NPHP3

Nephronophthisis 3 (adolescent)
Identifiers
Symbols	NPHP3; DKFZp667K242; DKFZp781K1312; FLJ30691; FLJ36696; KIAA2000; MGC78666; MKS7; NPH3; RHPD
External IDs	OMIM: 608002 MGI: 1921275 HomoloGene: 32697 GeneCards: NPHP3 Gene
Gene Ontology Molecular function • protein binding Cellular component • cilium Biological process • Wnt receptor signaling pathway • photoreceptor cell maintenance • maintenance of organ identity • negative regulation of canonical Wnt receptor signaling pathway • regulation of Wnt receptor signaling pathway, planar cell polarity pathway Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	27031	74025
Ensembl	ENSG00000113971	ENSMUSG00000032558
UniProt	Q7Z494	n/a
RefSeq (mRNA)	NM_153240.4	XM_975214
RefSeq (protein)	NP_694972.3	XP_980308
Location (UCSC)	Chr 3: 132.28 – 132.44 Mb	Chr 9: 103.9 – 103.95 Mb
PubMed search	[1]	[2]

Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.^[1][2][3]

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.^[3]

References

1. ^ 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. 
2. ^ 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. 
3. ^ ^{a b} "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27031. 

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1360127. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.