NPHP1

From Wikipedia, the free encyclopedia

Nephronophthisis 1 (juvenile)

PDB rendering based on 1s1n.

Available structures: 1s1n

Identifiers

Symbol(s)

NPHP1; JBTS4; NPH1; SLSN1

External IDs

OMIM: 607100 MGI: 1858233 HomoloGene: 229

Gene ontology
Molecular Function:	• structural molecule activity • protein domain specific binding
Cellular Component:	• membrane
Biological Process:	• signal transduction • excretion • visual behavior • cell-cell adhesion • actin cytoskeleton organization and biogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000272 (mRNA)
NP_000263 (protein)

NM_016902 (mRNA)
NP_058598 (protein)

Location

Chr 2: 110.24 - 110.32 Mb

Chr 2: 127.43 - 127.48 Mb

Pubmed search

[1]

[2]

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

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

[edit] References

^ ^a ^b Entrez Gene: NPHP1 nephronophthisis 1 (juvenile).

[edit] Further reading

Konrad M, Saunier S, Calado J, et al. (1998). "Familial juvenile nephronophthisis.". J. Mol. Med. 76 (5): 310-6. 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. 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. 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. 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.
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. 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. 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. PMID 10712196.
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. 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. PMID 11493697.
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. PMID 12205563.
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. PMID 12477932.
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.