NPHP1 explained

Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene.^[1]

Function

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

Interactions

NPHP1 has been shown to interact with BCAR1,^{[2] [3]} PTK2B,^[3] Filamin^[4] and INVS.^[5]

Further reading

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

Notes and References

1. Web site: Entrez Gene: NPHP1 nephronophthisis 1 (juvenile).
2. Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK . 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 . Apr 2000 . 10739664 . 10.1006/excr.2000.4822 .
3. Benzing T, Gerke P, Höpker K, Hildebrandt F, Kim E, Walz G . 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 . Aug 2001 . 11493697 . 55530 . 10.1073/pnas.171269898 . 2001PNAS...98.9784B . free .
4. Donaldson JC, Dise RS, Ritchie MD, Hanks SK . 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 . Aug 2002 . 12006559 . 10.1074/jbc.M111697200 . free .
5. 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 . 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 . Aug 2003 . 12872123 . 10.1038/ng1217 . 3732175.