NPHP3: Difference between revisions

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Latest revision as of 13:12, 5 September 2017

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]

An association with renal-hepatic-pancreatic dysplasia as been described.^[4]

References

↑ 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.
↑ 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.
↑ ^3.0 ^3.1 "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.

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.

This protein-related article is a stub. You can help Wikipedia by expanding it.

[pmid12872122-1] 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.

[pmid15381417-2] 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.

[entrez-3] 3.0 ^3.1 "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)".

[pmid18371931-4] 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.

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@@ Line 1: / Line 1: @@
-{{PBB|geneid=27031}}
+{{Infobox_gene}}
-{{SI}}
+'''Nephrocystin-3''' is a [[protein]] that in humans is encoded by the ''NPHP3'' [[gene]].<ref name="pmid12872122">{{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 | pmc =  | doi = 10.1038/ng1216 }}</ref><ref name="pmid15381417">{{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 | pmc =  | doi = 10.1016/j.jmb.2004.08.023 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27031| accessdate = }}</ref>
-'''Nephronophthisis 3 (adolescent)''', also known as '''NPHP3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27031| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | section_title =
-| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27031| accessdate = }}</ref>
+| summary_text = 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 variant]]s have been described but their full-length nature has not been determined.<ref name="entrez" />
 }}
+An association with [[renal-hepatic-pancreatic dysplasia]] as been described.<ref name="pmid18371931">{{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 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(08)00209-7 |pmc=2427297}}</ref>
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=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 |year= 2004 |pmid= 15381417 |doi= 10.1016/j.jmb.2004.08.023 }}
+*{{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  | author=Omran H, Fernandez C, Jung M, ''et al.'' |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=  }}
+*{{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 |pmid= 11134256 |doi=  }}
-*{{cite journal  | author=Omran H, Häffner K, Burth S, ''et al.'' |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 |pmid= 11134256 |doi=  }}
+*{{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 |pmid= 11752023 |doi=  }}
-*{{cite journal  | author=Omran H, Sasmaz G, Häffner K, ''et al.'' |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 |pmid= 11752023 |doi=  }}
+*{{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  }}
-*{{cite journal  | author=Ohara O, Nagase T, Mitsui G, ''et al.'' |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=  }}
+*{{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 }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
+*{{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 }}
-*{{cite journal  | author=Olbrich H, Fliegauf M, Hoefele J, ''et al.'' |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 |year= 2003 |pmid= 12872122 |doi= 10.1038/ng1216 }}
+*{{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 }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
 }}
 {{refend}}
-{{WH}}
-{{WS}}
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+{{Ciliary proteins}}
+{{protein-stub}}

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

NPHP3: Difference between revisions

Latest revision as of 13:12, 5 September 2017

References

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