NPHP4: Difference between revisions

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

{{Infobox_gene}}

'''Nephrocystin-4''' is a [[protein]] that in humans is encoded by the ''NPHP4'' [[gene]].<ref name="pmid11920287">{{cite journal | author = 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 | author = 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 = http://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 | authorvauthors = 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 | authorvauthors = 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 = httphttps://www.ncbi.nlm.nih.gov/sites/entrezgene?Db=gene&Cmd=ShowDetailView&TermToSearch=261734| accessdate = }}</ref>

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{{PBB_Summary

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

| section_title =

| 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>

}}

==References==

{{reflist}}

==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 }}

{{PBB_Further_reading

*{{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 }}

| citations =

*{{cite journal |vauthors=IshikawaMollet KG, NagaseSalomon TR, SuyamaGribouval MO, etal |title=Prediction of the coding sequences of unidentified human genes. X. The completegene sequencesmutated ofin 100juvenile newnephronophthisis cDNAtype clones4 fromencodes braina whichnovel canprotein codethat forinteracts largewith proteins in vitronephrocystin. |journal=DNANat. ResGenet. |volume=532 |issue= 32 |pages= 169–76300–5 |year= 19982002 |pmid= 973481112244321 |doi= 10.10931038/dnares/5.3.169ng996 |s2cid=24216974 }}

*{{cite journal | authorvauthors=DonaldsonStrausberg JCRL, DiseFeingold RSEA, RitchieGrouse MDLH, Hanks SKetal |title=Nephrocystin-conservedGeneration domainsand involvedinitial inanalysis targetingof tomore epithelialthan cell-cell junctions15,000 interactionfull-length with filamins,human and establishingmouse cellcDNA polaritysequences. |journal=JProc. BiolNatl. ChemAcad. Sci. U.S.A. |volume=27799 |issue= 3226 |pages= 29028–3516899–903 |year= 20022003 |pmid= 1200655912477932 |doi= 10.10741073/jbcpnas.M111697200242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}

*{{cite journal |vauthors=MolletOta GT, SalomonSuzuki RY, GribouvalNishikawa OT, etal |title=TheComplete genesequencing mutatedand incharacterization juvenileof nephronophthisis type 4 encodes a novel protein that21,243 interactsfull-length withhuman nephrocystincDNAs. |journal=Nat. Genet. |volume=3236 |issue= 21 |pages= 300–540–5 |year= 20022004 |pmid= 1224432114702039 |doi= 10.1038/ng996ng1285 |doi-access= free }}

*{{cite journal |vauthors=StrausbergMollet RLG, FeingoldSilbermann EAF, GrouseDelous LHM, etal |title=GenerationCharacterization andof initialthe analysisnephrocystin/nephrocystin-4 ofcomplex moreand thansubcellular 15,000localization of fullnephrocystin-length4 humanto andprimary mousecilia cDNAand sequencescentrosomes. |journal=ProcHum. NatlMol. Acad. Sci. U.S.AGenet. |volume=9914 |issue= 265 |pages= 16899–903645–56 |year= 20032005 |pmid= 1247793215661758 |doi= 10.10731093/pnas.242603899 hmg/ddi061 | pmcdoi-access=139241 free }}

*{{cite journal |vauthors=OtaHoefele TJ, SuzukiSudbrak YR, NishikawaReinhardt TR, etal |title=CompleteMutational sequencinganalysis andof characterizationthe ofNPHP4 21,243gene full-lengthin 250 patients humanwith cDNAsnephronophthisis. |journal=NatHum. GenetMutat. |volume=3625 |issue= 14 |pages= 40–5411 |year= 20042006 |pmid= 1470203915776426 |doi= 10.10381002/ng1285humu.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=MolletRoepman GR, SilbermannLetteboer FSJ, DelousArts MHH, etal |title=CharacterizationInteraction of the nephrocystin/nephrocystin-4 complex and subcellularRPGRIP1 localizationis ofdisrupted nephrocystin-4by tonephronophthisis primaryor ciliaLeber andcongenital centrosomesamaurosis-associated mutations. |journal=HumProc. MolNatl. GenetAcad. Sci. U.S.A. |volume=14102 |issue= 551 |pages= 645–5618520–5 |year= 20052006 |pmid= 1566175816339905 |doi= 10.10931073/hmg/ddi061pnas.0505774102 | pmc=1317916 |doi-access=free }}

*{{cite journal |vauthors=HoefeleSzafranski JK, SudbrakSchindler RS, ReinhardtTaudien RS, etal |title=MutationalViolating analysisthe ofsplicing therules: NPHP4TG genedinucleotides infunction 250as patientsalternative with3' nephronophthisissplice sites in U2-dependent introns. |journal=Hum. Mutat.Genome Biology|volume=258 |issue= 48 |pages= 411R154 |year= 2006 2007|pmid= 1577642617672918 |doi= 10.10021186/humu.9326gb-2007-8-8-r154 | pmc=2374985 |doi-access=free }}

*{{cite journal |vauthors=RoepmanMistry RK, LetteboerIreland SJJH, ArtsNg HHRC, etal |title=InteractionNovel ofmutations nephrocystin-4in andNPHP4 RPGRIP1in isa disruptedconsanguineous byfamily nephronophthisiswith orhistological Leberfindings congenitalof amaurosis-associatedfocal mutationssegmental glomerulosclerosis. |journal=ProcAm. NatlJ. Acad.Kidney Sci. U.S.ADis. |volume=10250 |issue= 515 |pages= 18520–5855–64 |year= 20062007 |pmid= 1633990517954299 |doi= 10.10731053/pnasj.0505774102 | pmc=1317916ajkd.2007.08.009 }}

*{{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 |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}}

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{{Ciliary proteins}}

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