NPHP3

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined. [provided by RefSeq]

nephronophthisis 3 (adolescent)

Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.

Atrial septum developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Cilium assemblyISS:UniProtKB
Convergent extension involved in gastrulationManual Assertion Based On ExperimentIGI:BHF-UCL
Determination of intestine left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of left/right symmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of liver left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of pancreatic left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Determination of stomach left/right asymmetryManual Assertion Based On ExperimentIMP:BHF-UCL
Epithelial cilium movement involved in determination of left/right asymmetryIC:BHF-UCL
Heart loopingManual Assertion Based On ExperimentIMP:BHF-UCL
Kidney developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Kidney morphogenesisManual Assertion Based On ExperimentIMP:BHF-UCL
Lung developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Maintenance of animal organ identityManual Assertion Based On ExperimentIMP:HGNC-UCL
Negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIDA:UniProtKB
Photoreceptor cell maintenanceManual Assertion Based On ExperimentIMP:HGNC-UCL
Regulation of planar cell polarity pathway involved in neural tube closure1 PublicationIC:BHF-UCL
Regulation of Wnt signaling pathway, planar cell polarity pathwayISS:UniProtKB
Ureter developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Wnt signaling pathwayIEA:UniProtKB-KW

Cell projection, cilium
Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.

Nephronophthisis 3 (NPHP3):
An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.
Renal-hepatic-pancreatic dysplasia 1 (RHPD1):
A disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates.
Meckel syndrome 7 (MKS7):
A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.