Protein-coding gene in the species Homo sapiens
Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene .[ 5] [ 6] [ 7]
This gene encodes a protein which contains a proline -rich region. The encoded protein may function in renal tubular development and function.
This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.[ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000131697 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039577 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F (Apr 2002). "Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36" . Am J Hum Genet . 70 (5): 1240–6. doi :10.1086/340317 . PMC 447598 PMID 11920287 . ^ Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F (Oct 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution" . Am J Hum Genet . 71 (5): 1161–7. doi :10.1086/344395 . PMC 385091 PMID 12205563 . ^ a b "Entrez Gene: NPHP4 nephronophthisis 4" .
Further reading
Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro" . DNA Res . 5 (3): 169–76. doi :10.1093/dnares/5.3.169 PMID 9734811 . 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 . 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 . S2CID 24216974 . 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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Mollet G, Silbermann F, Delous M, et al. (2005). "Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes" . Hum. Mol. Genet . 14 (5): 645–56. doi :10.1093/hmg/ddi061 PMID 15661758 . Hoefele J, Sudbrak R, Reinhardt R, et al. (2006). "Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis" (PDF) . Hum. Mutat . 25 (4): 411. doi :10.1002/humu.9326 . hdl :2027.42/39127 PMID 15776426 . S2CID 20251528 . Roepman R, Letteboer SJ, Arts HH, et al. (2006). "Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations" . Proc. Natl. Acad. Sci. U.S.A . 102 (51): 18520–5. doi :10.1073/pnas.0505774102 PMC 1317916 PMID 16339905 . Szafranski K, Schindler S, Taudien S, et al. (2007). "Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns" . Genome Biology . 8 (8): R154. doi :10.1186/gb-2007-8-8-r154 PMC 2374985 PMID 17672918 . Mistry K, Ireland JH, Ng RC, et al. (2007). "Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis". Am. J. Kidney Dis . 50 (5): 855–64. doi :10.1053/j.ajkd.2007.08.009 . PMID 17954299 .
