NPHP1

Nephronophthisis 1 (juvenile)
PDB rendering based on 1s1n.
Available structures PDB 1s1n
Identifiers
Symbols	NPHP1; FLJ97602; JBTS4; NPH1; SLSN1
External IDs	OMIM: 607100 MGI: 1858233 HomoloGene: 229 GeneCards: NPHP1 Gene
Gene Ontology Molecular function • structural molecule activity • protein binding Cellular component • cytoplasm • cytoskeleton • adherens junction • membrane • cell junction • motile cilium • photoreceptor connecting cilium • cilium axoneme Biological process • signal transduction • excretion • visual behavior • cell-cell adhesion • cell projection organization • actin cytoskeleton organization • spermatid differentiation • retina development in camera-type eye Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4867	53885
Ensembl	ENSG00000144061	ENSMUSG00000027378
UniProt	O15259	Q0VF70
RefSeq (mRNA)	NM_000272.3	NM_016902.3
RefSeq (protein)	NP_000263.2	NP_058598.1
Location (UCSC)	Chr 2: 110.88 – 110.96 Mb	Chr 2: 127.57 – 127.61 Mb
PubMed search	[1]	[2]

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

This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.^[1]

Interactions

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

References

1. ^ ^{a b} "Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4867. 
2. ^ Donaldson, J C; Dempsey P J, Reddy S, Bouton A H, Coffey R J, Hanks S K (Apr. 2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Exp. Cell Res. (UNITED STATES) 256 (1): 168–78. doi:10.1006/excr.2000.4822. ISSN 0014-4827. PMID 10739664. 
3. ^ ^{a b} 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". Proc. Natl. Acad. Sci. U.S.A. (United States) 98 (17): 9784–9. doi:10.1073/pnas.171269898. ISSN 0027-8424. PMC 55530. PMID 11493697. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=55530. 
4. ^ Donaldson, John C; Dise Rebecca S, Ritchie Marylyn D, Hanks Steven K (Aug. 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". J. Biol. Chem. (United States) 277 (32): 29028–35. doi:10.1074/jbc.M111697200. ISSN 0021-9258. PMID 12006559. 
5. ^ Otto, Edgar A; Schermer Bernhard, Obara Tomoko, O'Toole John F, Hiller Karl S, Mueller Adelheid M, Ruf Rainer G, Hoefele Julia, Beekmann Frank, Landau Daniel, Foreman John W, Goodship Judith A, Strachan Tom, Kispert Andreas, Wolf Matthias T, Gagnadoux Marie F, Nivet Hubert, Antignac Corinne, Walz Gerd, Drummond Iain A, Benzing Thomas, Hildebrandt Friedhelm (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". Nat. Genet. (United States) 34 (4): 413–20. doi:10.1038/ng1217. ISSN 1061-4036. PMID 12872123. 

Further reading

• Konrad M, Saunier S, Calado J, et al. (1998). "Familial juvenile nephronophthisis". J. Mol. Med. 76 (5): 310–6. doi:10.1007/s001090050222. PMID 9587065. 
• Caridi G, Murer L, Bellantuono R, et al. (1999). "Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus". Am. J. Kidney Dis. 32 (6): 1059–62. doi:10.1016/S0272-6386(98)70083-6. PMID 9856524. 
• Medhioub M, Cherif D, Benessy F, et al. (1995). "Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity". Genomics 22 (2): 296–301. doi:10.1006/geno.1994.1387. PMID 7806215. 
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• Konrad M, Saunier S, Heidet L, et al. (1997). "Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis". Hum. Mol. Genet. 5 (3): 367–71. doi:10.1093/hmg/5.3.367. PMID 8852662. 
• Hildebrandt F, Otto E, Rensing C, et al. (1997). "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1". Nat. Genet. 17 (2): 149–53. doi:10.1038/ng1097-149. PMID 9326933. 
• Saunier S, Calado J, Heilig R, et al. (1998). "A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis". Hum. Mol. Genet. 6 (13): 2317–23. doi:10.1093/hmg/6.13.2317. PMID 9361039. 
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• Otto E, Kispert A, Schätzle, et al. (2000). "Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans". J. Am. Soc. Nephrol. 11 (2): 270–82. PMID 10665934. 
• Saunier S, Calado J, Benessy F, et al. (2000). "Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis". Am. J. Hum. Genet. 66 (3): 778–89. doi:10.1086/302819. PMC 1288163. PMID 10712196. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1288163. 
• Donaldson JC, Dempsey PJ, Reddy S, et al. (2000). "Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells". Exp. Cell Res. 256 (1): 168–78. doi:10.1006/excr.2000.4822. PMID 10739664. 
• Betz R, Rensing C, Otto E, et al. (2000). "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis". J. Pediatr. 136 (6): 828–31. doi:10.1067/mpd.2000.106225. PMID 10839884. 
• Benzing T, Gerke P, Höpker K, et al. (2001). "Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2". Proc. Natl. Acad. Sci. U.S.A. 98 (17): 9784–9. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=55530. 
• Donaldson JC, Dise RS, Ritchie MD, Hanks SK (2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". J. Biol. Chem. 277 (32): 29028–35. doi:10.1074/jbc.M111697200. PMID 12006559. 
• Otto E, Hoefele J, Ruf R, et al. (2003). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution". Am. J. Hum. Genet. 71 (5): 1161–7. doi:10.1086/344395. PMC 385091. PMID 12205563. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=385091. 
• Mollet G, Salomon R, Gribouval O, et al. (2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". Nat. Genet. 32 (2): 300–5. doi:10.1038/ng996. PMID 12244321. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Olbrich H, Fliegauf M, Hoefele J, et al. (2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis". Nat. Genet. 34 (4): 455–9. doi:10.1038/ng1216. PMID 12872122.