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<span>NPHP1 gene</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/gene/nphp1/</span>
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<article>
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<div class="page-title">
<a name="start" id="start"></a>
<h1 class="with-also">NPHP1 gene</h1>
<span class="alsocalled">nephrocystin 1</span>
</div>
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<div class="mp-exp exp-full" data-bookmark="function">
<h2>Normal Function</h2>
<section><div class="mp-content"><p>The <i>NPHP1</i> gene provides instructions for making the nephrocystin-1 protein. This protein is thought to play a role in cell structures called cilia, which are microscopic, finger-like projections that stick out from the surface of cells. Cilia participate in signaling pathways that transmit information within and between cells and are important for the development and function of many types of cells and tissues. Nephrocystin-1 is found at the base of cilia in cells of the kidneys, respiratory tract, and the light-sensitive tissue at the back of the eye (the retina). Although the specific function of nephrocystin-1 is not well understood, it is thought to interact with a number of other proteins as part of a large protein complex that may be important for normal cilia function.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="conditions">
<h2>Health Conditions Related to Genetic Changes</h2>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Nephronophthisis</h3>
<p>At least 23 mutations in the <i>NPHP1</i> gene have been found to cause a kidney disorder called nephronophthisis type 1. Type 1 is the most common type of nephronophthisis, accounting for approximately 20 percent of cases of the disorder. Nephronophthisis is characterized by inflammation and scarring of the kidneys and ultimately leads to a life-threatening failure of kidney function (end-stage renal disease or ESRD). In nephronophthisis type 1, ESRD usually occurs around age 13.</p><p>The most common genetic change in nephronophthisis type 1 is a large deletion on chromosome 2 that removes the whole <i>NPHP1</i> gene. Other deletions that remove all or most of the gene or a small portion of the gene can also be involved in this condition. Some mutations change single protein building blocks (amino acids) or lead to an abnormally short nephrocystin-1 protein. It is thought that people with nephronophthisis type 1 have little or no functional nephrocystin-1. The lack of this protein probably impairs the function of cilia in some way, which likely disrupts important chemical signaling pathways during development. Although researchers believe that defective cilia are responsible for the features of nephronophthisis, the mechanism remains unclear.</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/nephronophthisis/">More About This Health Condition</a>
</div>
</section>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Joubert syndrome</h3>
<p>MedlinePlus Genetics provides information about Joubert syndrome</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/joubert-syndrome/">More About This Health Condition</a>
</div>
</section>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Senior-Løken syndrome</h3>
<p>MedlinePlus Genetics provides information about Senior-Løken syndrome</p>
<a class="more-info-link" href="https://medlineplus.gov/genetics/condition/senior-loken-syndrome/">More About This Health Condition</a>
</div>
</section>
<section>
<div class="mp-content mp-exp exp-full">
<h3>Other disorders</h3>
<p>Mutations in the <i>NPHP1</i> gene can cause syndromes that include nephronophthisis among their features; such conditions are known as nephronophthisis-associated ciliopathies. Senior-Løken syndrome is characterized by the combination of nephronophthisis and breakdown of the retina (retinal degeneration). Joubert syndrome is a multisystem disorder that typically involves neurological problems and can include nephronophthisis, eye abnormalities, liver disease, and other abnormalities. As in nephronophthisis type1 (described above), <i>NPHP1</i> gene mutations probably impair cilia function. Defective cilia likely cause the features of these nephronophthisis-associated ciliopathies, although it remains unclear how these defects lead to the specific abnormalities of each condition. It is unknown why some individuals with <i>NPHP1</i> gene mutations develop the additional signs and symptoms of Senior-Løken syndrome or Joubert syndrome.</p>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Gene</h2>
<section>
<ul class="bulletlist">
<li>JBTS4</li> <li>juvenile nephronophthisis 1 protein</li> <li>nephrocystin-1</li> <li>nephronophthisis 1 (juvenile)</li> <li>NPH1</li> <li>SLSN1</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Tests Listed in the Genetic Testing Registry</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=4867[geneid]" target="TheNewWin">Tests of NPHP1</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28NPHP1%5BTIAB%5D%29+OR+%28nephronophthisis+1%5BTIAB%5D%29%29+AND+%28%28Genes%5BMH%5D%29+OR+%28Genetic+Phenomena%5BMH%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/607100" target="TheNewWin">NEPHROCYSTIN 1; NPHP1</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Gene and Variant Databases</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/4867" target="TheNewWin">NCBI Gene</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=NPHP1[gene]" target="TheNewWin">ClinVar</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Fliegauf M, Horvath J, von Schnakenburg C, Olbrich H, Muller D, Thumfart J,
Schermer B, Pazour GJ, Neumann HP, Zentgraf H, Benzing T, Omran H. Nephrocystin
specifically localizes to the transition zone of renal and respiratory cilia and
photoreceptor connecting cilia. J Am Soc Nephrol. 2006 Sep;17(9):2424-33. doi:
10.1681/ASN.2005121351. Epub 2006 Aug 2. <a href="https://pubmed.ncbi.nlm.nih.gov/16885411" target="TheNewWin">Citation on PubMed</a></li>
<li>Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch
H, Brandis M. A novel gene encoding an SH3 domain protein is mutated in
nephronophthisis type 1. Nat Genet. 1997 Oct;17(2):149-53. doi:
10.1038/ng1097-149. <a href="https://pubmed.ncbi.nlm.nih.gov/9326933" target="TheNewWin">Citation on PubMed</a></li>
<li>Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc
Nephrol. 2007 Jun;18(6):1855-71. doi: 10.1681/ASN.2006121344. Epub 2007 May 18.
<a href="https://pubmed.ncbi.nlm.nih.gov/17513324" target="TheNewWin">Citation on PubMed</a></li>
<li>Hurd TW, Hildebrandt F. Mechanisms of nephronophthisis and related
ciliopathies. Nephron Exp Nephrol. 2011;118(1):e9-14. doi: 10.1159/000320888.
Epub 2010 Nov 11. <a href="https://pubmed.ncbi.nlm.nih.gov/21071979" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992643/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC,
Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E,
Lupski JR, Clark R, Katsanis N. Recurrent CNVs and SNVs at the NPHP1 locus
contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May
1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17. <a href="https://pubmed.ncbi.nlm.nih.gov/24746959" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067552/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R,
Eddy A, Chance PF, Glass IA. The NPHP1 gene deletion associated with juvenile
nephronophthisis is present in a subset of individuals with Joubert syndrome. Am
J Hum Genet. 2004 Jul;75(1):82-91. doi: 10.1086/421846. Epub 2004 May 11. <a href="https://pubmed.ncbi.nlm.nih.gov/15138899" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182011/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Ronquillo CC, Bernstein PS, Baehr W. Senior-Loken syndrome: a syndromic form
of retinal dystrophy associated with nephronophthisis. Vision Res. 2012 Dec
15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Epub 2012 Jul 20. <a href="https://pubmed.ncbi.nlm.nih.gov/22819833" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3504181/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J,
Antignac C. Characterization of the NPHP1 locus: mutational mechanism involved in
deletions in familial juvenile nephronophthisis. Am J Hum Genet. 2000
Mar;66(3):778-89. doi: 10.1086/302819. <a href="https://pubmed.ncbi.nlm.nih.gov/10712196" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1288163/" target="TheNewWin">Free article on PubMed Central</a></li>
</ul>
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<section><div class="side-section"><div class="mp-content"><div class="section-header"><h2>Genomic Location</h2></div><div class="section-body"><span>The <em>NPHP1</em> gene is found on <a data-pid="20033" href="https://medlineplus.gov/genetics/chromosome/2/">chromosome 2</a>.</span></div></div>
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<li><a href="https://medlineplus.gov/genetics/understanding/basics/dna/">What is DNA?</a></li>
<li><a href="https://medlineplus.gov/genetics/understanding/basics/gene/">What is a gene?</a></li>
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