NPHP1

This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.

NPHP1 has been shown to interact with BCAR1,{{cite journal | vauthors = Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK | title = Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells | journal = Experimental Cell Research | volume = 256 | issue = 1 | pages = 168–78 | date = Apr 2000 | pmid = 10739664 | doi = 10.1006/excr.2000.4822 }}{{cite journal | vauthors = Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G | title = Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 98 | issue = 17 | pages = 9784–9 | date = Aug 2001 | pmid = 11493697 | pmc = 55530 | doi = 10.1073/pnas.171269898 | bibcode = 2001PNAS...98.9784B | doi-access = free }} PTK2B, Filamin{{cite journal | vauthors = Donaldson JC, Dise RS, Ritchie MD, Hanks SK | title = Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity | journal = The Journal of Biological Chemistry | volume = 277 | issue = 32 | pages = 29028–35 | date = Aug 2002 | pmid = 12006559 | doi = 10.1074/jbc.M111697200 | doi-access = free }} and INVS.{{cite journal | vauthors = 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 | title = Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination | journal = Nature Genetics | volume = 34 | issue = 4 | pages = 413–20 | date = Aug 2003 | pmid = 12872123 | doi = 10.1038/ng1217 | pmc=3732175}}

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• {{cite journal | vauthors = Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C | title = Familial juvenile nephronophthisis | journal = Journal of Molecular Medicine | volume = 76 | issue = 5 | pages = 310–6 | date = Apr 1998 | pmid = 9587065 | doi = 10.1007/s001090050222 | s2cid = 21330229 }}
• {{cite journal | vauthors = Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM | title = Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus | journal = American Journal of Kidney Diseases | volume = 32 | issue = 6 | pages = 1059–62 | date = Dec 1998 | pmid = 9856524 | doi = 10.1016/S0272-6386(98)70083-6 }}
• {{cite journal | vauthors = Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C | title = Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity | journal = Genomics | volume = 22 | issue = 2 | pages = 296–301 | date = Jul 1994 | pmid = 7806215 | doi = 10.1006/geno.1994.1387 }}
• {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | date = Jan 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
• {{cite journal | vauthors = Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C | title = Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis | journal = Human Molecular Genetics | volume = 5 | issue = 3 | pages = 367–71 | date = Mar 1996 | pmid = 8852662 | doi = 10.1093/hmg/5.3.367 | doi-access = free }}
• {{cite journal | vauthors = Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M | title = A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 | journal = Nature Genetics | volume = 17 | issue = 2 | pages = 149–53 | date = Oct 1997 | pmid = 9326933 | doi = 10.1038/ng1097-149 | s2cid = 38035697 }}
• {{cite journal | vauthors = Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C | title = A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis | journal = Human Molecular Genetics | volume = 6 | issue = 13 | pages = 2317–23 | date = Dec 1997 | pmid = 9361039 | doi = 10.1093/hmg/6.13.2317 | doi-access = free }}
• {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | date = Oct 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
• {{cite journal | vauthors = Otto E, Kispert A, Lescher B, Rensing C, Hildebrandt F | title = Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans | journal = Journal of the American Society of Nephrology | volume = 11 | issue = 2 | pages = 270–82 | date = Feb 2000 | doi = 10.1681/ASN.V112270 | pmid = 10665934 | doi-access = free }}
• {{cite journal | vauthors = Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C | title = Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis | journal = American Journal of Human Genetics | volume = 66 | issue = 3 | pages = 778–89 | date = Mar 2000 | pmid = 10712196 | pmc = 1288163 | doi = 10.1086/302819 }}
• {{cite journal | vauthors = Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK | title = Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells | journal = Experimental Cell Research | volume = 256 | issue = 1 | pages = 168–78 | date = Apr 2000 | pmid = 10739664 | doi = 10.1006/excr.2000.4822 }}
• {{cite journal | vauthors = Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F | title = Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis | journal = The Journal of Pediatrics | volume = 136 | issue = 6 | pages = 828–31 | date = Jun 2000 | pmid = 10839884 | doi = 10.1067/mpd.2000.106225 | doi-broken-date = 1 November 2024 }}
• {{cite journal | vauthors = Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G | title = Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 98 | issue = 17 | pages = 9784–9 | date = Aug 2001 | pmid = 11493697 | pmc = 55530 | doi = 10.1073/pnas.171269898 | bibcode = 2001PNAS...98.9784B | doi-access = free }}
• {{cite journal | vauthors = Donaldson JC, Dise RS, Ritchie MD, Hanks SK | title = Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity | journal = The Journal of Biological Chemistry | volume = 277 | issue = 32 | pages = 29028–35 | date = Aug 2002 | pmid = 12006559 | doi = 10.1074/jbc.M111697200 | doi-access = free }}
• {{cite journal | vauthors = 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 | title = A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution | journal = American Journal of Human Genetics | volume = 71 | issue = 5 | pages = 1161–7 | date = Nov 2002 | pmid = 12205563 | pmc = 385091 | doi = 10.1086/344395 }}
• {{cite journal | vauthors = Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S | title = The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin | journal = Nature Genetics | volume = 32 | issue = 2 | pages = 300–5 | date = Oct 2002 | pmid = 12244321 | doi = 10.1038/ng996 | s2cid = 24216974 }}
• {{cite journal | vauthors = 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 | title = Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis | journal = Nature Genetics | volume = 34 | issue = 4 | pages = 455–9 | date = Aug 2003 | pmid = 12872122 | doi = 10.1038/ng1216 | s2cid = 22062277 }}

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{{PDB Gallery|geneid=4867}}

{{Ciliary proteins}}

{{gene-2-stub}}