InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NPHP4

Summary

InnateDB Protein

IDBP-87084.6

Last Modified

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

Gene Symbol

NPHP4

Protein Name

nephronophthisis 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000367398

InnateDB Gene

IDBG-87072 (NPHP4)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction. Note=In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions.

Disease Associations

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:0000269PubMed:12205563, ECO:0000269PubMed:12244321, ECO:0000269PubMed:15776426}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.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:0000269PubMed:12244321, ECO:0000269PubMed:15776426}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung. {ECO:0000269PubMed:12244321}.

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 185 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	185 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005515	protein binding

Biological Process

GO:0007165	signal transduction
GO:0007632	visual behavior
GO:0016337	single organismal cell-cell adhesion
GO:0030036	actin cytoskeleton organization
GO:0035329	hippo signaling
GO:0060041	retina development in camera-type eye