NPHP1

Nephronophthisis 1 (juvenile)
File:PBB Protein NPHP1 image.jpg PDB rendering based on 1s1n.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1s1n​
Identifiers
Symbols	NPHP1 ; JBTS4; NPH1; SLSN1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 229
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE NPHP1 206285 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Nephronophthisis 1 (juvenile), also known as NPHP1, is a human gene.

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

Further reading

• Konrad M, Saunier S, Calado J; et al. (1998). "Familial juvenile nephronophthisis". J. Mol. Med. 76 (5): 310–6. PMID 9587065.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9856524.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7806215.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. 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. PMID 8852662.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9361039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 9373149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10712196.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10839884.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11493697.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12205563.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)