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Protein Page:
NPHP4

Overview
NPHP4 Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis. Defects in NPHP4 are the cause of nephronophthisis type 4 (NPHP4); also known as familial juvenile nephronophthisis 4. NPHP4 is 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. 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. Defects in NPHP4 are the cause of Senior-Loken syndrome type 4 (SLSN4). SLSN is a renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney, with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Belongs to the NPHP4 family. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 4|4 E2
Cellular Component: bicellular tight junction; cell junction; cell projection; centrosome; cilium; cytoplasm; cytoskeleton; intercellular junction; photoreceptor connecting cilium
Molecular Function: protein binding
Biological Process: photoreceptor cell maintenance; retina development in camera-type eye; sperm motility
Reference #:  P59240 (UniProtKB)
Alt. Names/Synonyms: 4930564O18Rik; Nephrocystin-4; nephronophthisis 4 (juvenile) homolog (human); Nephroretinin; Nphp4; OTTMUSP00000011441
Gene Symbols: Nphp4
Molecular weight: 157,269 Da
Basal Isoelectric point: 7.68  Predict pI for various phosphorylation states
Select Structure to View Below

NPHP4

Protein Structure Not Found.

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