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'''Nephrocystin-4''' is a [[protein]] that in humans is encoded by the ''NPHP4'' [[gene]].<ref name="pmid11920287">{{cite journal | vauthors = Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F | title = Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36 | journal = Am J Hum Genet | volume = 70 | issue = 5 | pages = 1240–6 |date=Apr 2002 | pmid = 11920287 | pmc = 447598 | doi = 10.1086/340317 }}</ref><ref name="pmid12205563">{{cite journal | vauthors = Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F | title = A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution | journal = Am J Hum Genet | volume = 71 | issue = 5 | pages = 1161–7 |date=Oct 2002 | pmid = 12205563 | pmc = 385091 | doi = 10.1086/344395 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: NPHP4 nephronophthisis 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>


'''Nephronophthisis 4''', also known as '''NPHP4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: NPHP4 nephronophthisis 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>
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| summary_text = This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.<ref name="entrez">{{cite web | title = Entrez Gene: NPHP4 nephronophthisis 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>
| summary_text = This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.<ref name="entrez">{{cite web | title = Entrez Gene: NPHP4 nephronophthisis 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>
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==References==
==References==
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==Further reading==
==Further reading==
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| citations =  
*{{cite journal | author=Ishikawa K, Nagase T, Suyama M, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–76 |year= 1998 |pmid= 9734811 |doi= }}
*{{cite journal   |vauthors=Ishikawa K, Nagase T, Suyama M, etal |title=Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 3 |pages= 169–76 |year= 1998 |pmid= 9734811 |doi=10.1093/dnares/5.3.169 }}
*{{cite journal  | author=Schuermann MJ, Otto E, Becker A, ''et al.'' |title=Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. |journal=Am. J. Hum. Genet. |volume=70 |issue= 5 |pages= 1240–6 |year= 2002 |pmid= 11920287 |doi= }}
*{{cite journal  | vauthors=Donaldson JC, Dise RS, Ritchie MD, Hanks SK |title=Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 29028–35 |year= 2002 |pmid= 12006559 |doi= 10.1074/jbc.M111697200 }}
*{{cite journal  | author=Donaldson JC, Dise RS, Ritchie MD, Hanks SK |title=Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 29028–35 |year= 2002 |pmid= 12006559 |doi= 10.1074/jbc.M111697200 }}
*{{cite journal   |vauthors=Mollet G, Salomon R, Gribouval O, etal |title=The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. |journal=Nat. Genet. |volume=32 |issue= 2 |pages= 300–5 |year= 2002 |pmid= 12244321 |doi= 10.1038/ng996 }}
*{{cite journal | author=Otto E, Hoefele J, Ruf R, ''et al.'' |title=A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. |journal=Am. J. Hum. Genet. |volume=71 |issue= 5 |pages= 1161–7 |year= 2003 |pmid= 12205563 |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=Mollet G, Salomon R, Gribouval O, ''et al.'' |title=The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. |journal=Nat. Genet. |volume=32 |issue= 2 |pages= 300–5 |year= 2002 |pmid= 12244321 |doi= 10.1038/ng996 }}
*{{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=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=Mollet G, Silbermann F, Delous M, etal |title=Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. |journal=Hum. Mol. Genet. |volume=14 |issue= 5 |pages= 645–56 |year= 2005 |pmid= 15661758 |doi= 10.1093/hmg/ddi061 }}
*{{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   |vauthors=Hoefele J, Sudbrak R, Reinhardt R, etal |title=Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. |journal=Hum. Mutat. |volume=25 |issue= 4 |pages= 411 |year= 2006 |pmid= 15776426 |doi= 10.1002/humu.9326 }}
*{{cite journal | author=Mollet G, Silbermann F, Delous M, ''et al.'' |title=Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. |journal=Hum. Mol. Genet. |volume=14 |issue= 5 |pages= 645–56 |year= 2005 |pmid= 15661758 |doi= 10.1093/hmg/ddi061 }}
*{{cite journal   |vauthors=Roepman R, Letteboer SJ, Arts HH, etal |title=Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 51 |pages= 18520–5 |year= 2006 |pmid= 16339905 |doi= 10.1073/pnas.0505774102 | pmc=1317916 }}
*{{cite journal | author=Hoefele J, Sudbrak R, Reinhardt R, ''et al.'' |title=Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. |journal=Hum. Mutat. |volume=25 |issue= 4 |pages= 411 |year= 2006 |pmid= 15776426 |doi= 10.1002/humu.9326 }}
*{{cite journal   |vauthors=Szafranski K, Schindler S, Taudien S, etal |title=Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. |journal= Genome Biology|volume=8 |issue= 8 |pages= R154 |year=  2007|pmid= 17672918 |doi= 10.1186/gb-2007-8-8-r154 | pmc=2374985 }}
*{{cite journal | author=Roepman R, Letteboer SJ, Arts HH, ''et al.'' |title=Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 51 |pages= 18520–5 |year= 2006 |pmid= 16339905 |doi= 10.1073/pnas.0505774102 }}
*{{cite journal   |vauthors=Mistry K, Ireland JH, Ng RC, etal |title=Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. |journal=Am. J. Kidney Dis. |volume=50 |issue= 5 |pages= 855–64 |year= 2007 |pmid= 17954299 |doi= 10.1053/j.ajkd.2007.08.009 }}
*{{cite journal | author=Szafranski K, Schindler S, Taudien S, ''et al.'' |title=Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. |journal= |volume=8 |issue= 8 |pages= R154 |year=  |pmid= 17672918 |doi= 10.1186/gb-2007-8-8-r154 }}
*{{cite journal | author=Mistry K, Ireland JH, Ng RC, ''et al.'' |title=Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. |journal=Am. J. Kidney Dis. |volume=50 |issue= 5 |pages= 855–64 |year= 2007 |pmid= 17954299 |doi= 10.1053/j.ajkd.2007.08.009 }}
}}
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{{Ciliary proteins}}




 
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Revision as of 13:12, 5 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Wikidata
View/Edit Human

Nephrocystin-4 is a protein that in humans is encoded by the NPHP4 gene.[1][2][3]

This gene encodes a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined.[3]

References

  1. ↑ Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F (Apr 2002). "Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36". Am J Hum Genet. 70 (5): 1240–6. doi:10.1086/340317. PMC 447598. PMID 11920287.
  2. ↑ Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F (Oct 2002). "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution". Am J Hum Genet. 71 (5): 1161–7. doi:10.1086/344395. PMC 385091. PMID 12205563.
  3. ↑ 3.0 3.1 "Entrez Gene: NPHP4 nephronophthisis 4".

Further reading



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