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<h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">Bloom-Syndrom-Protein</span></h1>
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<div id="mw-content-text" class="mw-body-content mw-content-ltr" lang="de" dir="ltr"><div class="mw-content-ltr mw-parser-output" lang="de" dir="ltr"><table class="wikitable hintergrundfarbe-basis infobox float-right" id="Vorlage_Infobox_Protein_" style="font-size:90%; margin-top:0; width:350px;" summary="Infobox Protein">
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<th colspan="3" style="background:#90EE90; color:#202122;">Bloom-Syndrom-Protein
</th></tr>
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<td colspan="3" class="hintergrundfarbe1" style="font-size:smaller;">
<p>Vorhandene Strukturdaten: <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/2KV2">2KV2</a></span>, <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/2MH9">2MH9</a></span>, <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/2RRD">2RRD</a></span>, <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/3WE2">3WE2</a></span>, <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/3WE3">3WE3</a></span>, <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/4CDG">4CDG</a></span>, <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/4CGZ">4CGZ</a></span>, <span class=""><a rel="nofollow" class="external text" href="https://www.rcsb.org/structure/4O3M">4O3M</a></span>
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<th colspan="3" style="background:#90EE90; color:#202122;;">Eigenschaften des menschlichen Proteins
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<td><a href="Molare_Masse" title="Molare Masse">Masse</a>/Länge <a href="Prim%C3%A4rstruktur" title="Primärstruktur">Primärstruktur</a>
</td>
<td colspan="2" style="text-align:center;">1417 Aminosäuren
</td></tr>
<tr>
<td><a href="Koenzym" class="mw-redirect" title="Koenzym">Kofaktor</a>
</td>
<td colspan="2" style="text-align:center;">Mg<sup>2+</sup>
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<tr>
<th colspan="3" style="background:#90EE90; color:#202122;">Bezeichner
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<td><a href="Human_Genome_Organisation" title="Human Genome Organisation">Gen-Name</a>
</td>
<td colspan="2" class="" style="text-align:center;"><i><a rel="nofollow" class="external text" href="https://www.genenames.org/tools/search/#!/all?query=1058">BLM</a></i>
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<td>Externe IDs
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<td colspan="2" class="">
<ul><li><a href="Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/omim/604610">604610</a></li>
<li><a href="UniProt" title="UniProt">UniProt</a> <a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprotkb/P54132">P54132</a></li>
<li><a href="Mouse_Genome_Informatics" title="Mouse Genome Informatics">MGI</a>: <a rel="nofollow" class="external text" href="https://www.informatics.jax.org/marker/MGI:1328362">1328362</a></li></ul>
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<th colspan="3" style="background:#90EE90; color:#202122;">Enzymklassifikation
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<td><a href="EC-Nummer" title="EC-Nummer">EC, Kategorie</a>
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<td colspan="2" class="" style="text-align:center;"><a rel="nofollow" class="external text" href="https://www.brenda-enzymes.org/enzyme.php?ecno=3.6.4.12">3.6.4.12</a>, <a href="Helikase" class="mw-redirect" title="Helikase">Helikase</a>
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<tr>
<td>Substrat
</td>
<td colspan="2" style="text-align:center;">verdrillte DNA + ATP + H<sub>2</sub>O
</td></tr>
<tr>
<td>Produkte
</td>
<td colspan="2" style="text-align:center;">entdrillte DNA + ADP + Pi
</td></tr>
<tr>
<th colspan="3" style="background:#90EE90; color:#202122;">Vorkommen
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<td style="background:#C3FDB8; color:#202122;">Homologie-Familie
</td>
<td colspan="2" style="text-align:center;"><a rel="nofollow" class="external text" href="http://hogenom.univ-lyon1.fr/query_sequence?seq=P54132">Hovergen</a>
</td></tr>
<tr>
<td style="background:#C3FDB8; color:#202122;">Übergeordnetes <a href="Taxon" title="Taxon">Taxon</a>
</td>
<td colspan="2" style="text-align:center;"><a href="Lebewesen" title="Lebewesen">Lebewesen</a><sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup>
</td></tr>
<tr>
<td colspan="3" style="background:#90EE90; color:#202122; text-align:center;"><a href="Homologie_(Genetik)#Homologie_zwischen_verdoppelten_oder_fremden_Genen" title="Homologie (Genetik)">Orthologe</a>
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<td style="background:#C3FDB8; color:#202122;">
</td>
<td style="background:#C3FDB8; color:#202122; text-align:center;">Mensch
</td>
<td style="background:#C3FDB8; color:#202122; text-align:center;">Hausmaus
</td></tr>
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<td style="background:#C3FDB8; color:#202122;"><a href="Entrez_Gene" title="Entrez Gene">Entrez</a>
</td>
<td><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=641&rn=1">641</a></span>
</td>
<td><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=12144&rn=1">12144</a></span>
</td></tr>
<tr>
<td style="background:#C3FDB8; color:#202122;"><a href="Ensembl" title="Ensembl">Ensembl</a>
</td>
<td><span class=""><small><small><a rel="nofollow" class="external text" href="http://www.ensembl.org/Homo_sapiens/geneview?gene=ENSG00000197299;db=core">ENSG00000197299</a></small></small></span>
</td>
<td><span class=""><small><small><a rel="nofollow" class="external text" href="http://www.ensembl.org/Mus_musculus/geneview?gene=ENSMUSG00000030528;db=core">ENSMUSG00000030528</a></small></small></span>
</td></tr>
<tr>
<td style="background:#C3FDB8; color:#202122;"><a href="UniProt" title="UniProt">UniProt</a>
</td>
<td><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprotkb/P54132">P54132</a>
</td>
<td><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprotkb/O88700">O88700</a>
</td></tr>
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<td style="background:#C3FDB8; color:#202122;"><a href="National_Center_for_Biotechnology_Information" title="National Center for Biotechnology Information">Refseq</a> (mRNA)
</td>
<td><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_000057">NM_000057</a>
</td>
<td><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001042527">NM_001042527</a>
</td></tr>
<tr>
<td style="background:#C3FDB8; color:#202122;"><a href="National_Center_for_Biotechnology_Information" title="National Center for Biotechnology Information">Refseq</a> (Protein)
</td>
<td><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_000048">NP_000048</a>
</td>
<td><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001035992">NP_001035992</a>
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<tr>
<td style="background:#C3FDB8; color:#202122;"><a href="Genlocus" title="Genlocus">Genlocus</a>
</td>
<td><span class=""> <a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human?db=hg38&position=chr15:90717327-90816165">Chr 15: 90.72 – 90.82 Mb</a> </span>
</td>
<td><span class=""> <a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=mm10&position=chr7:80454993-80535119">Chr 7: 80.45 – 80.54 Mb</a> </span>
</td></tr>
<tr>
<td style="background:#C3FDB8; color:#202122;"><a href="PubMed" title="PubMed">PubMed</a>-Suche
</td>
<td><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=641">641</a></span>
</td>
<td><span class=""><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=12144">12144</a></span>
<p><span class="editoronly" style="display:none;"></span>
</p>
</td></tr></tbody></table><p><span class="editoronly" style="display:none;"></span>
</p><p>Das <b>Bloom-Syndrom-Protein (RecQ2)</b> ist ein <a href="Enzym" title="Enzym">Enzym</a>, das in vielen Lebewesen im <a href="Zellkern" title="Zellkern">Zellkern</a> vorkommt. Es ist Teil des Mechanismus, der <a href="DNA" class="mw-redirect" title="DNA">DNA</a>-Schäden feststellt und die <a href="DNA-Reparatur" title="DNA-Reparatur">DNA-Reparatur</a> einleitet. <a href="Mutation" title="Mutation">Mutationen</a> im <i>BLM</i>-<a href="Gen" title="Gen">Gen</a> sind Ursache für das <a href="Bloom-Syndrom" title="Bloom-Syndrom">Bloom-Syndrom</a>, eine seltene <a href="Erbkrankheit" title="Erbkrankheit">Erbkrankheit</a>. RecQ2 gehört zu den DEAD-Box-Helikasen und bindet an <a href="G-Quadruplex" title="G-Quadruplex">G-Quadruplexe</a>.
</p><p>Als Antwort auf Schäden an der DNA wird RecQ2 von bestimmten Proteinkomplexen phosphoryliert. Es ist selbst Teil des BRCA1-associated genome surveillance complex (BASC) und des RAD50-MRE11-NBS1-Komplexes. RecQ2 interagiert mit RMI1. Die Gesamtheit der Funktionen des Proteins ist Gegenstand momentaner Forschung.<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>
</p>
<div class="mw-heading mw-heading2"><h2 id="Literatur">Literatur</h2></div>
<ul><li>Hemphill AW, Akkari Y, Newell AH, <i>et al.</i>: <cite style="font-style:italic">Topo IIIalpha and BLM act within the Fanconi anemia pathway in response to DNA-crosslinking agents</cite>. In: <cite style="font-style:italic">Cytogenet. Genome Res.</cite> 125. Jahrgang, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>3</span>, 2009, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>165–75</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1159/000230001">10.1159/000230001</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/19738377?dopt=Abstract">PMID 19738377</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759320/">PMC 2759320</a> (freier Volltext).<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Bloom-Syndrom-Protein&rft.atitle=Topo+IIIalpha+and+BLM+act+within+the+Fanconi+anemia+pathway+in+response+to+DNA-crosslinking+agents&rft.au=Hemphill+AW%2C+Akkari+Y%2C+Newell+AH%2C+...&rft.date=2009&rft.doi=10.1159%2F000230001&rft.genre=journal&rft.issue=3&rft.jtitle=Cytogenet.+Genome+Res.&rft.pages=165-75&rft.pmc=2759320&rft.pmid=19738377&rft.volume=125.+Jahrgang" style="display:none"> </span></li>
<li>Srivastava V, Modi P, Tripathi V, Mudgal R, De S, Sengupta S: <cite style="font-style:italic">BLM helicase stimulates the ATPase and chromatin-remodeling activities of RAD54</cite>. In: <cite style="font-style:italic">J. Cell. Sci.</cite> 122. Jahrgang, Pt 17, September 2009, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>3093–103</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1242/jcs.051813">10.1242/jcs.051813</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/19671661?dopt=Abstract">PMID 19671661</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729260/">PMC 2729260</a> (freier Volltext).<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Bloom-Syndrom-Protein&rft.atitle=BLM+helicase+stimulates+the+ATPase+and+chromatin-remodeling+activities+of+RAD54&rft.au=Srivastava+V%2C+Modi+P%2C+Tripathi+V%2C+...&rft.date=2009-09&rft.doi=10.1242%2Fjcs.051813&rft.genre=journal&rft.issue=Pt+17&rft.jtitle=J.+Cell.+Sci.&rft.pages=3093-103&rft.pmc=2729260&rft.pmid=19671661&rft.volume=122.+Jahrgang" style="display:none"> </span></li>
<li>Kikuchi K, Abdel-Aziz HI, Taniguchi Y, Yamazoe M, Takeda S, Hirota K: <cite style="font-style:italic">Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences</cite>. In: <cite style="font-style:italic">J. Biol. Chem.</cite> 284. Jahrgang, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>39</span>, September 2009, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>26360–7</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1074/jbc.M109.029348">10.1074/jbc.M109.029348</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/19661064?dopt=Abstract">PMID 19661064</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785323/">PMC 2785323</a> (freier Volltext).<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Bloom-Syndrom-Protein&rft.atitle=Bloom+DNA+helicase+facilitates+homologous+recombination+between+diverged+homologous+sequences&rft.au=Kikuchi+K%2C+Abdel-Aziz+HI%2C+Taniguchi+Y%2C+...&rft.date=2009-09&rft.doi=10.1074%2Fjbc.M109.029348&rft.genre=journal&rft.issue=39&rft.jtitle=J.+Biol.+Chem.&rft.pages=26360-7&rft.pmc=2785323&rft.pmid=19661064&rft.volume=284.+Jahrgang" style="display:none"> </span></li>
<li>Bugreev DV, Mazina OM, Mazin AV: <cite style="font-style:italic">Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism</cite>. In: <cite style="font-style:italic">J. Biol. Chem.</cite> 284. Jahrgang, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>39</span>, September 2009, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>26349–59</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1074/jbc.M109.029371">10.1074/jbc.M109.029371</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/19632996?dopt=Abstract">PMID 19632996</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786030/">PMC 2786030</a> (freier Volltext).<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Bloom-Syndrom-Protein&rft.atitle=Bloom+syndrome+helicase+stimulates+RAD51+DNA+strand+exchange+activity+through+a+novel+mechanism&rft.au=Bugreev+DV%2C+Mazina+OM%2C+Mazin+AV&rft.date=2009-09&rft.doi=10.1074%2Fjbc.M109.029371&rft.genre=journal&rft.issue=39&rft.jtitle=J.+Biol.+Chem.&rft.pages=26349-59&rft.pmc=2786030&rft.pmid=19632996&rft.volume=284.+Jahrgang" style="display:none"> </span></li>
<li>Naim V, Rosselli F: <cite style="font-style:italic">The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities</cite>. In: <cite style="font-style:italic">Nat. Cell Biol.</cite> 11. Jahrgang, <span style="white-space:nowrap">Nr.<span style="display:inline-block;width:.2em"> </span>6</span>, Juni 2009, <span style="white-space:nowrap">S.<span style="display:inline-block;width:.2em"> </span>761–8</span>, <a href="Digital_Object_Identifier" title="Digital Object Identifier">doi</a>:<span class="uri-handle" style="white-space:nowrap"><a rel="nofollow" class="external text" href="https://doi.org/10.1038/ncb1883">10.1038/ncb1883</a></span>, <a class="external mw-magiclink-pmid" rel="nofollow" href="https://www.ncbi.nlm.nih.gov/pubmed/19465921?dopt=Abstract">PMID 19465921</a>.<span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rfr_id=info:sid/de.wikipedia.org:Bloom-Syndrom-Protein&rft.atitle=The+FANC+pathway+and+BLM+collaborate+during+mitosis+to+prevent+micro-nucleation+and+chromosome+abnormalities&rft.au=Naim+V%2C+Rosselli+F&rft.date=2009-06&rft.doi=10.1038%2Fncb1883&rft.genre=journal&rft.issue=6&rft.jtitle=Nat.+Cell+Biol.&rft.pages=761-8&rft.pmid=19465921&rft.volume=11.+Jahrgang" style="display:none"> </span></li></ul>
<div class="mw-heading mw-heading2"><h2 id="Einzelnachweise">Einzelnachweise</h2></div>
<ol class="references">
<li id="cite_note-1"><span class="mw-cite-backlink"><a href="#cite_ref-1">↑</a></span> <span class="reference-text"><span class="cite"><a rel="nofollow" class="external text" href="https://www.ebi.ac.uk/interpro/IEntry?ac=IPR002121"><i>IPR002121 Helicase/RNase D C-terminal, HRDC domain.</i></a> In: <i>InterPro.</i> EBI,<span class="Abrufdatum"> abgerufen am 26. Oktober 2010</span> (englisch).</span><span style="display: none;" class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Adc&rfr_id=info%3Asid%2Fde.wikipedia.org%3ABloom-Syndrom-Protein&rft.title=IPR002121+Helicase%2FRNase+D+C-terminal%2C+HRDC+domain&rft.description=IPR002121+Helicase%2FRNase+D+C-terminal%2C+HRDC+domain&rft.identifier=https%3A%2F%2Fwww.ebi.ac.uk%2Finterpro%2FIEntry%3Fac%3DIPR002121&rft.publisher=EBI&rft.language=en"> </span></span>
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<li id="cite_note-2"><span class="mw-cite-backlink"><a href="#cite_ref-2">↑</a></span> <span class="reference-text"><a href="UniProt" title="UniProt">UniProt</a> <a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprotkb/P54312">P54312</a></span>
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