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NPHP1
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<h2 id="function">Function</h2> <p>This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.<a class="footnote-ref" id="fnref:2" href="#fn:2"><sup>2</sup></a> </p> <h2 id="interactions">Interactions</h2> <p>NPHP1 has been shown to <a href="/facts/Protein-protein_interaction/etvm9Wmg">interact</a> with <a href="/facts/BCAR1/b0nN7UAL">BCAR1</a>,<a class="footnote-ref" id="fnref:3" href="#fn:3"><sup>3</sup></a><a class="footnote-ref" id="fnref:4" href="#fn:4"><sup>4</sup></a> <a href="/facts/PTK2B/bESQee1h">PTK2B</a>,<a class="footnote-ref" id="fnref:5" href="#fn:5"><sup>5</sup></a> <a href="/facts/Filamin/G8qVdIrW">Filamin</a><a class="footnote-ref" id="fnref:6" href="#fn:6"><sup>6</sup></a> and <a href="/facts/INVS/rHtVawz0">INVS</a>.<a class="footnote-ref" id="fnref:7" href="#fn:7"><sup>7</sup></a> </p> <h2 id="further-reading">Further reading</h2> <ul><li>Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C (Apr 1998). "Familial juvenile nephronophthisis". <i>Journal of Molecular Medicine</i>. 76 (5): 310–6. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1007%2Fs001090050222">10.1007/s001090050222</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9587065">9587065</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:21330229">21330229</a>.</li> <li>Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM (Dec 1998). "Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus". <i>American Journal of Kidney Diseases</i>. 32 (6): 1059–62. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0272-6386%2898%2970083-6">10.1016/S0272-6386(98)70083-6</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9856524">9856524</a>.</li> <li>Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C (Jul 1994). "Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity". <i>Genomics</i>. 22 (2): 296–301. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fgeno.1994.1387">10.1006/geno.1994.1387</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/7806215">7806215</a>.</li> <li>Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". <i>Gene</i>. 138 (1–2): 171–4. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2F0378-1119%2894%2990802-8">10.1016/0378-1119(94)90802-8</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8125298">8125298</a>.</li> <li>Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C (Mar 1996). <a href="https://doi.org/10.1093%2Fhmg%2F5.3.367">"Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis"</a>. <i>Human Molecular Genetics</i>. 5 (3): 367–71. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Fhmg%2F5.3.367">10.1093/hmg/5.3.367</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/8852662">8852662</a>.</li> <li>Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M (Oct 1997). "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1". <i>Nature Genetics</i>. 17 (2): 149–53. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng1097-149">10.1038/ng1097-149</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9326933">9326933</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:38035697">38035697</a>.</li> <li>Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C (Dec 1997). <a href="https://doi.org/10.1093%2Fhmg%2F6.13.2317">"A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis"</a>. <i>Human Molecular Genetics</i>. 6 (13): 2317–23. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1093%2Fhmg%2F6.13.2317">10.1093/hmg/6.13.2317</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9361039">9361039</a>.</li> <li>Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". <i>Gene</i>. 200 (1–2): 149–56. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1016%2FS0378-1119%2897%2900411-3">10.1016/S0378-1119(97)00411-3</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/9373149">9373149</a>.</li> <li>Otto E, Kispert A, Lescher B, Rensing C, Hildebrandt F (Feb 2000). <a href="https://doi.org/10.1681%2FASN.V112270">"Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans"</a>. <i>Journal of the American Society of Nephrology</i>. 11 (2): 270–82. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1681%2FASN.V112270">10.1681/ASN.V112270</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10665934">10665934</a>.</li> <li>Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C (Mar 2000). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288163">"Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis"</a>. <i>American Journal of Human Genetics</i>. 66 (3): 778–89. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1086%2F302819">10.1086/302819</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288163">1288163</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10712196">10712196</a>.</li> <li>Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". <i>Experimental Cell Research</i>. 256 (1): 168–78. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1006%2Fexcr.2000.4822">10.1006/excr.2000.4822</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10739664">10739664</a>.</li> <li>Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (Jun 2000). "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis". <i>The Journal of Pediatrics</i>. 136 (6): 828–31. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1067%2Fmpd.2000.106225">10.1067/mpd.2000.106225</a> (inactive 1 November 2024). <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/10839884">10839884</a>.{{cite journal}}: CS1 maint: DOI inactive as of November 2024 (link)</li> <li>Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug 2001). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC55530">"Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2"</a>. <i>Proceedings of the National Academy of Sciences of the United States of America</i>. 98 (17): 9784–9. <a href="/facts/Bibcode_(identifier)/9HtdQSGB">Bibcode</a>:<a href="https://ui.adsabs.harvard.edu/abs/2001PNAS...98.9784B">2001PNAS...98.9784B</a>. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1073%2Fpnas.171269898">10.1073/pnas.171269898</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC55530">55530</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/11493697">11493697</a>.</li> <li>Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). <a href="https://doi.org/10.1074%2Fjbc.M111697200">"Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity"</a>. <i>The Journal of Biological Chemistry</i>. 277 (32): 29028–35. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1074%2Fjbc.M111697200">10.1074/jbc.M111697200</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12006559">12006559</a>.</li> <li>Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhäger R, Sudbrak R, Hennies HC, Nürnberg P, Hildebrandt F (Nov 2002). <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC385091">"A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution"</a>. <i>American Journal of Human Genetics</i>. 71 (5): 1161–7. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1086%2F344395">10.1086/344395</a>. <a href="/facts/PMC_(identifier)/dX1zMt71">PMC</a> <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC385091">385091</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12205563">12205563</a>.</li> <li>Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S (Oct 2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". <i>Nature Genetics</i>. 32 (2): 300–5. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng996">10.1038/ng996</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12244321">12244321</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:24216974">24216974</a>.</li> <li>Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H (Aug 2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis". <i>Nature Genetics</i>. 34 (4): 455–9. <a href="/facts/Doi_(identifier)/muM9Etpq">doi</a>:<a href="https://doi.org/10.1038%2Fng1216">10.1038/ng1216</a>. <a href="/facts/PMID_(identifier)/JlHAvMHt">PMID</a> <a href="https://pubmed.ncbi.nlm.nih.gov/12872122">12872122</a>. <a href="/facts/S2CID_(identifier)/ldJsHa2Y">S2CID</a> <a href="https://api.semanticscholar.org/CorpusID:22062277">22062277</a>.</li></ul> <h2 id="references">References</h2> <ol> <li id="fn:1"><p>"Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4867" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4867</a> <a href="#fnref:1" class="footnote-back-ref">↩</a></p></li> <li id="fn:2"><p>"Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)". <a href="https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4867" target="_blank">https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4867</a> <a href="#fnref:2" class="footnote-back-ref">↩</a></p></li> <li id="fn:3"><p>Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Experimental Cell Research. 256 (1): 168–78. doi:10.1006/excr.2000.4822. PMID 10739664. <a href="/wiki/Doi_(identifier)" target="_blank">/wiki/Doi_(identifier)</a> <a href="#fnref:3" class="footnote-back-ref">↩</a></p></li> <li id="fn:4"><p>Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug 2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. Bibcode:2001PNAS...98.9784B. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC55530" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC55530</a> <a href="#fnref:4" class="footnote-back-ref">↩</a></p></li> <li id="fn:5"><p>Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G (Aug 2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. Bibcode:2001PNAS...98.9784B. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC55530" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC55530</a> <a href="#fnref:5" class="footnote-back-ref">↩</a></p></li> <li id="fn:6"><p>Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". The Journal of Biological Chemistry. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559. <a href="https://doi.org/10.1074%2Fjbc.M111697200" target="_blank">https://doi.org/10.1074%2Fjbc.M111697200</a> <a href="#fnref:6" class="footnote-back-ref">↩</a></p></li> <li id="fn:7"><p>Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F (Aug 2003). "Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination". Nature Genetics. 34 (4): 413–20. doi:10.1038/ng1217. PMC 3732175. PMID 12872123. <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3732175" target="_blank">https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3732175</a> <a href="#fnref:7" class="footnote-back-ref">↩</a></p></li> </ol>