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Protein

Nephrocystin-4

Gene

NPHP4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 recruit 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

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000131697.17
HGNCiHGNC:19104 NPHP4
MIMi607215 gene
neXtProtiNX_O75161

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 4 (NPHP4)6 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 dbSNP:rs190940697EnsemblClinVar.1
Natural variantiVAR_022530469R → W in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs758253306Ensembl.1
Natural variantiVAR_022534654A → G in NPHP4. 1 Publication1
Natural variantiVAR_022535735R → W in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs191913664EnsemblClinVar.1
Natural variantiVAR_015214754G → R in NPHP4; affects interaction with RPGRIP1L; disrupts interaction with RPGRIP1. 3 PublicationsCorresponds to variant dbSNP:rs373962831EnsemblClinVar.1
Natural variantiVAR_022538766Q → R in NPHP4; with color blindness. 1 Publication1
Natural variantiVAR_022539776P → R in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs201527181EnsemblClinVar.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 dbSNP:rs183885357EnsemblClinVar.1
Natural variantiVAR_015186991F → S in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs28940891EnsemblClinVar.1
Natural variantiVAR_0225441098A → T in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs41280798EnsemblClinVar.1
Natural variantiVAR_0225451192R → W in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant dbSNP:rs139022622EnsemblClinVar.1
Natural variantiVAR_0225471284R → C in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs779755743Ensembl.1
Natural variantiVAR_0225481287Q → E in NPHP4; with hearing loss. 1 PublicationCorresponds to variant dbSNP:rs201779243EnsemblClinVar.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).1 Publication
Senior-Loken syndrome 4 (SLSN4)4 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 dbSNP:rs145078518Ensembl.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 dbSNP:rs201065230EnsemblClinVar.1
Natural variantiVAR_022533627T → M in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs199891059Ensembl.1
Natural variantiVAR_022542946T → A in SLSN4. 1 Publication1
Natural variantiVAR_0225461225T → M in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs144624477EnsemblClinVar.1
May be involved in male infertility. Homozygosity for a frameshift truncating mutation are associated with markedly abnormal sperm morphology.1 Publication
May be involved in cardiac laterality defects and heterotaxy. Homozygosity for a frameshift truncating mutation are associated with markedly abnormal sperm morphology.1 Publication

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

EPDiO75161
MaxQBiO75161
PaxDbiO75161
PeptideAtlasiO75161
PRIDEiO75161
ProteomicsDBi49828

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 Expressed in 134 organ(s), highest expression level in adenohypophysis
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

Protein-protein interaction databases

BioGridi129286, 52 interactors
CORUMiO75161
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
OMAiHNTQHTV
OrthoDBiEOG091G0B0B
PhylomeDBiO75161
TreeFamiTF351573

Family and domain databases

InterProiView protein in InterPro
IPR029775 NPHP4
PANTHERiPTHR31043 PTHR31043, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RA06D6RA06_HUMAN
Nephrocystin-4
NPHP4
262Annotation score:
H0YA08H0YA08_HUMAN
Nephrocystin-4
NPHP4
138Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0225263D → Y in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs145078518Ensembl.1
Natural variantiVAR_02252729T → M1 PublicationCorresponds to variant dbSNP:rs12142270EnsemblClinVar.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 dbSNP:rs201065230EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs761063669EnsemblClinVar.1
Natural variantiVAR_079179315T → M1 PublicationCorresponds to variant dbSNP:rs200684272EnsemblClinVar.1
Natural variantiVAR_022529342R → C in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs190940697EnsemblClinVar.1
Natural variantiVAR_022530469R → W in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs758253306Ensembl.1
Natural variantiVAR_076786541P → L Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs145255635EnsemblClinVar.1
Natural variantiVAR_022531544A → G1 PublicationCorresponds to variant dbSNP:rs12093500EnsemblClinVar.1
Natural variantiVAR_022532618E → K1 PublicationCorresponds to variant dbSNP:rs571655EnsemblClinVar.1
Natural variantiVAR_022533627T → M in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs199891059Ensembl.1
Natural variantiVAR_022534654A → G in NPHP4. 1 Publication1
Natural variantiVAR_022535735R → W in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs191913664EnsemblClinVar.1
Natural variantiVAR_022536740R → H Polymorphism; does not affect interaction with RPGRIP1L; does not affect interaction with RPGRIP1. 3 PublicationsCorresponds to variant dbSNP:rs34248917EnsemblClinVar.1
Natural variantiVAR_015214754G → R in NPHP4; affects interaction with RPGRIP1L; disrupts interaction with RPGRIP1. 3 PublicationsCorresponds to variant dbSNP:rs373962831EnsemblClinVar.1
Natural variantiVAR_022537765V → I1 PublicationCorresponds to variant dbSNP:rs149244006EnsemblClinVar.1
Natural variantiVAR_022538766Q → R in NPHP4; with color blindness. 1 Publication1
Natural variantiVAR_022539776P → R in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs201527181EnsemblClinVar.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 dbSNP:rs17472401EnsemblClinVar.1
Natural variantiVAR_076787883V → M Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs769851221EnsemblClinVar.1
Natural variantiVAR_076788906R → C Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199992272EnsemblClinVar.1
Natural variantiVAR_037622939L → Q. Corresponds to variant dbSNP:rs1287637Ensembl.1
Natural variantiVAR_022541940 – 941Missing 1 Publication2
Natural variantiVAR_022542946T → A in SLSN4. 1 Publication1
Natural variantiVAR_037623959R → Q. Corresponds to variant dbSNP:rs12084067EnsemblClinVar.1
Natural variantiVAR_022543961R → H in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant dbSNP:rs183885357EnsemblClinVar.1
Natural variantiVAR_015186991F → S in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs28940891EnsemblClinVar.1
Natural variantiVAR_0767891044R → H Found in a patient with cardiac laterality defects; fails to rescue heart looping defects in zebrafish knockout. 1 PublicationCorresponds to variant dbSNP:rs375819124Ensembl.1
Natural variantiVAR_0225441098A → T in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs41280798EnsemblClinVar.1
Natural variantiVAR_0767901110A → V Found in a patient with cardiac laterality defects; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139767853EnsemblClinVar.1
Natural variantiVAR_0225451192R → W in NPHP4; also found in a patient with cardiac laterality defects. 2 PublicationsCorresponds to variant dbSNP:rs139022622EnsemblClinVar.1
Natural variantiVAR_0225461225T → M in SLSN4. 1 PublicationCorresponds to variant dbSNP:rs144624477EnsemblClinVar.1
Natural variantiVAR_0767911236V → M Found in a patient with cardiac laterality defects; fails to rescue heart looping defects in zebrafish knockout. 1 PublicationCorresponds to variant dbSNP:rs781049266Ensembl.1
Natural variantiVAR_0225471284R → C in NPHP4. 1 PublicationCorresponds to variant dbSNP:rs779755743Ensembl.1
Natural variantiVAR_0225481287Q → E in NPHP4; with hearing loss. 1 PublicationCorresponds to variant dbSNP:rs201779243EnsemblClinVar.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

Similar proteinsi

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, 52 interactors
CORUMiO75161
IntActiO75161, 84 interactors
STRINGi9606.ENSP00000367398

PTM databases

iPTMnetiO75161
PhosphoSitePlusiO75161

Polymorphism and mutation databases

BioMutaiNPHP4

Proteomic databases

EPDiO75161
MaxQBiO75161
PaxDbiO75161
PeptideAtlasiO75161
PRIDEiO75161
ProteomicsDBi49828

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
EuPathDBiHostDB:ENSG00000131697.17
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
OMAiHNTQHTV
OrthoDBiEOG091G0B0B
PhylomeDBiO75161
TreeFamiTF351573

Enzyme and pathway databases

ReactomeiR-HSA-2028269 Signaling by Hippo
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

Miscellaneous databases

ChiTaRSiNPHP4 human
GeneWikiiNPHP4
GenomeRNAii261734
PROiPR:O75161
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131697 Expressed in 134 organ(s), highest expression level in adenohypophysis
CleanExiHS_NPHP4
ExpressionAtlasiO75161 baseline and differential
GenevisibleiO75161 HS

Family and domain databases

InterProiView protein in InterPro
IPR029775 NPHP4
PANTHERiPTHR31043 PTHR31043, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNPHP4_HUMAN
AccessioniPrimary (citable) accession number: O75161
Secondary accession number(s): Q8IWC0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: January 27, 2003
Last modified: September 12, 2018
This is version 147 of the entry and version 2 of the sequence. See 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
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