NPHP3
Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.[5][6][7]
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined.[7]
An association with renal-hepatic-pancreatic dysplasia has been described.[8]
References
- GRCh38: Ensembl release 89: ENSG00000113971 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000032558 - 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.
- 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". Nat Genet. 34 (4): 455–9. doi:10.1038/ng1216. PMID 12872122. S2CID 22062277.
- Leipe DD, Koonin EV, Aravind L (Sep 2004). "STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer". J Mol Biol. 343 (1): 1–28. doi:10.1016/j.jmb.2004.08.023. PMID 15381417.
- "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)".
- Bergmann C, Fliegauf M, Brüchle NO, et al. (April 2008). "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia". Am. J. Hum. Genet. 82 (4): 959–970. doi:10.1016/j.ajhg.2008.02.017. PMC 2427297. PMID 18371931.
Further reading
- Omran H, Fernandez C, Jung M, et al. (2000). "Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree". Am. J. Hum. Genet. 66 (1): 118–27. doi:10.1086/302705. PMC 1360127. PMID 10631142.
- Omran H, Häffner K, Burth S, et al. (2001). "Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice". J. Am. Soc. Nephrol. 12 (1): 107–13. PMID 11134256.
- Omran H, Sasmaz G, Häffner K, et al. (2002). "Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene". J. Am. Soc. Nephrol. 13 (1): 75–9. PMID 11752023.
- Ohara O, Nagase T, Mitsui G, et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method". DNA Res. 9 (2): 47–57. doi:10.1093/dnares/9.2.47. PMID 12056414.
- 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. 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.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
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