InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NPHP3

Summary

InnateDB Protein

IDBP-480042.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NPHP3

Protein Name

nephronophthisis 3 (adolescent)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000419763

InnateDB Gene

IDBG-56896 (NPHP3)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:18371931}.

Subcellular Localization

Cell projection, cilium {ECO:0000269PubMed:20462968, ECO:0000269PubMed:22085962}. Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N- terminus.

Disease Associations

Nephronophthisis 3 (NPHP3) [MIM:604387]: 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. {ECO:0000269PubMed:12872122}. Note=The disease is caused by mutations affecting the gene represented in this entry.Renal-hepatic-pancreatic dysplasia 1 (RHPD1) [MIM:208540]: 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. {ECO:0000269PubMed:18371931}. Note=The disease is caused by mutations affecting the gene represented in this entry.Meckel syndrome 7 (MKS7) [MIM:267010]: 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. {ECO:0000269PubMed:18371931}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. {ECO:0000269PubMed:12872122}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001822	kidney development
GO:0001947	heart looping
GO:0003283	atrial septum development
GO:0007368	determination of left/right symmetry
GO:0016055	Wnt signaling pathway
GO:0030324	lung development
GO:0035469	determination of pancreatic left/right asymmetry
GO:0045494	photoreceptor cell maintenance
GO:0048496	maintenance of organ identity
GO:0060027	convergent extension involved in gastrulation
GO:0060271	cilium morphogenesis
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry
GO:0060993	kidney morphogenesis
GO:0071908	determination of intestine left/right asymmetry
GO:0071909	determination of stomach left/right asymmetry
GO:0071910	determination of liver left/right asymmetry
GO:0072189	ureter development
GO:0090090	negative regulation of canonical Wnt signaling pathway
GO:2000095	regulation of Wnt signaling pathway, planar cell polarity pathway
GO:2000167	regulation of planar cell polarity pathway involved in neural tube closure