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CLDN1
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<h2 id="function">Function</h2> <p>Tight junctions represent one mode of cell-to-cell adhesion in <a href="/facts/Epithelial_cell/ecKHcHC3">epithelial</a> or <a href="/facts/Endothelial_cell/L4ENFVnw">endothelial</a> cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are composed of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the <a href="/facts/Claudin/rElNDYnz">claudin</a> family, is an integral membrane protein and a component of tight junction strands. Loss of function mutations result in <a href="/facts/Neonatal_ichthyosis%25E2%2580%2593sclerosing_cholangitis_syndrome/YDFkjf8j">neonatal ichthyosis-sclerosing cholangitis syndrome</a>.<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a> </p> <h2 id="interactions">Interactions</h2> <p>CLDN1 has been shown to <a href="/facts/Protein-protein_interaction/etvm9Wmg">interact</a> with <a href="/facts/CLDN5/maNL31IC">CLDN5</a><a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> and <a href="/facts/CLDN3/GHTIwgkU">CLDN3</a>.<a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</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=CLDN1"><i>CLDN1</i></a> genome location and <a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_type=knownGene&hgg_gene=CLDN1"><i>CLDN1</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>Kniesel U, Wolburg H (2000). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537529">"Tight junctions of the blood-brain barrier"</a>. <i>Cell. Mol. Neurobiol</i>. 20 (1): 57–76. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1023%2FA%3A1006995910836">10.1023/A:1006995910836</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11537529">11537529</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10690502">10690502</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:26473781">26473781</a>.</li> <li>Heiskala M, Peterson PA, Yang Y (2001). "The roles of claudin superfamily proteins in paracellular transport". <i>Traffic</i>. 2 (2): 93–8. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1034%2Fj.1600-0854.2001.020203.x">10.1034/j.1600-0854.2001.020203.x</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11247307">11247307</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:12132159">12132159</a>.</li> <li>Tsukita S, Furuse M, Itoh M (2001). "Multifunctional strands in tight junctions". <i>Nat. Rev. Mol. Cell Biol</i>. 2 (4): 285–93. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2F35067088">10.1038/35067088</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11283726">11283726</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:36524601">36524601</a>.</li> <li>Tsukita S, Furuse M (2002). "Claudin-based barrier in simple and stratified cellular sheets". <i>Curr. Opin. Cell Biol</i>. 14 (5): 531–6. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0955-0674%2802%2900362-9">10.1016/S0955-0674(02)00362-9</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12231346">12231346</a>.</li> <li>González-Mariscal L, Betanzos A, Nava P, Jaramillo BE (2003). "Tight junction proteins". <i>Prog. Biophys. Mol. Biol</i>. 81 (1): 1–44. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0079-6107%2802%2900037-8">10.1016/S0079-6107(02)00037-8</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12475568">12475568</a>.</li> <li>Swisshelm K, Macek R, Kubbies M (2005). "Role of claudins in tumorigenesis". <i>Adv. Drug Deliv. Rev</i>. 57 (6): 919–28. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2Fj.addr.2005.01.006">10.1016/j.addr.2005.01.006</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/15820559">15820559</a>.</li> <li>King JE, Eugenin EA, Buckner CM, Berman JW (2006). <a href="https://doi.org/10.1016%2Fj.micinf.2005.11.014">"HIV tat and neurotoxicity"</a>. <i>Microbes Infect</i>. 8 (5): 1347–57. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2Fj.micinf.2005.11.014">10.1016/j.micinf.2005.11.014</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/16697675">16697675</a>.</li> <li>Ye J (2007). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1959368">"Reliance of host cholesterol metabolic pathways for the life cycle of hepatitis C virus"</a>. <i>PLOS Pathog</i>. 3 (8): e108. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1371%2Fjournal.ppat.0030108">10.1371/journal.ppat.0030108</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1959368">1959368</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/17784784">17784784</a>.</li> <li>Furuse M, Fujita K, Hiiragi T, Fujimoto K, Tsukita S (1998). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2132999">"Claudin-1 and -2: novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin"</a>. <i>J. Cell Biol</i>. 141 (7): 1539–50. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1083%2Fjcb.141.7.1539">10.1083/jcb.141.7.1539</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2132999">2132999</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9647647">9647647</a>.</li> <li>Swisshelm K, Machl A, Planitzer S, Robertson R, Kubbies M, Hosier S (1999). "SEMP1, a senescence-associated cDNA isolated from human mammary epithelial cells, is a member of an epithelial membrane protein superfamily". <i>Gene</i>. 226 (2): 285–95. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0378-1119%2898%2900553-8">10.1016/S0378-1119(98)00553-8</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9931503">9931503</a>.</li> <li>Furuse M, Sasaki H, Tsukita S (1999). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2156154">"Manner of interaction of heterogeneous claudin species within and between tight junction strands"</a>. <i>J. Cell Biol</i>. 147 (4): 891–903. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1083%2Fjcb.147.4.891">10.1083/jcb.147.4.891</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2156154">2156154</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10562289">10562289</a>.</li> <li>Itoh M, Furuse M, Morita K, Kubota K, Saitou M, Tsukita S (1999). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2168087">"Direct binding of three tight junction-associated MAGUKs, ZO-1, ZO-2, and ZO-3, with the COOH termini of claudins"</a>. <i>J. Cell Biol</i>. 147 (6): 1351–63. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1083%2Fjcb.147.6.1351">10.1083/jcb.147.6.1351</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2168087">2168087</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10601346">10601346</a>.</li> <li>Krämer F, White K, Kubbies M, Swisshelm K, Weber BH (2000). "Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer". <i>Hum. Genet</i>. 107 (3): 249–56. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2Fs004390000375">10.1007/s004390000375</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11071387">11071387</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:24898101">24898101</a>.</li> <li>Miyamori H, Takino T, Kobayashi Y, Tokai H, Itoh Y, Seiki M, Sato H (2001). <a href="https://doi.org/10.1074%2Fjbc.M103083200">"Claudin promotes activation of pro-matrix metalloproteinase-2 mediated by membrane-type matrix metalloproteinases"</a>. <i>J. Biol. Chem</i>. 276 (30): 28204–11. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M103083200">10.1074/jbc.M103083200</a>. <a href="/facts/Hdl_(identifier)/rdebSxmC">hdl</a>:<a href="https://hdl.handle.net/2297%2F15688">2297/15688</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11382769">11382769</a>.</li> <li>Hamazaki Y, Itoh M, Sasaki H, Furuse M, Tsukita S (2002). <a href="https://doi.org/10.1074%2Fjbc.M109005200">"Multi-PDZ domain protein 1 (MUPP1) is concentrated at tight junctions through its possible interaction with claudin-1 and junctional adhesion molecule"</a>. <i>J. Biol. Chem</i>. 277 (1): 455–61. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M109005200">10.1074/jbc.M109005200</a>. <a href="/facts/Hdl_(identifier)/rdebSxmC">hdl</a>:<a href="https://hdl.handle.net/2433%2F148697">2433/148697</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11689568">11689568</a>.</li> <li>Liu F, Koval M, Ranganathan S, Fanayan S, Hancock WS, Lundberg EK, Beavis RC, Lane L, Duek P, McQuade L, Kelleher NL, Baker MS (2015). <a href="https://archive-ouverte.unige.ch/unige:79118/ATTACHMENT01">"A systems proteomics view of the endogenous human claudin protein family"</a>. <i>J Proteome Res</i>. 15 (2): 339–359. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1021%2Facs.jproteome.5b00769">10.1021/acs.jproteome.5b00769</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777318">4777318</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/26680015">26680015</a>.</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>Halford S, Spencer P, Greenwood J, Winton H, Hunt DM, Adamson P (Jun 2000). "Assignment of claudin-1 (CLDN1) to human chromosome 3q28-->q29 with somatic cell hybrids". Cytogenet. Cell Genet. 88 (3–4): 217. doi:10.1159/000015553. PMID 10828592. S2CID 8896678. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>Morita K, Furuse M, Fujimoto K, Tsukita S (Mar 1999). "Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands". Proc. Natl. Acad. Sci. U.S.A. 96 (2): 511–6. Bibcode:1999PNAS...96..511M. doi:10.1073/pnas.96.2.511. PMC 15167. PMID 9892664. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC15167" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC15167</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>"Entrez Gene: CLDN1 claudin 1". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9076" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9076</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG (Nov 2003). "Role of claudin interactions in airway tight junctional permeability". Am. J. Physiol. Lung Cell Mol. Physiol. 285 (5): L1166-78. doi:10.1152/ajplung.00182.2003. PMID 12909588. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Coyne CB, Gambling TM, Boucher RC, Carson JL, Johnson LG (Nov 2003). "Role of claudin interactions in airway tight junctional permeability". Am. J. Physiol. Lung Cell Mol. Physiol. 285 (5): L1166-78. doi:10.1152/ajplung.00182.2003. PMID 12909588. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> </ol>