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BBS1 - Wikipedia
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class="vector-toc-numb">5</span> <span>Further reading</span> </div> </a> <ul id="toc-Further_reading-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon 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Available in 2 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-2" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">2 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-tt mw-list-item"><a href="https://tt.wikipedia.org/wiki/BBS1" title="BBS1 – Tatar" lang="tt" hreflang="tt" data-title="BBS1" data-language-autonym="Татарча / tatarça" data-language-local-name="Tatar" class="interlanguage-link-target"><span>Татарча / tatarça</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/BBS1" title="BBS1 – Ukrainian" lang="uk" hreflang="uk" data-title="BBS1" data-language-autonym="Українська" data-language-local-name="Ukrainian" class="interlanguage-link-target"><span>Українська</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q17837870#sitelinks-wikipedia" title="Edit interlanguage links" class="wbc-editpage">Edit links</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> <div id="left-navigation"> <nav aria-label="Namespaces"> <div id="p-associated-pages" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-associated-pages" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-nstab-main" class="selected vector-tab-noicon mw-list-item"><a href="/wiki/BBS1" title="View the content page [c]" accesskey="c"><span>Article</span></a></li><li id="ca-talk" 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data-pinnable-element-id="vector-appearance" data-pinned-container-id="vector-appearance-pinned-container" data-unpinned-container-id="vector-appearance-unpinned-container" > <div class="vector-pinnable-header-label">Appearance</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-appearance.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-appearance.unpin">hide</button> </div> </div> </div> </nav> </div> </div> <div id="bodyContent" class="vector-body" aria-labelledby="firstHeading" data-mw-ve-target-container> <div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Protein</div> <table class="infobox" style="width:26.4em"><tbody><tr><th colspan="4" style="text-align:center;font-size:125%;font-weight:bold">BBS1</th></tr><tr><td colspan="4" style="text-align:center"></td></tr><tr><th colspan="4" style="text-align:center;background-color:#ddd">Identifiers</th></tr><tr><th scope="row" style="background-color:#c3fdb8"><span class="plainlinks"><a href="/wiki/Gene_nomenclature" title="Gene nomenclature">Aliases</a></span></th><td colspan="3" style="background:#eee"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/966">BBS1</a></span>, BBS2L2, Bardet-Biedl syndrome 1</td></tr><tr><th scope="row" style="background-color:#c3fdb8">External IDs</th><td colspan="3" style="background-color:#eee"><span class="plainlinks"><a href="/wiki/Mendelian_Inheritance_in_Man" class="mw-redirect" title="Mendelian Inheritance in Man">OMIM</a>: <a rel="nofollow" class="external text" href="https://omim.org/entry/209901">209901</a>; <a href="/wiki/Mouse_Genome_Informatics" title="Mouse Genome Informatics">MGI</a>: <a rel="nofollow" class="external text" href="http://www.informatics.jax.org/marker/MGI:1277215">1277215</a>; <a href="/wiki/HomoloGene" title="HomoloGene">HomoloGene</a>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=homologene&dopt=HomoloGene&list_uids=11641">11641</a>; <a href="/wiki/GeneCards" title="GeneCards">GeneCards</a>: <a rel="nofollow" class="external text" href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS1">BBS1</a>; <a href="/wiki/Orthologous_MAtrix" title="Orthologous MAtrix">OMA</a>:<a rel="nofollow" class="external text" href="https://omabrowser.org/oma/vps/ENSG00000174483">BBS1 - orthologs</a></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:#ddd">Gene location (<a href="/wiki/Human_genome" title="Human genome">Human</a>)</th></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><span typeof="mw:File"><a href="/wiki/File:Ideogram_human_chromosome_11.svg" class="mw-file-description" title="Chromosome 11 (human)"><img alt="Chromosome 11 (human)" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Ideogram_human_chromosome_11.svg/300px-Ideogram_human_chromosome_11.svg.png" decoding="async" width="300" height="120" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Ideogram_human_chromosome_11.svg/450px-Ideogram_human_chromosome_11.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Ideogram_human_chromosome_11.svg/600px-Ideogram_human_chromosome_11.svg.png 2x" data-file-width="474" data-file-height="189" /></a></span></td></tr><tr><th scope="row" width="15%" style="background-color:#c3fdb8"><a href="/wiki/Chromosome" title="Chromosome">Chr.</a></th><td colspan="3" width="85%" style="background-color:#eee"><span class="plainlinks"><a href="/wiki/Chromosome_11_(human)" class="mw-redirect" title="Chromosome 11 (human)">Chromosome 11 (human)</a><sup id="cite_ref-refGRCh38Ensembl_1-0" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><div align="center"><div style="position: relative; width: 300px;"><span typeof="mw:File"><a href="/wiki/File:Human_chromosome_11_ideogram.svg" class="mw-file-description" title="Chromosome 11 (human)"><img alt="Chromosome 11 (human)" src="//upload.wikimedia.org/wikipedia/commons/thumb/4/43/Human_chromosome_11_ideogram.svg/300px-Human_chromosome_11_ideogram.svg.png" decoding="async" width="300" height="58" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/43/Human_chromosome_11_ideogram.svg/450px-Human_chromosome_11_ideogram.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/43/Human_chromosome_11_ideogram.svg/600px-Human_chromosome_11_ideogram.svg.png 2x" data-file-width="1125" data-file-height="216" /></a></span><div style="position: absolute; left: 139.44306919737px; top: 2px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:HSR_1996_II_3.5e.svg" class="mw-file-description" title="Genomic location for BBS1"><img alt="Genomic location for BBS1" src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/14px-HSR_1996_II_3.5e.svg.png" decoding="async" width="14" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/21px-HSR_1996_II_3.5e.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/28px-HSR_1996_II_3.5e.svg.png 2x" data-file-width="142" data-file-height="142" /></a></span></div><div style="position: absolute; left: 145.4px; top: 19px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:Red_rectangle_2x18.png" class="mw-file-description" title="Genomic location for BBS1"><img alt="Genomic location for BBS1" src="//upload.wikimedia.org/wikipedia/commons/6/6a/Red_rectangle_2x18.png" decoding="async" width="2" height="18" class="mw-file-element" data-file-width="2" data-file-height="18" /></a></span></div></div></div></td></tr><tr><th scope="row" rowspan="2" width="15%" style="background-color:#c3fdb8"><a href="/wiki/Locus_(genetics)" title="Locus (genetics)">Band</a></th><td rowspan="2" width="35%" style="background-color:#eee"><span class="plainlinks">11q13.2</span></td><th scope="row" style="background-color:#c3fdb8">Start</th><td style="background-color:#eee"><span class="plainlinks">66,510,606 <a href="/wiki/Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCh38Ensembl_1-1" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><th scope="row" style="background-color:#c3fdb8">End</th><td style="background-color:#eee"><span class="plainlinks">66,533,613 <a href="/wiki/Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCh38Ensembl_1-2" class="reference"><a href="#cite_note-refGRCh38Ensembl-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:#ddd">Gene location (<a href="/wiki/Laboratory_mouse" title="Laboratory mouse">Mouse</a>)</th></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><span typeof="mw:File"><a href="/wiki/File:Ideogram_house_mouse_chromosome_19.svg" class="mw-file-description" title="Chromosome 19 (mouse)"><img alt="Chromosome 19 (mouse)" src="//upload.wikimedia.org/wikipedia/commons/thumb/8/82/Ideogram_house_mouse_chromosome_19.svg/260px-Ideogram_house_mouse_chromosome_19.svg.png" decoding="async" width="260" height="111" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/8/82/Ideogram_house_mouse_chromosome_19.svg/390px-Ideogram_house_mouse_chromosome_19.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/8/82/Ideogram_house_mouse_chromosome_19.svg/520px-Ideogram_house_mouse_chromosome_19.svg.png 2x" data-file-width="470" data-file-height="200" /></a></span></td></tr><tr><th scope="row" width="15%" style="background-color:#c3fdb8"><a href="/wiki/Chromosome" title="Chromosome">Chr.</a></th><td colspan="3" width="85%" style="background-color:#eee"><span class="plainlinks">Chromosome 19 (mouse)<sup id="cite_ref-refGRCm38Ensembl_2-0" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><div align="center"><div style="position: relative; width: 300px;"><span typeof="mw:File"><a href="/wiki/File:Ideogram_of_house_mouse_chromosome_19.svg" class="mw-file-description" title="Chromosome 19 (mouse)"><img alt="Chromosome 19 (mouse)" src="//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Ideogram_of_house_mouse_chromosome_19.svg/300px-Ideogram_of_house_mouse_chromosome_19.svg.png" decoding="async" width="300" height="58" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Ideogram_of_house_mouse_chromosome_19.svg/450px-Ideogram_of_house_mouse_chromosome_19.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/65/Ideogram_of_house_mouse_chromosome_19.svg/600px-Ideogram_of_house_mouse_chromosome_19.svg.png 2x" data-file-width="1200" data-file-height="231" /></a></span><div style="position: absolute; left: 18.285095789829px; top: 2px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:HSR_1996_II_3.5e.svg" class="mw-file-description" title="Genomic location for BBS1"><img alt="Genomic location for BBS1" src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/14px-HSR_1996_II_3.5e.svg.png" decoding="async" width="14" height="14" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/21px-HSR_1996_II_3.5e.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d8/HSR_1996_II_3.5e.svg/28px-HSR_1996_II_3.5e.svg.png 2x" data-file-width="142" data-file-height="142" /></a></span></div><div style="position: absolute; left: 24.3px; top: 19px; padding: 0;"><span typeof="mw:File"><a href="/wiki/File:Red_rectangle_2x18.png" class="mw-file-description" title="Genomic location for BBS1"><img alt="Genomic location for BBS1" src="//upload.wikimedia.org/wikipedia/commons/6/6a/Red_rectangle_2x18.png" decoding="async" width="2" height="18" class="mw-file-element" data-file-width="2" data-file-height="18" /></a></span></div></div></div></td></tr><tr><th scope="row" rowspan="2" width="15%" style="background-color:#c3fdb8"><a href="/wiki/Locus_(genetics)" title="Locus (genetics)">Band</a></th><td rowspan="2" width="35%" style="background-color:#eee"><span class="plainlinks">19|19 A</span></td><th scope="row" style="background-color:#c3fdb8">Start</th><td style="background-color:#eee"><span class="plainlinks">4,936,906 <a href="/wiki/Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCm38Ensembl_2-1" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr><tr><th scope="row" style="background-color:#c3fdb8">End</th><td style="background-color:#eee"><span class="plainlinks">4,956,656 <a href="/wiki/Base_pair" title="Base pair">bp</a><sup id="cite_ref-refGRCm38Ensembl_2-2" class="reference"><a href="#cite_note-refGRCm38Ensembl-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:#ddd"><a href="/wiki/Gene_expression" title="Gene expression">RNA expression</a> pattern</th></tr><tr><th scope="row" style="background-color:#c3fdb8"><a rel="nofollow" class="external text" href="https://www.bgee.org/">Bgee</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th><b><a href="/wiki/Human_genome" title="Human genome">Human</a></b></th><th><b><a href="/wiki/Laboratory_mouse" title="Laboratory mouse">Mouse</a> (ortholog)</b></th></tr><tr><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="1"><span class="plainlinks" style="margin:-3px"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSG00000174483">Top expressed in</a></span></td></tr><tr><td colspan="1"><div class="plainlinks" style="margin:-12px 0px -10px 0px"><ul style="line-height:15%;margin:9px"><li style="line-height: 137%;">right uterine tube</li><br /><li style="line-height: 137%;">left ovary</li><br /><li style="line-height: 137%;">pituitary gland</li><br /><li style="line-height: 137%;">right ovary</li><br /><li style="line-height: 137%;">right lobe of thyroid gland</li><br /><li style="line-height: 137%;">right hemisphere of cerebellum</li><br /><li style="line-height: 137%;">body of uterus</li><br /><li style="line-height: 137%;">anterior pituitary</li><br /><li style="line-height: 137%;">left lobe of thyroid gland</li><br /><li style="line-height: 137%;">right frontal lobe</li></ul></div></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="1"><span class="plainlinks" style="margin:-3px"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSMUSG00000006464">Top expressed in</a></span></td></tr><tr><td colspan="1"><div class="plainlinks" style="margin:-12px 0px -10px 0px"><ul style="line-height:15%;margin:9px"><li style="line-height: 137%;">neural layer of retina</li><br /><li style="line-height: 137%;">otolith organ</li><br /><li style="line-height: 137%;">spermatocyte</li><br /><li style="line-height: 137%;">utricle</li><br /><li style="line-height: 137%;">Epithelium of choroid plexus</li><br /><li style="line-height: 137%;">substantia nigra</li><br /><li style="line-height: 137%;">olfactory epithelium</li><br /><li style="line-height: 137%;">pineal gland</li><br /><li style="line-height: 137%;">habenula</li><br /><li style="line-height: 137%;">piriform cortex</li></ul></div></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.bgee.org/gene/ENSG00000174483">More reference expression data</a></span></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><a rel="nofollow" class="external text" href="http://biogps.org/">BioGPS</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><td colspan="4" style="text-align:center;background-color:#eee">n/a</td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><span class="plainlinks"></span></td></tr></tbody></table></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><table class="collapsible collapsed" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:#ddd"><a href="/wiki/Gene_ontology" class="mw-redirect" title="Gene ontology">Gene ontology</a></th></tr><tr><td style="background-color:#c3fdb8;font-weight:bold">Molecular function</td><td style="background-color:#eee"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005119">smoothened binding</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005113">patched binding</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005515">protein binding</a></li></ul> </div></td></tr><tr><td style="background-color:#c3fdb8;font-weight:bold">Cellular component</td><td style="background-color:#eee"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005737">cytoplasm</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0036064">ciliary basal body</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005829">cytosol</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005813">centrosome</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0042995">cell projection</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0034464">BBSome</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0016020">membrane</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005886">plasma membrane</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005929">cilium</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005815">microtubule organizing center</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0060170">ciliary membrane</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005930">axoneme</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0005856">cytoskeleton</a></li></ul> </div></td></tr><tr><td style="background-color:#c3fdb8;font-weight:bold">Biological process</td><td style="background-color:#eee"><div class="plainlinks"> <ul><li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0050896">response to stimulus</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0001895">retina homeostasis</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0030030">cell projection organization</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0061512">protein localization to cilium</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0015031">protein transport</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0045494">photoreceptor cell maintenance</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0007601">visual perception</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0043001">Golgi to plasma membrane protein transport</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0060271">cilium assembly</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:1905515">non-motile cilium assembly</a></li> <li><a rel="nofollow" class="external text" href="http://amigo.geneontology.org/amigo/term/GO:0007608">sensory perception of smell</a></li></ul> </div></td></tr><tr><td colspan="4" style="background-color:#eee;text-align:center">Sources:<a rel="nofollow" class="external text" href="http://amigo.geneontology.org/">Amigo</a> / <a rel="nofollow" class="external text" href="https://www.ebi.ac.uk/QuickGO/">QuickGO</a></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><table class="collapsible" style="padding:0;border:none;margin:0;width:100%;text-align:left"><tbody><tr><th colspan="4" style="text-align:center;background-color:#ddd"><a href="/wiki/Orthologs" class="mw-redirect" title="Orthologs">Orthologs</a></th></tr><tr><th scope="row" style="background-color:#c3fdb8">Species</th><td><b>Human</b></td><td><b>Mouse</b></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><a href="/wiki/Entrez" title="Entrez">Entrez</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=582&rn=1">582</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=retrieve&dopt=default&list_uids=52028&rn=1">52028</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><a href="/wiki/Ensembl" class="mw-redirect" title="Ensembl">Ensembl</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="http://www.ensembl.org/Homo_sapiens/geneview?gene=ENSG00000174483;db=core">ENSG00000174483</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="http://www.ensembl.org/Mus_musculus/geneview?gene=ENSMUSG00000006464;db=core">ENSMUSG00000006464</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><a href="/wiki/UniProt" title="UniProt">UniProt</a></th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprot/Q8NFJ9">Q8NFJ9</a></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1"><span class="plainlinks"></span></th></tr><tr><td colspan="1"><p class="plainlinks"><a rel="nofollow" class="external text" href="https://www.uniprot.org/uniprot/Q3V3N7">Q3V3N7</a></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8">RefSeq (mRNA)</th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class="plainlinks"></th></tr><tr><td colspan="1"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_024649">NM_024649</a></span></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class="plainlinks"></th></tr><tr><td colspan="1"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NM_001033128">NM_001033128</a></span></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8">RefSeq (protein)</th><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class="plainlinks"></th></tr><tr><td colspan="1"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_078925">NP_078925</a></span></p></td></tr></tbody></table></td><td><table class="none" style="padding:0;border:none;margin:0;width:100%;text-align:right"><tbody><tr><th colspan="1" class="plainlinks"></th></tr><tr><td colspan="1"><p><span class="plainlinks"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?val=NP_001028300">NP_001028300</a></span></p></td></tr></tbody></table></td></tr><tr><th scope="row" style="background-color:#c3fdb8">Location (UCSC)</th><td><span class="plainlinks"><a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&position=chr11:66510606-66533613">Chr 11: 66.51 – 66.53 Mb</a></span></td><td><span class="plainlinks"><a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Mouse&db=mm0&position=chr19:4936906-4956656">Chr 19: 4.94 – 4.96 Mb</a></span></td></tr><tr><th scope="row" style="background-color:#c3fdb8"><a href="/wiki/PubMed" title="PubMed">PubMed</a> search</th><td><span class="plainlinks"><sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></span></td><td><span class="plainlinks"><sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup></span></td></tr></tbody></table></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><a href="/wiki/Wikidata" title="Wikidata">Wikidata</a></td></tr><tr><td colspan="4" style="text-align:center;background-color:#eee"><table style="padding:0;border:none;margin:0;width:100%;text-align:center"><tbody><tr><td colspan="2" style="background-color:#eee;text-align:center"><a href="https://www.wikidata.org/wiki/Q17837870" class="extiw" title="d:Q17837870">View/Edit Human</a></td><td colspan="2" style="background-color:#eee;text-align:center"><a href="https://www.wikidata.org/wiki/Q18257074" class="extiw" title="d:Q18257074">View/Edit Mouse</a></td></tr></tbody></table></td></tr></tbody></table> <p><b>Bardet–Biedl syndrome 1 protein</b> is a <a href="/wiki/Protein" title="Protein">protein</a> that in humans is encoded by the <i>BBS1</i> <a href="/wiki/Gene" title="Gene">gene</a>.<sup id="cite_ref-pmid9039982_5-0" class="reference"><a href="#cite_note-pmid9039982-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid12567324_6-0" class="reference"><a href="#cite_note-pmid12567324-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-entrez_7-0" class="reference"><a href="#cite_note-entrez-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> BBS1 is part of the <a href="/wiki/BBSome" title="BBSome">BBSome</a> complex, which required for <a href="/wiki/Ciliogenesis" title="Ciliogenesis">ciliogenesis</a>. Mutations in this gene have been observed in patients with the major form (type 1) of <a href="/wiki/Bardet%E2%80%93Biedl_syndrome" title="Bardet–Biedl syndrome">Bardet–Biedl syndrome</a>. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=BBS1&action=edit&section=1" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>As of 2008<sup class="plainlinks noexcerpt noprint asof-tag update" style="display:none;"><a class="external text" href="https://en.wikipedia.org/w/index.php?title=BBS1&action=edit">[update]</a></sup>, research results indicated that the encoded protein may play a role in eye, limb, cardiac and reproductive system development.<sup id="cite_ref-entrez_7-1" class="reference"><a href="#cite_note-entrez-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup class="noprint Inline-Template" style="margin-left:0.1em; white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Manual_of_Style/Dates_and_numbers#Chronological_items" title="Wikipedia:Manual of Style/Dates and numbers"><span title="The text near this tag is dated. (February 2013)">needs update</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=BBS1&action=edit&section=2" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap"><ol class="references"> <li id="cite_note-refGRCh38Ensembl-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-refGRCh38Ensembl_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-refGRCh38Ensembl_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-refGRCh38Ensembl_1-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://May2017.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000174483">GRCh38: Ensembl release 89: ENSG00000174483</a> – <a href="/wiki/Ensembl_genome_database_project" title="Ensembl genome database project">Ensembl</a>, May 2017</span> </li> <li id="cite_note-refGRCm38Ensembl-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-refGRCm38Ensembl_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-refGRCm38Ensembl_2-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-refGRCm38Ensembl_2-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://May2017.archive.ensembl.org/Mus_musculus/Gene/Summary?db=core;g=ENSMUSG00000006464">GRCm38: Ensembl release 89: ENSMUSG00000006464</a> – <a href="/wiki/Ensembl_genome_database_project" title="Ensembl genome database project">Ensembl</a>, May 2017</span> </li> <li id="cite_note-3"><span class="mw-cite-backlink"><b><a href="#cite_ref-3">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output 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href="https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Link&LinkName=gene_pubmed&from_uid=52028">"Mouse PubMed Reference:"</a>. <i>National Center for Biotechnology Information, U.S. National Library of Medicine</i>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=National+Center+for+Biotechnology+Information%2C+U.S.+National+Library+of+Medicine&rft.atitle=Mouse+PubMed+Reference%3A&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fsites%2Fentrez%3Fdb%3Dgene%26cmd%3DLink%26LinkName%3Dgene_pubmed%26from_uid%3D52028&rfr_id=info%3Asid%2Fen.wikipedia.org%3ABBS1" class="Z3988"></span></span> </li> <li id="cite_note-pmid9039982-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid9039982_5-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBealesWarnerHitmanThakker1997" class="citation journal cs1">Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA (May 1997). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050859">"Bardet–Biedl syndrome: a molecular and phenotypic study of 18 families"</a>. <i>J Med Genet</i>. <b>34</b> (2): 92–8. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fjmg.34.2.92">10.1136/jmg.34.2.92</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050859">1050859</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/9039982">9039982</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J+Med+Genet&rft.atitle=Bardet%E2%80%93Biedl+syndrome%3A+a+molecular+and+phenotypic+study+of+18+families&rft.volume=34&rft.issue=2&rft.pages=92-8&rft.date=1997-05&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1050859%23id-name%3DPMC&rft_id=info%3Apmid%2F9039982&rft_id=info%3Adoi%2F10.1136%2Fjmg.34.2.92&rft.aulast=Beales&rft.aufirst=PL&rft.au=Warner%2C+AM&rft.au=Hitman%2C+GA&rft.au=Thakker%2C+R&rft.au=Flinter%2C+FA&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1050859&rfr_id=info%3Asid%2Fen.wikipedia.org%3ABBS1" class="Z3988"></span></span> </li> <li id="cite_note-pmid12567324-6"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid12567324_6-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBadanoAnsleyLeitchLewis2003" class="citation journal cs1">Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (Feb 2003). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180240">"Identification of a novel Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2"</a>. <i>Am J Hum Genet</i>. <b>72</b> (3): 650–8. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1086%2F368204">10.1086/368204</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180240">1180240</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/12567324">12567324</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Am+J+Hum+Genet&rft.atitle=Identification+of+a+novel+Bardet%E2%80%93Biedl+syndrome+protein%2C+BBS7%2C+that+shares+structural+features+with+BBS1+and+BBS2&rft.volume=72&rft.issue=3&rft.pages=650-8&rft.date=2003-02&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1180240%23id-name%3DPMC&rft_id=info%3Apmid%2F12567324&rft_id=info%3Adoi%2F10.1086%2F368204&rft.aulast=Badano&rft.aufirst=JL&rft.au=Ansley%2C+SJ&rft.au=Leitch%2C+CC&rft.au=Lewis%2C+RA&rft.au=Lupski%2C+JR&rft.au=Katsanis%2C+N&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1180240&rfr_id=info%3Asid%2Fen.wikipedia.org%3ABBS1" class="Z3988"></span></span> </li> <li id="cite_note-entrez-7"><span class="mw-cite-backlink">^ <a href="#cite_ref-entrez_7-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-entrez_7-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=582">"Entrez Gene: BBS1 Bardet–Biedl syndrome 1"</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Entrez+Gene%3A+BBS1+Bardet%E2%80%93Biedl+syndrome+1&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fsites%2Fentrez%3FDb%3Dgene%26Cmd%3DShowDetailView%26TermToSearch%3D582&rfr_id=info%3Asid%2Fen.wikipedia.org%3ABBS1" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=BBS1&action=edit&section=3" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs">GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl syndrome</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="External_links_2">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=BBS1&action=edit&section=4" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li>Human <a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&singleSearch=knownCanonical&position=BBS1"><i>BBS1</i></a> genome location and <a rel="nofollow" class="external text" href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=BBS1"><i>BBS1</i></a> gene details page in the <a href="/wiki/UCSC_Genome_Browser" title="UCSC Genome Browser">UCSC Genome Browser</a>.</li></ul> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=BBS1&action=edit&section=5" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239549316">.mw-parser-output .refbegin{margin-bottom:0.5em}.mw-parser-output .refbegin-hanging-indents>ul{margin-left:0}.mw-parser-output .refbegin-hanging-indents>ul>li{margin-left:0;padding-left:3.2em;text-indent:-3.2em}.mw-parser-output .refbegin-hanging-indents ul,.mw-parser-output .refbegin-hanging-indents ul li{list-style:none}@media(max-width:720px){.mw-parser-output .refbegin-hanging-indents>ul>li{padding-left:1.6em;text-indent:-1.6em}}.mw-parser-output .refbegin-columns{margin-top:0.3em}.mw-parser-output .refbegin-columns ul{margin-top:0}.mw-parser-output .refbegin-columns li{page-break-inside:avoid;break-inside:avoid-column}@media screen{.mw-parser-output .refbegin{font-size:90%}}</style><div class="refbegin refbegin-columns references-column-width" style="column-width: 30em"> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKatsanisLewisStockton2000" class="citation journal cs1">Katsanis N, Lewis RA, Stockton DW, et al. 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Genet</i>. <b>65</b> (6): 1672–9. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1086%2F302684">10.1086/302684</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288378">1288378</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10577921">10577921</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Am.+J.+Hum.+Genet.&rft.atitle=Delineation+of+the+critical+interval+of+Bardet%E2%80%93Biedl+syndrome+1+%28BBS1%29+to+a+small+region+of+11q13%2C+through+linkage+and+haplotype+analysis+of+91+pedigrees.&rft.volume=65&rft.issue=6&rft.pages=1672-9&rft.date=2000&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1288378%23id-name%3DPMC&rft_id=info%3Apmid%2F10577921&rft_id=info%3Adoi%2F10.1086%2F302684&rft.aulast=Katsanis&rft.aufirst=N&rft.au=Lewis%2C+RA&rft.au=Stockton%2C+DW&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1288378&rfr_id=info%3Asid%2Fen.wikipedia.org%3ABBS1" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFYoungWoodsParfrey2000" class="citation journal cs1">Young TL, Woods MO, Parfrey PS, et al. 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title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Invest.+Ophthalmol.+Vis.+Sci.&rft.atitle=Retinal+disease+expression+in+Bardet%E2%80%93Biedl+syndrome-1+%28BBS1%29+is+a+spectrum+from+maculopathy+to+retina-wide+degeneration&rft.volume=47&rft.issue=11&rft.pages=5004-10&rft.date=2006&rft_id=info%3Adoi%2F10.1167%2Fiovs.06-0517&rft_id=info%3Apmid%2F17065520&rft.aulast=Azari&rft.aufirst=AA&rft.au=Aleman%2C+TS&rft.au=Cideciyan%2C+AV&rft_id=https%3A%2F%2Fdoi.org%2F10.1167%252Fiovs.06-0517&rfr_id=info%3Asid%2Fen.wikipedia.org%3ABBS1" class="Z3988"></span></li></ul> </div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1129693374">.mw-parser-output .hlist dl,.mw-parser-output .hlist ol,.mw-parser-output .hlist ul{margin:0;padding:0}.mw-parser-output .hlist dd,.mw-parser-output .hlist dt,.mw-parser-output .hlist li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline 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.navbox-list-with-group{text-align:left;border-left-width:2px;border-left-style:solid}.mw-parser-output tr+tr>.navbox-abovebelow,.mw-parser-output tr+tr>.navbox-group,.mw-parser-output tr+tr>.navbox-image,.mw-parser-output tr+tr>.navbox-list{border-top:2px solid #fdfdfd}.mw-parser-output .navbox-title{background-color:#ccf}.mw-parser-output .navbox-abovebelow,.mw-parser-output .navbox-group,.mw-parser-output .navbox-subgroup .navbox-title{background-color:#ddf}.mw-parser-output .navbox-subgroup .navbox-group,.mw-parser-output .navbox-subgroup .navbox-abovebelow{background-color:#e6e6ff}.mw-parser-output .navbox-even{background-color:#f7f7f7}.mw-parser-output .navbox-odd{background-color:transparent}.mw-parser-output .navbox .hlist td dl,.mw-parser-output .navbox .hlist td ol,.mw-parser-output .navbox .hlist td ul,.mw-parser-output .navbox td.hlist dl,.mw-parser-output .navbox td.hlist ol,.mw-parser-output .navbox td.hlist ul{padding:0.125em 0}.mw-parser-output .navbox 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ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Ciliary_proteins" title="Template:Ciliary proteins"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Ciliary_proteins" title="Template talk:Ciliary proteins"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Ciliary_proteins" title="Special:EditPage/Template:Ciliary proteins"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Ciliary_proteins" style="font-size:114%;margin:0 4em">Ciliary <a href="/wiki/Protein" title="Protein">proteins</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Nephrocystin</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/NPHP1" title="NPHP1">NPHP1</a></li> <li><a href="/wiki/INVS" title="INVS">INVS</a></li> <li><a href="/wiki/NPHP3" title="NPHP3">NPHP3</a></li> <li><a href="/wiki/NPHP4" title="NPHP4">NPHP4</a></li> <li><a href="/wiki/IQCB1" title="IQCB1">IQCB1</a></li> <li><a href="/wiki/CEP290" title="CEP290">CEP290</a></li> <li><a href="/wiki/GLIS2" title="GLIS2">GLIS2</a></li> <li><a href="/wiki/RPGRIP1L" title="RPGRIP1L">RPGRIP1L</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Basal_body" title="Basal body">Basal body</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <dl><dt><a href="/wiki/BBsome" class="mw-redirect" title="BBsome">BBsome</a></dt> <dd><a class="mw-selflink selflink">BBS1</a></dd> <dd><a href="/wiki/BBS2" title="BBS2">BBS2</a></dd> <dd><a href="/wiki/BBS4" title="BBS4">BBS4</a></dd> <dd><a href="/wiki/BBS5" title="BBS5">BBS5</a></dd> <dd><a href="/wiki/BBS7" title="BBS7">BBS7</a></dd> <dd><a href="/wiki/TTC8" title="TTC8">TTC8</a></dd> <dd><a href="/wiki/BBS9" title="BBS9">BBS9</a></dd></dl> <dl><dt><a href="/wiki/Chaperone_(protein)" title="Chaperone (protein)">chaperone</a></dt> <dd><a href="/wiki/MKKS" title="MKKS">MKKS</a></dd> <dd><a href="/wiki/BBS10" title="BBS10">BBS10</a></dd> <dd><a href="/wiki/BBS12" title="BBS12">BBS12</a></dd></dl> <dl><dt>Other</dt> <dd><a href="/wiki/ARL6" title="ARL6">ARL6</a></dd> <dd><a href="/wiki/TRIM32" title="TRIM32">TRIM32</a></dd> <dd><a href="/wiki/ALMS1" title="ALMS1">ALMS1</a></dd> <dd><a href="/wiki/CC2D2A" title="CC2D2A">CC2D2A</a></dd> <dd><a href="/wiki/CEP290" title="CEP290">CEP290</a></dd> <dd><a href="/wiki/MKS1" title="MKS1">MKS1</a></dd> <dd><a href="/wiki/RPGRIP1L" title="RPGRIP1L">RPGRIP1L</a></dd> <dd><a href="/wiki/OFD1" title="OFD1">OFD1</a></dd> <dd><a href="/wiki/AHI1" title="AHI1">AHI1</a></dd> <dd><a href="/wiki/INVS" title="INVS">INVS</a></dd> <dd><a href="/wiki/NPHP4" title="NPHP4">NPHP4</a></dd> <dd><a href="/wiki/NEK8" title="NEK8">NEK8</a></dd> <dd><a href="/wiki/NPHP1" title="NPHP1">NPHP1</a></dd></dl> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Cilium" title="Cilium">Cilia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <dl><dt>connecting cilia</dt> <dd><a href="/wiki/LCA5" title="LCA5">LCA5</a></dd> <dd><a href="/wiki/RP1" title="RP1">RP1</a></dd> <dd><a href="/wiki/RPGR" class="mw-redirect" title="RPGR">RPGR</a></dd> <dd><a href="/wiki/RPGRIP1" title="RPGRIP1">RPGRIP1</a></dd> <dd><a href="/wiki/TULP1" title="TULP1">TULP1</a></dd></dl> <dl><dt>primary cilia</dt> <dd><a href="/wiki/ARL13B" title="ARL13B">ARL13B</a></dd> <dd><a href="/wiki/INPP5E" title="INPP5E">INPP5E</a></dd> <dd><a href="/wiki/IQCB1" title="IQCB1">IQCB1</a></dd> <dd><a href="/wiki/Fibrocystin" title="Fibrocystin">PKHD1</a></dd> <dd><a href="/wiki/PKD1" class="mw-redirect" title="PKD1">PKD1</a></dd> <dd><a href="/wiki/Polycystic_kidney_disease_2" class="mw-redirect" title="Polycystic kidney disease 2">PKD2</a></dd> <dd><a href="/wiki/TMEM67" title="TMEM67">TMEM67</a></dd></dl> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dynein" title="Dynein">Dynein</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <dl><dt>outer dynein arms</dt> <dd><a href="/wiki/DNAH5" title="DNAH5">DNAH5</a></dd> <dd><a href="/wiki/DNAI2" title="DNAI2">DNAI2</a></dd> <dd><a href="/wiki/DNAL1" class="mw-redirect" title="DNAL1">DNAL1</a></dd></dl> <dl><dt><a href="/wiki/Axoneme" title="Axoneme">axoneme</a></dt> <dd><a href="/wiki/DNAH11" title="DNAH11">DNAH11</a></dd> <dd><a href="/wiki/DNAI1" title="DNAI1">DNAI1</a></dd></dl> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Radial_spoke" title="Radial spoke">Radial spokes</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/RSPH1" title="RSPH1">RSPH1</a></li> <li><a href="/wiki/RSPH3" title="RSPH3">RSPH3</a></li> <li><a href="/wiki/RSPH4A" title="RSPH4A">RSPH4A</a></li> <li><a href="/wiki/RSPH6A" title="RSPH6A">RSPH6A</a></li> <li><a href="/wiki/RSPH9" title="RSPH9">RSPH9</a></li> <li><a href="/wiki/RSPH10B" title="RSPH10B">RSPH10B</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <dl><dt><a href="/wiki/Cytoplasm" title="Cytoplasm">cytoplasm</a></dt> <dd><a href="/wiki/C14orf104" class="mw-redirect" title="C14orf104">KTU</a></dd></dl> <dl><dt><a href="/wiki/Cell_nucleus" title="Cell nucleus">nucleus</a></dt> <dd><a href="/wiki/GLIS2" title="GLIS2">GLIS2</a></dd></dl> <dl><dt><a href="/wiki/Intraflagellar_transport" title="Intraflagellar transport">intraflagellar transport</a></dt> <dd><a href="/wiki/IFT80" title="IFT80">IFT80</a></dd></dl> <dl><dt>other</dt> <dd><a href="/wiki/AHI1" title="AHI1">AHI1</a></dd> <dd><a href="/wiki/ARL13B" title="ARL13B">ARL13B</a></dd> <dd><a href="/wiki/BRCC3" title="BRCC3">BRCC3</a></dd> <dd><a href="/wiki/INPP5E" title="INPP5E">INPP5E</a></dd> <dd><a href="/wiki/KIF3A" title="KIF3A">KIF3A</a></dd> <dd><a href="/wiki/LRRC50" title="LRRC50">LRRC50</a></dd> <dd><a href="/wiki/SDCCAG8" title="SDCCAG8">SDCCAG8</a></dd> <dd><a href="/wiki/TMEM216" title="TMEM216">TMEM216</a></dd> <dd><a href="/wiki/TXNDC3" class="mw-redirect" title="TXNDC3">TXNDC3</a></dd></dl> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2" style="padding:0;"><div><i>see also: <a href="/wiki/Template:Ciliopathy" title="Template:Ciliopathy">ciliopathy</a></i></div></td></tr></tbody></table></div> <p><br /> </p> <style data-mw-deduplicate="TemplateStyles:r1012311289">.mw-parser-output .asbox{position:relative;overflow:hidden}.mw-parser-output .asbox table{background:transparent}.mw-parser-output .asbox p{margin:0}.mw-parser-output .asbox p+p{margin-top:0.25em}.mw-parser-output .asbox-body{font-style:italic}.mw-parser-output .asbox-note{font-size:smaller}.mw-parser-output .asbox .navbar{position:absolute;top:-0.75em;right:1em;display:none}</style><div role="note" class="metadata plainlinks asbox stub"><table role="presentation"><tbody><tr class="noresize"><td><span typeof="mw:File"><a href="/wiki/File:Myoglobin.png" class="mw-file-description"><img alt="Stub icon" src="//upload.wikimedia.org/wikipedia/commons/thumb/6/60/Myoglobin.png/30px-Myoglobin.png" decoding="async" width="30" height="30" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/60/Myoglobin.png/45px-Myoglobin.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/60/Myoglobin.png/60px-Myoglobin.png 2x" data-file-width="1159" data-file-height="1173" /></a></span></td><td><p class="asbox-body">This <a href="/wiki/Protein" title="Protein">protein</a>-related article is a <a href="/wiki/Wikipedia:Stub" title="Wikipedia:Stub">stub</a>. You can help Wikipedia by <a class="external text" href="https://en.wikipedia.org/w/index.php?title=BBS1&action=edit">expanding it</a>.</p></td></tr></tbody></table><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Protein-stub" title="Template:Protein-stub"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Protein-stub" title="Template talk:Protein-stub"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Protein-stub" title="Special:EditPage/Template:Protein-stub"><abbr title="Edit this template">e</abbr></a></li></ul></div></div> <!-- NewPP limit report Parsed by mw‐web.codfw.main‐694cf4987f‐zsszp Cached time: 20241126000023 Cache expiry: 86386 Reduced expiry: true Complications: [vary‐revision‐sha1, show‐toc] CPU time usage: 0.824 seconds Real time usage: 1.241 seconds Preprocessor visited node count: 1796/1000000 Post‐expand include size: 93801/2097152 bytes Template argument size: 1403/2097152 bytes Highest expansion depth: 23/100 Expensive parser function count: 35/500 Unstrip recursion depth: 1/20 Unstrip post‐expand size: 63483/5000000 bytes Lua time usage: 0.617/10.000 seconds Lua memory usage: 9645475/52428800 bytes Number of Wikibase entities loaded: 33/400 --> <!-- Transclusion expansion time report (%,ms,calls,template) 100.00% 1104.930 1 -total 62.86% 694.603 1 Template:Infobox_gene 8.58% 94.857 1 Template:Short_description 8.36% 92.330 1 Template:Ciliary_proteins 7.99% 88.279 15 Template:Cite_journal 7.96% 87.982 1 Template:Navbox 4.28% 47.294 1 Template:Reflist 4.19% 46.307 1 Template:Update_after 3.96% 43.722 5 Template:Main_other 3.69% 40.741 1 Template:SDcat --> <!-- Saved in parser cache with key enwiki:pcache:idhash:14875238-0!canonical and timestamp 20241126000023 and revision id 1116815014. 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