NPHP1

Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene.[5]

NPHP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1S1N
Identifiers
Aliases	NPHP1, JBTS4, NPH1, SLSN1, nephrocystin 1
External IDs	OMIM: 607100 MGI: 1858233 HomoloGene: 229 GeneCards: NPHP1
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q13 Start 110,122,311 bp[1] End 110,205,066 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 F1 Start 127,740,732 bp[2] End 127,788,897 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • structural molecule activity • GO:0001948 protein binding Cellular component • cytoplasm • cytosol • cell projection • membrane • intercellular junction • bicellular tight junction • adherens junction • cilium • photoreceptor connecting cilium • cell junction • motile cilium • cytoskeleton • ciliary transition zone Biological process • cell differentiation • excretion • spermatid differentiation • cell projection organization • retina development in camera-type eye • spermatogenesis • actin cytoskeleton organization • signal transduction • visual behavior • positive regulation of bicellular tight junction assembly • ciliary basal body docking • cell-cell adhesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4867	53885
Ensembl	ENSG00000144061	ENSMUSG00000027378
UniProt	O15259	Q9QY53
RefSeq (mRNA)	NM_000272 NM_001128178 NM_001128179 NM_207181 NM_001374256 NM_001374257	NM_001291012 NM_001291013 NM_016902 NM_001355429 NM_001369236
RefSeq (protein)	NP_000263 NP_001121650 NP_001121651 NP_997064 NP_001361185 NP_001361186	NP_001277941 NP_001277942 NP_058598 NP_001342358 NP_001356165
Location (UCSC)	Chr 2: 110.12 – 110.21 Mb	Chr 2: 127.74 – 127.79 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.[5]

Interactions

NPHP1 has been shown to interact with BCAR1,[6][7] PTK2B,[7] Filamin[8] and INVS.[9]

References

1. GRCh38: Ensembl release 89: ENSG00000144061 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027378 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: NPHP1 nephronophthisis 1 (juvenile)".
6. Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "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. doi:10.1006/excr.2000.4822. PMID 10739664.
7. 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". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697.
8. Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "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. doi:10.1074/jbc.M111697200. PMID 12006559.
9. 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 (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". Nature Genetics. 34 (4): 413–20. doi:10.1038/ng1217. PMC 3732175. PMID 12872123.

Further reading

• Konrad M, Saunier S, Calado J, Gubler MC, Broyer M, Antignac C (Apr 1998). "Familial juvenile nephronophthisis". Journal of Molecular Medicine. 76 (5): 310–6. doi:10.1007/s001090050222. PMID 9587065.
• Caridi G, Murer L, Bellantuono R, Sorino P, Caringella DA, Gusmano R, Ghiggeri GM (Dec 1998). "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. doi:10.1016/S0272-6386(98)70083-6. PMID 9856524.
• Medhioub M, Cherif D, Benessy F, Silbermann F, Gubler MC, Le Paslier D, Cohen D, Weissenbach J, Beckmann J, Antignac C (Jul 1994). "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 (Jan 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, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C (Mar 1996). "Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis". Human Molecular Genetics. 5 (3): 367–71. doi:10.1093/hmg/5.3.367. PMID 8852662.
• Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M (Oct 1997). "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1". Nature Genetics. 17 (2): 149–53. doi:10.1038/ng1097-149. PMID 9326933.
• Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J, Antignac C (Dec 1997). "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. doi:10.1093/hmg/6.13.2317. PMID 9361039.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 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, Lescher B, Rensing C, Hildebrandt F (Feb 2000). "Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans". Journal of the American Society of Nephrology. 11 (2): 270–82. PMID 10665934.
• Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C (Mar 2000). "Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis". American Journal of Human Genetics. 66 (3): 778–89. doi:10.1086/302819. PMC 1288163. PMID 10712196.
• Donaldson JC, Dempsey PJ, Reddy S, Bouton AH, Coffey RJ, Hanks SK (Apr 2000). "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. doi:10.1006/excr.2000.4822. PMID 10739664.
• Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F (Jun 2000). "Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis". The Journal of Pediatrics. 136 (6): 828–31. doi:10.1067/mpd.2000.106225. PMID 10839884.
• 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". Proceedings of the National Academy of Sciences of the United States of America. 98 (17): 9784–9. doi:10.1073/pnas.171269898. PMC 55530. PMID 11493697.
• Donaldson JC, Dise RS, Ritchie MD, Hanks SK (Aug 2002). "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. doi:10.1074/jbc.M111697200. PMID 12006559.
• 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 (Nov 2002). "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. doi:10.1086/344395. PMC 385091. PMID 12205563.
• Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S (Oct 2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". Nature Genetics. 32 (2): 300–5. doi:10.1038/ng996. PMID 12244321.
• 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 (Aug 2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis". Nature Genetics. 34 (4): 455–9. doi:10.1038/ng1216. PMID 12872122.