NPHP1

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

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; OMA:NPHP1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q13 Start 110,122,311 bp End 110,205,066 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F1 Start 127,582,652 bp End 127,630,817 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube bronchial epithelial cell olfactory zone of nasal mucosa muscle of thigh left testis right testis anterior pituitary buccal mucosa cell gonad gastrocnemius muscle Top expressed in spermatocyte spermatid seminiferous tubule esophagus Epithelium of choroid plexus coelomic epithelium extensor digitorum longus muscle utricle right kidney proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural molecule activity protein binding Cellular component cytoplasm cytosol cell projection membrane cell-cell 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-plasma membrane 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: 127.58 – 127.63 Mb PubMed search
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.

Interactions

NPHP1 has been shown to interact with BCAR1, PTK2B, Filamin and INVS.

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. S2CID 21330229.
• 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. S2CID 38035697.
• 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. doi:10.1681/ASN.V112270. 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 (inactive 1 November 2024). PMID 10839884.{{cite journal}}: CS1 maint: DOI inactive as of November 2024 (link)
• 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. Bibcode:2001PNAS...98.9784B. 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. S2CID 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 (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. S2CID 22062277.