NPHP3
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.{{cite journal | vauthors = 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 | title = Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis | journal = Nat Genet | volume = 34 | issue = 4 | pages = 455–9 |date=Aug 2003 | pmid = 12872122 | doi = 10.1038/ng1216 | s2cid = 22062277 }}{{cite journal | vauthors = Leipe DD, Koonin EV, Aravind L | title = 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 | journal = J Mol Biol | volume = 343 | issue = 1 | pages = 1–28 |date=Sep 2004 | pmid = 15381417 | doi = 10.1016/j.jmb.2004.08.023 | url = https://zenodo.org/record/1259127}}{{cite web | title = Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27031}}
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.
An association with renal-hepatic-pancreatic dysplasia has been described.{{cite journal |vauthors=Bergmann C, Fliegauf M, Brüchle NO, etal |title=Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia |journal=Am. J. Hum. Genet. |volume=82 |issue=4 |pages=959–970 |date=April 2008 |pmid=18371931 |doi=10.1016/j.ajhg.2008.02.017 |pmc=2427297}}
References
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Further reading
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- {{cite journal |vauthors=Omran H, Fernandez C, Jung M, etal |title=Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree. |journal=Am. J. Hum. Genet. |volume=66 |issue= 1 |pages= 118–27 |year= 2000 |pmid= 10631142 |doi=10.1086/302705 | pmc=1360127 }}
- {{cite journal |vauthors=Omran H, Häffner K, Burth S, etal |title=Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. |journal=J. Am. Soc. Nephrol. |volume=12 |issue= 1 |pages= 107–13 |year= 2001 |doi=10.1681/ASN.V121107 |pmid= 11134256 |doi-access=free }}
- {{cite journal |vauthors=Omran H, Sasmaz G, Häffner K, etal |title=Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. |journal=J. Am. Soc. Nephrol. |volume=13 |issue= 1 |pages= 75–9 |year= 2002 |doi=10.1681/ASN.V13175 |pmid= 11752023 |doi-access=free }}
- {{cite journal |vauthors=Ohara O, Nagase T, Mitsui G, etal |title=Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. |journal=DNA Res. |volume=9 |issue= 2 |pages= 47–57 |year= 2003 |pmid= 12056414 |doi=10.1093/dnares/9.2.47 |doi-access=free }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
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