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Protein

Nephrocystin-4

Gene

NPHP4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruits INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462).By similarity1 Publication4 Publications

GO - Molecular functioni

  • structural molecule activity Source: UniProtKB

GO - Biological processi

  • actin cytoskeleton organization Source: UniProtKB
  • flagellated sperm motility Source: Ensembl
  • hippo signaling Source: Reactome
  • negative regulation of canonical Wnt signaling pathway Source: UniProtKB
  • photoreceptor cell maintenance Source: Ensembl
  • photoreceptor cell outer segment organization Source: Ensembl
  • positive regulation of bicellular tight junction assembly Source: UniProtKB
  • retina development in camera-type eye Source: Ensembl
  • signal transduction Source: UniProtKB
  • single organismal cell-cell adhesion Source: UniProtKB
  • visual behavior Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131697-MONOMER.
ReactomeiR-HSA-2028269. Signaling by Hippo.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Nephrocystin-4
Alternative name(s):
Nephroretinin
Gene namesi
Name:NPHP4
Synonyms:KIAA0673
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:19104. NPHP4.

Subcellular locationi

GO - Cellular componenti

  • bicellular tight junction Source: UniProtKB-SubCell
  • cell-cell junction Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary base Source: Ensembl
  • cytosol Source: Reactome
  • membrane Source: UniProtKB
  • nucleus Source: UniProtKB-SubCell
  • photoreceptor connecting cilium Source: Ensembl
  • ribbon synapse Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus, Tight junction

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 4 (NPHP4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive inherited disease resulting in end-stage renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts.
See also OMIM:606966
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022529342R → C in NPHP4. 1 PublicationCorresponds to variant rs190940697dbSNPEnsembl.1
Natural variantiVAR_022530469R → W in NPHP4. 1 PublicationCorresponds to variant rs758253306dbSNPEnsembl.1
Natural variantiVAR_022534654A → G in NPHP4. 1 Publication1
Natural variantiVAR_022535735R → W in NPHP4. 1 PublicationCorresponds to variant rs191913664dbSNPEnsembl.1
Natural variantiVAR_015214754G → R in NPHP4; affects interaction with RPGRIP1L; disrupts interaction with RPGRIP1. 3 PublicationsCorresponds to variant rs373962831dbSNPEnsembl.1
Natural variantiVAR_022538766Q → R in NPHP4; with color blindness. 1 Publication1
Natural variantiVAR_022539776P → R in NPHP4. 1 PublicationCorresponds to variant rs201527181dbSNPEnsembl.1
Natural variantiVAR_022540782H → Q in NPHP4. 1 Publication1
Natural variantiVAR_022543961R → H in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant rs183885357dbSNPEnsembl.1
Natural variantiVAR_015186991F → S in NPHP4. 1 PublicationCorresponds to variant rs28940891dbSNPEnsembl.1
Natural variantiVAR_0225441098A → T in NPHP4. 1 PublicationCorresponds to variant rs41280798dbSNPEnsembl.1
Natural variantiVAR_0225451192R → W in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant rs139022622dbSNPEnsembl.1
Natural variantiVAR_0225471284R → C in NPHP4. 1 PublicationCorresponds to variant rs779755743dbSNPEnsembl.1
Natural variantiVAR_0225481287Q → E in NPHP4; with hearing loss. 1 PublicationCorresponds to variant rs201779243dbSNPEnsembl.1

Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4, influence the clinical outcome (PubMed:21258341).

Senior-Loken syndrome 4 (SLSN4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
See also OMIM:606996
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0225263D → Y in SLSN4. 1 PublicationCorresponds to variant rs145078518dbSNPEnsembl.1
Natural variantiVAR_02252891F → L in SLSN4; also found in a patient with cardiac laterality defects; impairs localization to the ciliary transition zone. 1 Publication2 PublicationsCorresponds to variant rs201065230dbSNPEnsembl.1
Natural variantiVAR_022533627T → M in SLSN4. 1 PublicationCorresponds to variant rs199891059dbSNPEnsembl.1
Natural variantiVAR_022542946T → A in SLSN4. 1 Publication1
Natural variantiVAR_0225461225T → M in SLSN4. 1 PublicationCorresponds to variant rs144624477dbSNPEnsembl.1

May be involved in male infertility. Homozygosity for a frameshift truncating mutation are associated with markedly abnormal sperm morphology.

May be involved in cardiac laterality defects and heterotaxy. Homozygosity for a frameshift truncating mutation are associated with markedly abnormal sperm morphology.

Keywords - Diseasei

Ciliopathy, Disease mutation, Leber congenital amaurosis, Nephronophthisis, Senior-Loken syndrome

Organism-specific databases

DisGeNETi261734.
MalaCardsiNPHP4.
MIMi606966. phenotype.
606996. phenotype.
OpenTargetsiENSG00000131697.
Orphaneti93592. Juvenile nephronophthisis.
3156. Senior-Loken syndrome.
PharmGKBiPA134927048.

Polymorphism and mutation databases

BioMutaiNPHP4.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001597691 – 1426Nephrocystin-4Add BLAST1426

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei142PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO75161.
PaxDbiO75161.
PeptideAtlasiO75161.
PRIDEiO75161.

PTM databases

iPTMnetiO75161.
PhosphoSitePlusiO75161.

Expressioni

Tissue specificityi

Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.1 Publication

Gene expression databases

BgeeiENSG00000131697.
CleanExiHS_NPHP4.
ExpressionAtlasiO75161. baseline and differential.
GenevisibleiO75161. HS.

Organism-specific databases

HPAiHPA065526.

Interactioni

Subunit structurei

Interacts with NPHP1 (PubMed:15661758). Interacts with NPHP1 and RPGRIP1L/NPHP8; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L. Interacts with IQCB1/NPHP5; the interaction likely requires additional interactors (By similarity). Interacts with RPGRIP1, CEP164, JADE1, MPP5, INADL, PARD6A, INVS, DVL2, LATS1. Interacts with INTU; INTU mediates the interaction between NPHP4 and DAAM1.By similarity9 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
INTUQ9ULD62EBI-4281852,EBI-11762696
JADE1Q6IE814EBI-4281852,EBI-954672
NPHP1O1525917EBI-4281852,EBI-953828
PTK2BQ142892EBI-4281852,EBI-298640
RPGRQ928342EBI-4281852,EBI-6558417
RPGRIP1Q96KN7-19EBI-12499345,EBI-12499377
RPGRIP1LQ68CZ1-28EBI-4281852,EBI-9356215

Protein-protein interaction databases

BioGridi129286. 43 interactors.
IntActiO75161. 84 interactors.
STRINGi9606.ENSP00000367398.

Structurei

3D structure databases

ProteinModelPortaliO75161.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni823 – 1426Sufficient for basal bodies localization1 PublicationAdd BLAST604

Sequence similaritiesi

Belongs to the NPHP4 family.Curated

Phylogenomic databases

eggNOGiENOG410IEHW. Eukaryota.
ENOG410XW3A. LUCA.
GeneTreeiENSGT00510000048827.
HOGENOMiHOG000049142.
HOVERGENiHBG024036.
InParanoidiO75161.
KOiK16478.
OMAiFALKNPY.
OrthoDBiEOG091G0B0B.
PhylomeDBiO75161.
TreeFamiTF351573.

Family and domain databases

InterProiIPR029775. NPHP4.
[Graphical view]
PANTHERiPTHR31043:SF3. PTHR31043:SF3. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75161-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNDWHRIFTQ NVLVPPHPQR ARQPWKESTA FQCVLKWLDG PVIRQGVLEV
60 70 80 90 100
LSEVECHLRV SFFDVTYRHF FGRTWKTTVK PTKRPPSRIV FNEPLYFHTS
110 120 130 140 150
LNHPHIVAVV EVVAEGKKRD GSLQTLSCGF GILRIFSNQP DSPISASQDK
160 170 180 190 200
RLRLYHGTPR ALLHPLLQDP AEQNRHMTLI ENCSLQYTLK PHPALEPAFH
210 220 230 240 250
LLPENLLVSG LQQIPGLLPA HGESGDALRK PRLQKPITGH LDDLFFTLYP
260 270 280 290 300
SLEKFEEELL ELHVQDHFQE GCGPLDGGAL EILERRLRVG VHNGLGFVQR
310 320 330 340 350
PQVVVLVPEM DVALTRSASF SRKVVSSSKT SSGSQALVLR SRLRLPEMVG
360 370 380 390 400
HPAFAVIFQL EYVFSSPAGV DGNAASVTSL SNLACMHMVR WAVWNPLLEA
410 420 430 440 450
DSGRVTLPLQ GGIQPNPSHC LVYKVPSASM SSEEVKQVES GTLRFQFSLG
460 470 480 490 500
SEEHLDAPTE PVSGPKVERR PSRKPPTSPS SPPAPVPRVL AAPQNSPVGP
510 520 530 540 550
GLSISQLAAS PRSPTQHCLA RPTSQLPHGS QASPAQAQEF PLEAGISHLE
560 570 580 590 600
ADLSQTSLVL ETSIAEQLQE LPFTPLHAPI VVGTQTRSSA GQPSRASMVL
610 620 630 640 650
LQSSGFPEIL DANKQPAEAV SATEPVTFNP QKEESDCLQS NEMVLQFLAF
660 670 680 690 700
SRVAQDCRGT SWPKTVYFTF QFYRFPPATT PRLQLVQLDE AGQPSSGALT
710 720 730 740 750
HILVPVSRDG TFDAGSPGFQ LRYMVGPGFL KPGERRCFAR YLAVQTLQID
760 770 780 790 800
VWDGDSLLLI GSAAVQMKHL LRQGRPAVQA SHELEVVATE YEQDNMVVSG
810 820 830 840 850
DMLGFGRVKP IGVHSVVKGR LHLTLANVGH PCEQKVRGCS TLPPSRSRVI
860 870 880 890 900
SNDGASRFSG GSLLTTGSSR RKHVVQAQKL ADVDSELAAM LLTHARQGKG
910 920 930 940 950
PQDVSRESDA TRRRKLERMR SVRLQEAGGD LGRRGTSVLA QQSVRTQHLR
960 970 980 990 1000
DLQVIAAYRE RTKAESIASL LSLAITTEHT LHATLGVAEF FEFVLKNPHN
1010 1020 1030 1040 1050
TQHTVTVEID NPELSVIVDS QEWRDFKGAA GLHTPVEEDM FHLRGSLAPQ
1060 1070 1080 1090 1100
LYLRPHETAH VPFKFQSFSA GQLAMVQASP GLSNEKGMDA VSPWKSSAVP
1110 1120 1130 1140 1150
TKHAKVLFRA SGGKPIAVLC LTVELQPHVV DQVFRFYHPE LSFLKKAIRL
1160 1170 1180 1190 1200
PPWHTFPGAP VGMLGEDPPV HVRCSDPNVI CETQNVGPGE PRDIFLKVAS
1210 1220 1230 1240 1250
GPSPEIKDFF VIIYSDRWLA TPTQTWQVYL HSLQRVDVSC VAGQLTRLSL
1260 1270 1280 1290 1300
VLRGTQTVRK VRAFTSHPQE LKTDPKGVFV LPPRGVQDLH VGVRPLRAGS
1310 1320 1330 1340 1350
RFVHLNLVDV DCHQLVASWL VCLCCRQPLI SKAFEIMLAA GEGKGVNKRI
1360 1370 1380 1390 1400
TYTNPYPSRR TFHLHSDHPE LLRFREDSFQ VGGGETYTIG LQFAPSQRVG
1410 1420
EEEILIYIND HEDKNEEAFC VKVIYQ
Length:1,426
Mass (Da):157,598
Last modified:January 27, 2003 - v2
Checksum:i8C974278F4EE4505
GO
Isoform 2 (identifier: O75161-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     538-538: Missing.
     872-912: KHVVQAQKLA...DVSRESDATR → WALQATVLFG...NGEKVRRNID
     913-1426: Missing.

Note: No experimental confirmation available.
Show »
Length:911
Mass (Da):99,953
Checksum:i070AACB893EEDFC7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0225263D → Y in SLSN4. 1 PublicationCorresponds to variant rs145078518dbSNPEnsembl.1
Natural variantiVAR_02252729T → M.1 PublicationCorresponds to variant rs12142270dbSNPEnsembl.1
Natural variantiVAR_02252891F → L in SLSN4; also found in a patient with cardiac laterality defects; impairs localization to the ciliary transition zone. 1 Publication2 PublicationsCorresponds to variant rs201065230dbSNPEnsembl.1
Natural variantiVAR_065557160R → L in a patient with nephronophthisis with extra-renal features; the patient also carries W-735 in the same gene and L-209 in TTC21B. 1 Publication1
Natural variantiVAR_076785164H → Y Found in a patient with cardiac laterality defects; unknown pathological significance. 1 Publication1
Natural variantiVAR_022529342R → C in NPHP4. 1 PublicationCorresponds to variant rs190940697dbSNPEnsembl.1
Natural variantiVAR_022530469R → W in NPHP4. 1 PublicationCorresponds to variant rs758253306dbSNPEnsembl.1
Natural variantiVAR_076786541P → L Found in a patient with cardiac laterality defects; unknown pathological significance. 1 Publication1
Natural variantiVAR_022531544A → G.1 PublicationCorresponds to variant rs12093500dbSNPEnsembl.1
Natural variantiVAR_022532618E → K.1 PublicationCorresponds to variant rs571655dbSNPEnsembl.1
Natural variantiVAR_022533627T → M in SLSN4. 1 PublicationCorresponds to variant rs199891059dbSNPEnsembl.1
Natural variantiVAR_022534654A → G in NPHP4. 1 Publication1
Natural variantiVAR_022535735R → W in NPHP4. 1 PublicationCorresponds to variant rs191913664dbSNPEnsembl.1
Natural variantiVAR_022536740R → H Polymorphism; does not affect interaction with RPGRIP1L; does not affect interaction with RPGRIP1. 3 PublicationsCorresponds to variant rs34248917dbSNPEnsembl.1
Natural variantiVAR_015214754G → R in NPHP4; affects interaction with RPGRIP1L; disrupts interaction with RPGRIP1. 3 PublicationsCorresponds to variant rs373962831dbSNPEnsembl.1
Natural variantiVAR_022537765V → I.1 PublicationCorresponds to variant rs149244006dbSNPEnsembl.1
Natural variantiVAR_022538766Q → R in NPHP4; with color blindness. 1 Publication1
Natural variantiVAR_022539776P → R in NPHP4. 1 PublicationCorresponds to variant rs201527181dbSNPEnsembl.1
Natural variantiVAR_022540782H → Q in NPHP4. 1 Publication1
Natural variantiVAR_015215848R → W Polymorphism; does not affect interaction with RPGRIP1L; does not affect interaction with RPGRIP1. 4 PublicationsCorresponds to variant rs17472401dbSNPEnsembl.1
Natural variantiVAR_076787883V → M Found in a patient with cardiac laterality defects; unknown pathological significance. 1 Publication1
Natural variantiVAR_076788906R → C Found in a patient with cardiac laterality defects; unknown pathological significance. 1 Publication1
Natural variantiVAR_037622939L → Q.Corresponds to variant rs1287637dbSNPEnsembl.1
Natural variantiVAR_022541940 – 941Missing .1 Publication2
Natural variantiVAR_022542946T → A in SLSN4. 1 Publication1
Natural variantiVAR_037623959R → Q.Corresponds to variant rs12084067dbSNPEnsembl.1
Natural variantiVAR_022543961R → H in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant rs183885357dbSNPEnsembl.1
Natural variantiVAR_015186991F → S in NPHP4. 1 PublicationCorresponds to variant rs28940891dbSNPEnsembl.1
Natural variantiVAR_0767891044R → H Found in a patient with cardiac laterality defects; fails to rescue heart looping defects in zebrafish knockout. 1 Publication1
Natural variantiVAR_0225441098A → T in NPHP4. 1 PublicationCorresponds to variant rs41280798dbSNPEnsembl.1
Natural variantiVAR_0767901110A → V Found in a patient with cardiac laterality defects; unknown pathological significance. 1 Publication1
Natural variantiVAR_0225451192R → W in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant rs139022622dbSNPEnsembl.1
Natural variantiVAR_0225461225T → M in SLSN4. 1 PublicationCorresponds to variant rs144624477dbSNPEnsembl.1
Natural variantiVAR_0767911236V → M Found in a patient with cardiac laterality defects; fails to rescue heart looping defects in zebrafish knockout. 1 Publication1
Natural variantiVAR_0225471284R → C in NPHP4. 1 PublicationCorresponds to variant rs779755743dbSNPEnsembl.1
Natural variantiVAR_0225481287Q → E in NPHP4; with hearing loss. 1 PublicationCorresponds to variant rs201779243dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054514538Missing in isoform 2. 1 Publication1
Alternative sequenceiVSP_054515872 – 912KHVVQ…SDATR → WALQATVLFGEVGTLPVAFV SGWLLICKGRRNGEKVRRNI D in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_054516913 – 1426Missing in isoform 2. 1 PublicationAdd BLAST514

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY118228 mRNA. Translation: AAM78558.1.
AF537130 mRNA. Translation: AAN06814.1.
AL035406 Genomic DNA. No translation available.
AL356261 Genomic DNA. No translation available.
AL356693 Genomic DNA. No translation available.
CH471130 Genomic DNA. Translation: EAW71509.1.
BC040520 mRNA. Translation: AAH40520.1.
AB014573 mRNA. Translation: BAA31648.1.
CCDSiCCDS44052.1. [O75161-1]
PIRiT00364.
RefSeqiNP_001278522.1. NM_001291593.1.
NP_001278523.1. NM_001291594.1.
NP_055917.1. NM_015102.4. [O75161-1]
XP_006710626.1. XM_006710563.3. [O75161-1]
XP_011539518.1. XM_011541216.2. [O75161-1]
XP_011539519.1. XM_011541217.2. [O75161-1]
XP_011539520.1. XM_011541218.2. [O75161-1]
XP_016856486.1. XM_017000997.1. [O75161-1]
UniGeneiHs.462348.

Genome annotation databases

EnsembliENST00000378156; ENSP00000367398; ENSG00000131697. [O75161-1]
ENST00000489180; ENSP00000423747; ENSG00000131697. [O75161-2]
ENST00000622020; ENSP00000481831; ENSG00000131697. [O75161-2]
GeneIDi261734.
KEGGihsa:261734.
UCSCiuc001alq.3. human. [O75161-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY118228 mRNA. Translation: AAM78558.1.
AF537130 mRNA. Translation: AAN06814.1.
AL035406 Genomic DNA. No translation available.
AL356261 Genomic DNA. No translation available.
AL356693 Genomic DNA. No translation available.
CH471130 Genomic DNA. Translation: EAW71509.1.
BC040520 mRNA. Translation: AAH40520.1.
AB014573 mRNA. Translation: BAA31648.1.
CCDSiCCDS44052.1. [O75161-1]
PIRiT00364.
RefSeqiNP_001278522.1. NM_001291593.1.
NP_001278523.1. NM_001291594.1.
NP_055917.1. NM_015102.4. [O75161-1]
XP_006710626.1. XM_006710563.3. [O75161-1]
XP_011539518.1. XM_011541216.2. [O75161-1]
XP_011539519.1. XM_011541217.2. [O75161-1]
XP_011539520.1. XM_011541218.2. [O75161-1]
XP_016856486.1. XM_017000997.1. [O75161-1]
UniGeneiHs.462348.

3D structure databases

ProteinModelPortaliO75161.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129286. 43 interactors.
IntActiO75161. 84 interactors.
STRINGi9606.ENSP00000367398.

PTM databases

iPTMnetiO75161.
PhosphoSitePlusiO75161.

Polymorphism and mutation databases

BioMutaiNPHP4.

Proteomic databases

MaxQBiO75161.
PaxDbiO75161.
PeptideAtlasiO75161.
PRIDEiO75161.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378156; ENSP00000367398; ENSG00000131697. [O75161-1]
ENST00000489180; ENSP00000423747; ENSG00000131697. [O75161-2]
ENST00000622020; ENSP00000481831; ENSG00000131697. [O75161-2]
GeneIDi261734.
KEGGihsa:261734.
UCSCiuc001alq.3. human. [O75161-1]

Organism-specific databases

CTDi261734.
DisGeNETi261734.
GeneCardsiNPHP4.
HGNCiHGNC:19104. NPHP4.
HPAiHPA065526.
MalaCardsiNPHP4.
MIMi606966. phenotype.
606996. phenotype.
607215. gene.
neXtProtiNX_O75161.
OpenTargetsiENSG00000131697.
Orphaneti93592. Juvenile nephronophthisis.
3156. Senior-Loken syndrome.
PharmGKBiPA134927048.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEHW. Eukaryota.
ENOG410XW3A. LUCA.
GeneTreeiENSGT00510000048827.
HOGENOMiHOG000049142.
HOVERGENiHBG024036.
InParanoidiO75161.
KOiK16478.
OMAiFALKNPY.
OrthoDBiEOG091G0B0B.
PhylomeDBiO75161.
TreeFamiTF351573.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000131697-MONOMER.
ReactomeiR-HSA-2028269. Signaling by Hippo.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.

Miscellaneous databases

ChiTaRSiNPHP4. human.
GeneWikiiNPHP4.
GenomeRNAii261734.
PROiO75161.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131697.
CleanExiHS_NPHP4.
ExpressionAtlasiO75161. baseline and differential.
GenevisibleiO75161. HS.

Family and domain databases

InterProiIPR029775. NPHP4.
[Graphical view]
PANTHERiPTHR31043:SF3. PTHR31043:SF3. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNPHP4_HUMAN
AccessioniPrimary (citable) accession number: O75161
Secondary accession number(s): Q8IWC0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: January 27, 2003
Last modified: November 30, 2016
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.