NPHP4
entrez
261734
canonical
uniprot
O75161
canonical
ensembl
ENSG00000131697
resolver
ensp
ENSP00000367398
resolver
ensp
ENSP00000593621
resolver
ensp
ENSP00000593624
resolver
ensp
ENSP00000625325
resolver
ensp
ENSP00000625327
resolver
ensp
ENSP00000625328
resolver
ensp
ENSP00000625331
resolver
ensp
ENSP00000686901
resolver
ensp
ENSP00000785968
resolver
genesymbol
NPHP4
resolver
genesymbol_syn
KIAA0673
resolver
hgnc
HGNC:19104
resolver
uniprot
B3KW36
resolver
uniprot
Q8IWC0
resolver
uniprot_entry
B3KW36_HUMAN
resolver
uniprot_entry
NPHP4_HUMAN
resolver
uniprot_sec
Q8IWC0
resolver
amino_acid_sequence
MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLSLAITTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRDIFLKVASGPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ
uniprot
proteins
disease_involvement
DISEASE: Nephronophthisis 4 (NPHP4) [MIM:606966]: An 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. {ECO:0000269|PubMed:12205563, ECO:0000269|PubMed:12244321, ECO:0000269|PubMed:15776426, ECO:0000269|PubMed:16339905, ECO:0000269|PubMed:17558407, ECO:0000269|PubMed:22550138}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=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). {ECO:0000269|PubMed:21258341}.; DISEASE: Senior-Loken syndrome 4 (SLSN4) [MIM:606996]: A 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. {ECO:0000269|PubMed:12244321, ECO:0000269|PubMed:15776426, ECO:0000269|PubMed:21546380, ECO:0000269|PubMed:22550138}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=May be involved in male infertility. Homozygosity for a frameshift truncating mutation are associated with markedly abnormal sperm morphology. {ECO:0000269|PubMed:23574405}.; DISEASE: Note=May be involved in cardiac laterality defects and heterotaxy. {ECO:0000305|PubMed:22550138}.
uniprot
proteins
function
FUNCTION: 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 down-regulate 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 a negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462). {ECO:0000250|UniProtKB:B0DOB4, ECO:0000250|UniProtKB:P59240, ECO:0000269|PubMed:21498478, ECO:0000269|PubMed:21555462, ECO:0000269|PubMed:21565611, ECO:0000269|PubMed:22654112, ECO:0000305|PubMed:19755384}.
uniprot
proteins
mass_dalton
157598
uniprot
proteins
protein_family
NPHP4 family
uniprot
proteins
pubmed
12205563
uniprot
proteins
pubmed
12244321
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15661758
uniprot
proteins
pubmed
15776426
uniprot
proteins
pubmed
16339905
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17558407
uniprot
proteins
pubmed
19755384
uniprot
proteins
pubmed
21224891
uniprot
proteins
pubmed
21258341
uniprot
proteins
pubmed
21498478
uniprot
proteins
pubmed
21546380
uniprot
proteins
pubmed
21555462
uniprot
proteins
pubmed
21565611
uniprot
proteins
pubmed
22550138
uniprot
proteins
pubmed
22654112
uniprot
proteins
pubmed
22863007
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23574405
uniprot
proteins
pubmed
26294103
uniprot
proteins
pubmed
26644512
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
1426
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:17558407, ECO:0000269|PubMed:26644512}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17558407}. Cell junction, tight junction {ECO:0000250|UniProtKB:P59240}. Nucleus {ECO:0000269|PubMed:22654112}. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions (By similarity). Localizes to the ciliary transition zone (By similarity). In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). {ECO:0000250|UniProtKB:P59240}.
uniprot
proteins