NPHP4: Difference between revisions

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

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{{Infobox_gene}}

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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/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=261734}}</ref>

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{{GNF_Protein_box

| image =

| image_source =

| PDB =

| Name = Nephronophthisis 4

| HGNCid = 19104

| Symbol = NPHP4

| AltSymbols =; KIAA0673; SLSN4

| OMIM = 607215

| ECnumber =

| Homologene = 9024

| MGIid = 2384210

| GeneAtlas_image1 = PBB_GE_NPHP4_213471_at_tn.png

| GeneAtlas_image2 = PBB_GE_NPHP4_216344_at_tn.png

| Function = {{GNF_GO|id=GO:0005198 |text = structural molecule activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}}

| Component = {{GNF_GO|id=GO:0016020 |text = membrane}}

| Process = {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007632 |text = visual behavior}} {{GNF_GO|id=GO:0016337 |text = cell-cell adhesion}} {{GNF_GO|id=GO:0030036 |text = actin cytoskeleton organization and biogenesis}}

| Orthologs = {{GNF_Ortholog_box

| Hs_EntrezGene = 261734

| Hs_Ensembl = ENSG00000131697

| Hs_RefseqProtein = NP_055917

| Hs_RefseqmRNA = NM_015102

| Hs_GenLoc_db =

| Hs_GenLoc_chr = 1

| Hs_GenLoc_start = 5845457

| Hs_GenLoc_end = 5975120

| Hs_Uniprot = O75161

| Mm_EntrezGene = 260305

| Mm_Ensembl = ENSMUSG00000039577

| Mm_RefseqmRNA = NM_153424

| Mm_RefseqProtein = NP_700473

| Mm_GenLoc_db =

| Mm_GenLoc_chr = 4

| Mm_GenLoc_start = 151321942

| Mm_GenLoc_end = 151406982

| Mm_Uniprot = Q80UJ2

}}

}}

'''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>

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

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{{PBB_Summary

| 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>

| 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}}

{{gene-1-stub}}