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PHC1
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<h2 id="function">Function</h2> <p>This gene is a homolog of the <i><a href="/facts/Drosophila/P4K7RkJl">Drosophila</a></i> polyhomeotic gene, which is a member of the <a href="/facts/Polycomb-group_proteins/E423JLth">Polycomb</a> group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein <a href="/facts/BMI1/cI4eN4yQ">BMI1</a>. The gene product, the EDR2 protein, and the <i>Drosophila</i> polyhomeotic protein share two highly conserved domains, named homology domains I and II. These domains are involved in <a href="/facts/Protein%25E2%2580%2593protein_interactions/etvm9Wmg">protein–protein interactions</a> and may mediate <a href="/facts/Heterodimerization/c8LwFJPG">heterodimerization</a> of the protein encoded by this gene and the EDR2 protein.<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a> </p><p>Mutations in this gene have been associated to cases of primary <a href="/facts/Microcephaly/lv4QGEIa">microcephaly</a>.<a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> </p> <h2 id="interactions">Interactions</h2> <p>PHC1 has been shown to <a href="/facts/Protein-protein_interaction/etvm9Wmg">interact</a> with <a href="/facts/BMI1/cI4eN4yQ">BMI1</a><a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a><a class="footnote-ref" id="fnref:6" href="#fn:6"><sup>6</sup></a> and <a href="/facts/PHC2/Rshnn9Ke">PHC2</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> </p> <h2 id="further-reading">Further reading</h2> <ul><li>Alkema MJ, Bronk M, Verhoeven E, Otte A, van 't Veer LJ, Berns A, van Lohuizen M (Jan 1997). <a href="https://doi.org/10.1101%2Fgad.11.2.226">"Identification of Bmi1-interacting proteins as constituents of a multimeric mammalian polycomb complex"</a>. <i>Genes & Development</i>. 11 (2): 226–40. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1101%2Fgad.11.2.226">10.1101/gad.11.2.226</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9009205">9009205</a>.</li> <li>Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, Saurin AJ, Freemont PS, van Driel R, Otte AP (Jul 1997). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232264">"RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor"</a>. <i>Molecular and Cellular Biology</i>. 17 (7): 4105–13. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1128%2Fmcb.17.7.4105">10.1128/mcb.17.7.4105</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232264">232264</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9199346">9199346</a>.</li> <li>Tomotsune D, Takihara Y, Berger J, Duhl D, Joo S, Kyba M, Shirai M, Ohta H, Matsuda Y, Honda BM, Simon J, Shimada K, Brock HW, Randazzo F (Dec 1999). "A novel member of murine Polycomb-group proteins, Sex comb on midleg homolog protein, is highly conserved, and interacts with RAE28/mph1 in vitro". <i>Differentiation; Research in Biological Diversity</i>. 65 (4): 229–39. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1046%2Fj.1432-0436.1999.6540229.x">10.1046/j.1432-0436.1999.6540229.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10653359">10653359</a>.</li> <li>Ohta H, Tokimasa S, Zou Z, Funaki S, Kurahashi H, Takahashi Y, Kimura M, Matsuoka R, Horie M, Hara J, Shimada K, Takihara Y (2000). "Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene". <i>DNA Sequence</i>. 11 (1–2): 61–73. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.3109%2F10425170009033970">10.3109/10425170009033970</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10902910">10902910</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:12637692">12637692</a>.</li> <li>Levine SS, Weiss A, Erdjument-Bromage H, Shao Z, Tempst P, Kingston RE (Sep 2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC134016">"The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans"</a>. <i>Molecular and Cellular Biology</i>. 22 (17): 6070–8. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1128%2FMCB.22.17.6070-6078.2002">10.1128/MCB.22.17.6070-6078.2002</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC134016">134016</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12167701">12167701</a>.</li> <li>Suzuki M, Mizutani-Koseki Y, Fujimura Y, Miyagishima H, Kaneko T, Takada Y, Akasaka T, Tanzawa H, Takihara Y, Nakano M, Masumoto H, Vidal M, Isono K, Koseki H (Sep 2002). "Involvement of the Polycomb-group gene Ring1B in the specification of the anterior-posterior axis in mice". <i>Development</i>. 129 (18): 4171–83. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1242%2Fdev.129.18.4171">10.1242/dev.129.18.4171</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12183370">12183370</a>.</li> <li>Luo L, Yang X, Takihara Y, Knoetgen H, Kessel M (Feb 2004). <a href="http://pubman.mpdl.mpg.de/pubman/item/escidoc:598780/component/escidoc:598779/218915.pdf">"The cell-cycle regulator geminin inhibits Hox function through direct and polycomb-mediated interactions"</a> (PDF). <i>Nature</i>. 427 (6976): 749–53. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2004Natur.427..749L">2004Natur.427..749L</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fnature02305">10.1038/nature02305</a>. <a href="/facts/Hdl_(identifier)/rdebSxmC">hdl</a>:<a href="https://hdl.handle.net/11858%2F00-001M-0000-0012-EE33-0">11858/00-001M-0000-0012-EE33-0</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/14973489">14973489</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:8020382">8020382</a>.</li> <li>Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". <i>Nature Biotechnology</i>. 22 (6): 707–16. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fnbt971">10.1038/nbt971</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15146197">15146197</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:27764390">27764390</a>.</li> <li>Wang H, Wang L, Erdjument-Bromage H, Vidal M, Tempst P, Jones RS, Zhang Y (Oct 2004). "Role of histone H2A ubiquitination in Polycomb silencing". <i>Nature</i>. 431 (7010): 873–8. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2004Natur.431..873W">2004Natur.431..873W</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fnature02985">10.1038/nature02985</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15386022">15386022</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:4344378">4344378</a>.</li> <li>Voncken JW, Niessen H, Neufeld B, Rennefahrt U, Dahlmans V, Kubben N, Holzer B, Ludwig S, Rapp UR (Feb 2005). <a href="https://doi.org/10.1074%2Fjbc.M407155200">"MAPKAP kinase 3pK phosphorylates and regulates chromatin association of the polycomb group protein Bmi1"</a>. <i>The Journal of Biological Chemistry</i>. 280 (7): 5178–87. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M407155200">10.1074/jbc.M407155200</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15563468">15563468</a>.</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, van Lohuizen M, van Driel R, Otte AP (Apr 1997). "Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic". Molecular and Cellular Biology. 17 (4): 2326–35. doi:10.1128/mcb.17.4.2326. PMC 232081. PMID 9121482. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232081" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232081</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>"Entrez Gene: PHC1 polyhomeotic homolog 1 (Drosophila)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1911" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1911</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Entrez Gene: PHC1 polyhomeotic homolog 1 (Drosophila)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1911" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1911</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Awad, Salma; Al-Dosari, Mohammed S; Al-Yacoub, Nadya; Colak, Dilek; Salih, Mustafa A; Alkuraya, Fowzan S; Poizat, Coralie (2013-06-01). "Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis". Human Molecular Genetics. 22 (11): 2200–2213. doi:10.1093/hmg/ddt072. ISSN 1460-2083. PMID 23418308. <a href="https://doi.org/10.1093%2Fhmg%2Fddt072" target="_blank">https://doi.org/10.1093%2Fhmg%2Fddt072</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, van Lohuizen M, van Driel R, Otte AP (Apr 1997). "Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic". Molecular and Cellular Biology. 17 (4): 2326–35. doi:10.1128/mcb.17.4.2326. PMC 232081. PMID 9121482. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232081" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232081</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> <li id="fn:6"><p>Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, Saurin AJ, Freemont PS, van Driel R, Otte AP (Jul 1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Molecular and Cellular Biology. 17 (7): 4105–13. doi:10.1128/mcb.17.7.4105. PMC 232264. PMID 9199346. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232264" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232264</a> <a href="#fnref:6" class="footnote-back-ref">↩</a></p></li> <li id="fn:7"><p>Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, van Lohuizen M, van Driel R, Otte AP (Apr 1997). "Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic". Molecular and Cellular Biology. 17 (4): 2326–35. doi:10.1128/mcb.17.4.2326. PMC 232081. PMID 9121482. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232081" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC232081</a> <a href="#fnref:7" class="footnote-back-ref">↩</a></p></li> <li id="fn:8"><p>Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026. <a href="/wiki/Bibcode_(identifier)" target="_blank">/wiki/Bibcode_(identifier)</a> <a href="#fnref:8" class="footnote-back-ref">↩</a></p></li> </ol>