NPHP4: Difference between revisions

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

{{PBB|geneid=261734}}

{{Infobox_gene}}

'''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>

'''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/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=261734}}</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 | authorvauthors=IshikawaMollet KG, NagaseSalomon TR, SuyamaGribouval MO, ''et al.''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= 10.1038/ng996 |s2cid=24216974 }}

*{{cite journal | authorvauthors=SchuermannStrausberg MJRL, OttoFeingold EEA, BeckerGrouse ALH, ''et al.''etal |title=MappingGeneration ofand geneinitial locianalysis forof nephronophthisismore typethan 415,000 and Seniorfull-Løkenlength syndrome,human and tomouse chromosomecDNA 1p36sequences. |journal=AmProc. JNatl. HumAcad. GenetSci. U.S.A. |volume=7099 |issue= 526 |pages= 1240–616899–903 |year= 20022003 |pmid= 1192028712477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}

*{{cite journal | authorvauthors=DonaldsonOta JCT, DiseSuzuki RSY, RitchieNishikawa MDT, Hanks SKetal |title=Nephrocystin-conservedComplete domainssequencing involvedand incharacterization targetingof to21,243 epithelial cellfull-cell junctions, interaction with filamins, and establishinglength cellhuman polaritycDNAs. |journal=JNat. Biol. ChemGenet. |volume=27736 |issue= 321 |pages= 29028–3540–5 |year= 20022004 |pmid= 1200655914702039 |doi= 10.10741038/jbc.M111697200ng1285 |doi-access= free }}

*{{cite journal | authorvauthors=OttoMollet EG, HoefeleSilbermann JF, RufDelous RM, ''et al.''etal |title=ACharacterization geneof mutatedthe innephrocystin/nephrocystin-4 nephronophthisiscomplex and retinitissubcellular pigmentosalocalization encodesof anephrocystin-4 novelto protein,primary nephroretinin,cilia conservedand in evolutioncentrosomes. |journal=AmHum. J. HumMol. Genet. |volume=7114 |issue= 5 |pages= 1161–7645–56 |year= 20032005 |pmid= 1220556315661758 |doi= 10.1093/hmg/ddi061 |doi-access= free }}

*{{cite journal | authorvauthors=MolletHoefele GJ, SalomonSudbrak R, GribouvalReinhardt OR, ''et al.''etal |title=TheMutational geneanalysis mutatedof inthe juvenileNPHP4 nephronophthisisgene typein 4 encodes a novel protein that250 interactspatients with nephrocystinnephronophthisis. |journal=NatHum. GenetMutat. |volume=3225 |issue= 24 |pages= 300–5411 |year= 20022006 |pmid= 1224432115776426 |doi= 10.10381002/ng996humu.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 | authorvauthors=StrausbergRoepman RLR, FeingoldLetteboer EASJ, GrouseArts LHHH, ''et al.''etal |title=GenerationInteraction andof initialnephrocystin-4 analysisand ofRPGRIP1 moreis thandisrupted 15,000by full-lengthnephronophthisis humanor andLeber mousecongenital cDNAamaurosis-associated sequencesmutations. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99102 |issue= 2651 |pages= 16899–90318520–5 |year= 20032006 |pmid= 1247793216339905 |doi= 10.1073/pnas.2426038990505774102 | pmc=1317916 |doi-access=free }}

*{{cite journal | authorvauthors=OtaSzafranski TK, SuzukiSchindler YS, NishikawaTaudien TS, ''et al.''etal |title=CompleteViolating sequencingthe andsplicing characterizationrules: ofTG 21,243dinucleotides full-lengthfunction humanas alternative 3' splice sites in U2-dependent cDNAsintrons. |journal=Nat. Genet.Genome Biology|volume=368 |issue= 18 |pages= 40–5R154 |year= 2004 2007|pmid= 1470203917672918 |doi= 10.10381186/ng1285gb-2007-8-8-r154 | pmc=2374985 |doi-access=free }}

*{{cite journal | authorvauthors=MolletMistry GK, SilbermannIreland FJH, DelousNg MRC, ''et al.''etal |title=CharacterizationNovel ofmutations thein nephrocystin/nephrocystin-4NPHP4 complexin anda subcellularconsanguineous localizationfamily ofwith nephrocystin-4histological tofindings primaryof ciliafocal andsegmental centrosomesglomerulosclerosis. |journal=HumAm. MolJ. GenetKidney Dis. |volume=1450 |issue= 5 |pages= 645–56855–64 |year= 20052007 |pmid= 1566175817954299 |doi= 10.10931053/hmg/ddi061j.ajkd.2007.08.009 }}

*{{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 | 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 | 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 }}

}}

{{refend}}

{{Ciliary proteins}}

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