NPHP4: Difference between revisions

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{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Underlinked|date=June 2016}}

{{Infobox_gene}}

'''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>

'''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/entrezgene?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>

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>

This gene encodes a protein which contains a [[proline]]-rich region. The encoded protein may function in [[Nephron|renal tubular development]] and function.

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>

==References==

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==Further reading==

{{refbegin | 2}}

*{{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 |doi-access=free }}

*{{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 |doi-access= free }}

*{{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 |s2cid=24216974 }}

*{{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=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 |doi-access= free }}

*{{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 |url=https://deepblue.lib.umich.edu/bitstream/2027.42/39127/1/9326_ftp.pdf |hdl=2027.42/39127 |s2cid=20251528 |hdl-access=free }}

*{{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 |doi-access=free }}

*{{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 |doi-access=free }}

*{{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 }}

{{refend}}