NPHP1 (original) (raw)

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NPHP1
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes1S1N
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)[1]Band2q13Start110,122,311 bp[1]End110,205,066 bp[1]
Gene location (Mouse)Chr.Chromosome 2 (mouse)[2]Band2|2 F1Start127,582,652 bp[2]End127,630,817 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright uterine tubebronchial epithelial cellolfactory zone of nasal mucosamuscle of thighleft testisright testisanterior pituitarybuccal mucosa cellgonadgastrocnemius muscleTop expressed inspermatocytespermatidseminiferous tubuleesophagusEpithelium of choroid plexuscoelomic epitheliumextensor digitorum longus muscleutricleright kidneyproximal tubuleMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez486753885EnsemblENSG00000144061ENSMUSG00000027378UniProtO15259Q9QY53RefSeq (mRNA)NM_000272NM_001128178NM_001128179NM_207181NM_001374256NM_001374257NM_001291012NM_001291013NM_016902NM_001355429NM_001369236RefSeq (protein)NP_000263NP_001121650NP_001121651NP_997064NP_001361185NP_001361186NP_001277941NP_001277942NP_058598NP_001342358NP_001356165Location (UCSC)Chr 2: 110.12 – 110.21 MbChr 2: 127.58 – 127.63 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

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

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144061 – Ensembl, May 2017
2. ^ a b c 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. ^ a b "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. ^ 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". 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.
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.

• 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](/wiki/Template:Cite%5Fjournal "Template: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.