999) characterized a novel gene, which they designated Wolf-Hirschhorn syndrome candidate-2. WHSC2 encodes a deduced 528-amino acid protein with a predicted molecular mass of 57 kD. It contains a hydrophilic N terminus followed by a transmembrane region and a hydrophilic C terminus, and has 2 predicted nuclear localization signals. Northern blot analysis detected ubiquitous expression of a 2.4-kb transcript with a reduced level in adult lung relative to other tissues and higher levels in fetal than in adult tissues. Wright et al. (1999) also cloned mouse Whsc2 and determined that the deduced protein shares 93.3% sequence identity with the human protein and has a similar pattern of expression. In situ hybridization to mouse embryonic tissues revealed ubiquitous expression from 10.5 to 13.5 dpc. In an addendum, Wright et al. (1999) cited a personal communication from Y. Yamaguchi suggesting that the WHSC2 gene is a member of the NELF complex described by Yamaguchi et al. (1999); see 154040. </p>
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<h4>
<span class="mim-font">
<strong>Gene Function</strong>
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<p>NELFA shows limited sequence similarity to hepatitis delta antigen, the viral protein required for replication of hepatitis delta virus. Yamaguchi et al. (2001) showed that the hepatitis delta antigen binds RNA polymerase II directly and stimulates transcription by displacing NELF and promoting RNA polymerase II elongation. Yamaguchi et al. (2001) concluded that their results suggest that hepatitis delta antigen may regulate RNA polymerase II elongation during both cellular mRNA synthesis and hepatitis delta virus RNA replication. </p><p>Narita et al. (2003) reconstituted an active NELF-like complex by overexpressing epitope-tagged NELFA, NELFB, NELFD, and NELFE in insect cells. They found that NELFB and NELFE interacted directly and that NELFD interacted directly with NELFA and NELFB, consistent with a model in which NELFB and NELFD (or NELFC) bring NELFA and NELFE together via 3 protein-protein interactions. All 4 NELF subunits were required for NELF function. NELFA was essential, but not sufficient, for NELF to cooperate with DSIF and repress transcriptional elongation. </p><p>Narita et al. (2007) showed that NELF interacted with the nuclear cap-binding complex (CBC), which plays roles in several mRNA processing steps. The interaction was mediated by NELFE and the CBC subunit CBP80 (NCBP1; 600469). Small interfering RNA-mediated knockdown of NELFE or CBP80 in HeLa cells reduced the protein levels of other NELF and CBC subunits, respectively, suggesting that free NELF and CBC subunits are unstable in the absence of the functional holocomplexes. Knockdown of NELFE or CBP80 also resulted in elevated levels of polyadenylated histone mRNAs. Chromatin immunoprecipitation analysis demonstrated that NELF and CBC associated with both the 5-prime and 3-prime regions of replication-dependent histone genes. Immunofluorescence and FISH localized NELF in HeLa cell nuclei, where it often colocalized with histone loci and Cajal bodies, and with cleavage bodies during S phase. Narita et al. (2007) concluded that NELF functions in histone mRNA maturation by associating with histone gene loci, Cajal bodies, and cleavage bodies in a temporally and spatially coordinated manner. </p>
</span>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</div>
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<ol>
<li>
<p class="mim-text-font">
Narita, T., Yamaguchi, Y., Yano, K., Sugimoto, S., Chanarat, S., Wada, T., Kim, D., Hasegawa, J., Omori, M., Inukai, N., Endoh, M., Yamada, T., Handa, H.
<strong>Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex.</strong>
Molec. Cell. Biol. 23: 1863-1873, 2003.
[PubMed: 12612062]
[Full Text: https://doi.org/10.1128/MCB.23.6.1863-1873.2003]
</p>
</li>
<li>
<p class="mim-text-font">
Narita, T., Yung, T. M. C., Yamamoto, J., Tsuboi, Y., Tanabe, H., Tanaka, K., Yamaguchi, Y., Handa, H.
<strong>NELF interacts with CBC and participates in 3-prime end processing of replication-dependent histone mRNAs.</strong>
Molec. Cell 26: 349-365, 2007.
[PubMed: 17499042]
[Full Text: https://doi.org/10.1016/j.molcel.2007.04.011]
</p>
</li>
<li>
<p class="mim-text-font">
Wright, T. J., Costa, J. L., Naranjo, C., Francis-West, P., Altherr, M. R.
<strong>Comparative analysis of a novel gene from the Wolf-Hirschhorn/Pitt-Rogers-Danks syndrome critical region.</strong>
Genomics 59: 203-212, 1999.
[PubMed: 10409432]
[Full Text: https://doi.org/10.1006/geno.1999.5871]
</p>
</li>
<li>
<p class="mim-text-font">
Wright, T. J., Ricke, D. O., Denison, K., Abmayr, S., Cotter, P. D., Hirschhorn, K., Keinanen, M., McDonald-McGinn, D., Somer, M., Spinner, N., Yang-Feng, T., Zackai, E., Altherr, M. R.
<strong>A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.</strong>
Hum. Molec. Genet. 6: 317-324, 1997.
[PubMed: 9063753]
[Full Text: https://doi.org/10.1093/hmg/6.2.317]
</p>
</li>
<li>
<p class="mim-text-font">
Yamaguchi, Y., Filipovska, J., Yano, K., Furuya, A., Inukai, N., Narita, T., Wada, T., Sugimoto, S., Konarska, M. M., Handa, H.
<strong>Stimulation of RNA polymerase II elongation by hepatitis delta antigen.</strong>
Science 293: 124-127, 2001.
[PubMed: 11387440]
[Full Text: https://doi.org/10.1126/science.1057925]
</p>
</li>
<li>
<p class="mim-text-font">
Yamaguchi, Y., Takagi, T., Wada, T., Yano, K., Furuya, A., Sugimoto, S., Hasegawa, J., Handa, H.
<strong>NELF, a multisubunit complex containing RD, cooperates with DSIF to repress RNA polymerase II elongation.</strong>
Cell 97: 41-51, 1999.
[PubMed: 10199401]
[Full Text: https://doi.org/10.1016/s0092-8674(00)80713-8]
</p>
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<span class="mim-text-font">
Patricia A. Hartz - updated : 7/6/2007<br>Ada Hamosh - updated : 7/20/2001
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<span class="mim-text-font">
Carol A. Bocchini : 6/15/2001
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carol : 11/01/2019<br>carol : 10/31/2019<br>carol : 06/10/2010<br>mgross : 7/9/2007<br>terry : 7/6/2007<br>alopez : 7/24/2001<br>terry : 7/20/2001<br>mcapotos : 6/20/2001<br>mcapotos : 6/18/2001<br>carol : 6/18/2001
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