NPHP3: Difference between revisions

Jump to navigation Jump to search
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
m (Bot: HTTP→HTTPS)
 
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. -->
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
{{PBB_Summary
| section_title =  
| 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==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| 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}}
{{refend}}


{{WH}}
{{WS}}
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
{{PBB_Controls
Line 41: Line 35:
| update_citations = yes
| update_citations = yes
}}
}}
{{Ciliary proteins}}
{{protein-stub}}

Latest revision as of 13:12, 5 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  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. 3.0 3.1 "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)".
  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.

Further reading