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KNL1
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<h2 id="function">Function</h2> <p>KNL1 is part of the outer <a href="/facts/Kinetochore/KsQ45gI0">kinetochore</a>. It is a part of KMN network of proteins together with <a href="/facts/MIS12/7r72Alku">MIS12</a>, and <a href="/facts/NDC80/KrA0YBwv">NDC80</a>.<a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> </p><p>KNL1 is involved in <a href="/facts/Microtubule/ENL1TxSe">microtubule</a> attachment to chromosome centromeres and in the activation of the <a href="/facts/Spindle_checkpoint/4d5CB3on">spindle checkpoint</a> during mitosis. The <i>CASC5</i> gene is <a href="/facts/Upregulated/6nRoa28r">upregulated</a> in the areas of cell proliferation surrounding the ventricles during fetal brain development.<a class="footnote-ref" id="fnref:6" href="#fn:6"><sup>6</sup></a> </p> <h2 id="interactions">Interactions</h2> <p>CASC5 has been shown to <a href="/facts/Protein-protein_interaction/etvm9Wmg">interact</a> with <a href="/facts/MIS12/7r72Alku">MIS12</a>,<a class="footnote-ref" id="fnref:7" href="#fn:7"><sup>7</sup></a><a class="footnote-ref" id="fnref:8" href="#fn:8"><sup>8</sup></a> <a href="/facts/BUB1/dIpxVRqd">BUB1</a>, BUBR1 and <a href="/facts/ZWINT/BxYhDuG3">ZWINT-1</a>.<a class="footnote-ref" id="fnref:9" href="#fn:9"><sup>9</sup></a> </p> <h2 id="polymorphisms">Polymorphisms</h2> <p>Homozygous <a href="/facts/Single_nucleotide_polymorphisms/Qy5Y2wom">polymorphisms</a> in the <i>CASC5</i> gene have been seen in patients with autosomal recessive primary <a href="/facts/Microcephaly/lv4QGEIa">microcephaly</a> (MCPH). The mutation resulted in the skipping of exon 18 <a href="/facts/Transcription_(genetics)/bDgp9HDN">transcription</a>, causing a <a href="/facts/Frameshift/NCXL6kAD">frameshift</a> and the production of a truncated protein. This truncation inhibits the binding ability of MIS12.<a class="footnote-ref" id="fnref:10" href="#fn:10"><sup>10</sup></a> </p> <h2 id="external-links">External links</h2> <ul><li>Human <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&singleSearch=knownCanonical&position=CASC5"><i>CASC5</i></a> genome location and <a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=CASC5"><i>CASC5</i></a> gene details page in the <a href="/facts/UCSC_Genome_Browser/kwumPyLb">UCSC Genome Browser</a>.</li></ul> <h2 id="further-reading">Further reading</h2> <ul><li>Ray ME, Su YA, Meltzer PS, Trent JM (June 1996). "Isolation and characterization of genes associated with chromosome-6 mediated tumor suppression in human malignant melanoma". <i>Oncogene</i>. 12 (12): 2527–33. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8700511">8700511</a>.</li> <li>Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O (August 2000). <a href="https://doi.org/10.1093%2Fdnares%2F7.4.271">"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro"</a>. <i>DNA Research</i>. 7 (4): 273–81. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Fdnares%2F7.4.271">10.1093/dnares/7.4.271</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10997877">10997877</a>.</li> <li>Takimoto M, Wei G, Dosaka-Akita H, Mao P, Kondo S, Sakuragi N, Chiba I, Miura T, Itoh N, Sasao T, Koya RC, Tsukamoto T, Fujimoto S, Katoh H, Kuzumaki N (June 2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375411">"Frequent expression of new cancer/testis gene D40/AF15q14 in lung cancers of smokers"</a>. <i>British Journal of Cancer</i>. 86 (11): 1757–62. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fsj.bjc.6600328">10.1038/sj.bjc.6600328</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2375411">2375411</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12087463">12087463</a>.</li> <li>Chinwalla V, Chien A, Odero M, Neilly MB, Zeleznik-Le NJ, Rowley JD (March 2003). <a href="https://doi.org/10.1038%2Fsj.onc.1206273">"A t(11;15) fuses MLL to two different genes, AF15q14 and a novel gene MPFYVE on chromosome 15"</a>. <i>Oncogene</i>. 22 (9): 1400–10. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fsj.onc.1206273">10.1038/sj.onc.1206273</a>. <a href="/facts/Hdl_(identifier)/rdebSxmC">hdl</a>:<a href="https://hdl.handle.net/10171%2F19622">10171/19622</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12618766">12618766</a>.</li> <li>Kuefer MU, Chinwalla V, Zeleznik-Le NJ, Behm FG, Naeve CW, Rakestraw KM, Mukatira ST, Raimondi SC, Morris SW (March 2003). <a href="https://doi.org/10.1038%2Fsj.onc.1206272">"Characterization of the MLL partner gene AF15q14 involved in t(11;15)(q23;q14)"</a>. <i>Oncogene</i>. 22 (9): 1418–24. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fsj.onc.1206272">10.1038/sj.onc.1206272</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12618768">12618768</a>.</li> <li>Cheeseman IM, Niessen S, Anderson S, Hyndman F, Yates JR, Oegema K, Desai A (September 2004). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC517519">"A conserved protein network controls assembly of the outer kinetochore and its ability to sustain tension"</a>. <i>Genes & Development</i>. 18 (18): 2255–68. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgad.1234104">10.1101/gad.1234104</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC517519">517519</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15371340">15371340</a>.</li> <li>Obuse C, Iwasaki O, Kiyomitsu T, Goshima G, Toyoda Y, Yanagida M (November 2004). "A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1". <i>Nature Cell Biology</i>. 6 (11): 1135–41. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fncb1187">10.1038/ncb1187</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15502821">15502821</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:39408000">39408000</a>.</li> <li>Sasao T, Itoh N, Takano H, Watanabe S, Wei G, Tsukamoto T, Kuzumaki N, Takimoto M (December 2004). <a href="https://doi.org/10.1530%2Frep.1.00312">"The protein encoded by cancer/testis gene D40/AF15q14 is localized in spermatocytes, acrosomes of spermatids and ejaculated spermatozoa"</a>. <i>Reproduction</i>. 128 (6): 709–16. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1530%2Frep.1.00312">10.1530/rep.1.00312</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15579588">15579588</a>.</li> <li>Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 2006). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1459365">"Phosphoproteome analysis of the human mitotic spindle"</a>. <i>Proceedings of the National Academy of Sciences of the United States of America</i>. 103 (14): 5391–6. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2006PNAS..103.5391N">2006PNAS..103.5391N</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.0507066103">10.1073/pnas.0507066103</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1459365">1459365</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16565220">16565220</a>.</li> <li>Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). <a href="https://doi.org/10.1016%2Fj.cell.2006.09.026">"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks"</a>. <i>Cell</i>. 127 (3): 635–48. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2Fj.cell.2006.09.026">10.1016/j.cell.2006.09.026</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/17081983">17081983</a>.</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>"Entrez Gene: CASC5 cancer susceptibility candidate 5". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57082" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57082</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Hayette S, Tigaud I, Vanier A, Martel S, Corbo L, Charrin C, Beillard E, Deleage G, Magaud JP, Rimokh R (September 2000). "AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14)". Oncogene. 19 (38): 4446–50. doi:10.1038/sj.onc.1203789. PMID 10980622. S2CID 8540747. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>Wei G, Takimoto M, Yoshida I, Mao PZ, Koya RC, Miura T, Kuzumaki N (Jun 2000). "Chromosomal assignment of a novel human gene D40". Nucleic Acids Symposium Series. 42 (42): 71–2. doi:10.1093/nass/42.1.71. PMID 10780384. <a href="https://doi.org/10.1093%2Fnass%2F42.1.71" target="_blank">https://doi.org/10.1093%2Fnass%2F42.1.71</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Cheeseman IM, Hori T, Fukagawa T, Desai A (February 2008). "KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates". Molecular Biology of the Cell. 19 (2): 587–94. doi:10.1091/mbc.E07-10-1051. PMC 2230600. PMID 18045986. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2230600" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2230600</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>D'Archivio S, Wickstead B (February 2017). "Trypanosome outer kinetochore proteins suggest conservation of chromosome segregation machinery across eukaryotes". The Journal of Cell Biology. 216 (2): 379–391. doi:10.1083/jcb.201608043. PMC 5294786. PMID 28034897. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294786" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294786</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> <li id="fn:6"><p>Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M (December 2012). "Kinetochore KMN network gene CASC5 mutated in primary microcephaly". Human Molecular Genetics. 21 (24): 5306–17. doi:10.1093/hmg/dds386. PMID 22983954. <a href="https://doi.org/10.1093%2Fhmg%2Fdds386" target="_blank">https://doi.org/10.1093%2Fhmg%2Fdds386</a> <a href="#fnref:6" class="footnote-back-ref">↩</a></p></li> <li id="fn:7"><p>Cheeseman IM, Niessen S, Anderson S, Hyndman F, Yates JR, Oegema K, Desai A (September 2004). "A conserved protein network controls assembly of the outer kinetochore and its ability to sustain tension". Genes & Development. 18 (18): 2255–68. doi:10.1101/gad.1234104. PMC 517519. PMID 15371340. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC517519" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC517519</a> <a href="#fnref:7" class="footnote-back-ref">↩</a></p></li> <li id="fn:8"><p>Obuse C, Iwasaki O, Kiyomitsu T, Goshima G, Toyoda Y, Yanagida M (November 2004). "A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1". Nature Cell Biology. 6 (11): 1135–41. doi:10.1038/ncb1187. PMID 15502821. S2CID 39408000. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:8" class="footnote-back-ref">↩</a></p></li> <li id="fn:9"><p>Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M (December 2012). "Kinetochore KMN network gene CASC5 mutated in primary microcephaly". Human Molecular Genetics. 21 (24): 5306–17. doi:10.1093/hmg/dds386. PMID 22983954. <a href="https://doi.org/10.1093%2Fhmg%2Fdds386" target="_blank">https://doi.org/10.1093%2Fhmg%2Fdds386</a> <a href="#fnref:9" class="footnote-back-ref">↩</a></p></li> <li id="fn:10"><p>Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M (December 2012). "Kinetochore KMN network gene CASC5 mutated in primary microcephaly". Human Molecular Genetics. 21 (24): 5306–17. doi:10.1093/hmg/dds386. PMID 22983954. <a href="https://doi.org/10.1093%2Fhmg%2Fdds386" target="_blank">https://doi.org/10.1093%2Fhmg%2Fdds386</a> <a href="#fnref:10" class="footnote-back-ref">↩</a></p></li> </ol>