Family

Nephrocystin-4 (IPR029775)

Short name: NPHP4

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

All nephrocystin proteins (NPHPs) localise to primary cilia, which are critical regulators of several cell signalling pathways for embryonic development and tissue homeostasis.

Nephrocystin-4 (NPHP4) localises to the basal body [PMID: 15661758] and is thought to be involved in basal body docking and organising ciliary trafficking [PMID: 21422230]. It is a negative regulator of canonical Wnt signalling [PMID: 21498478, PMID: 22654112]. Mutations in NPHP4 cause Nephronophthisis 4, an autosomal-recessive cystic kidney disease that belongs to a broad spectrum of disorders collectively termed ciliopathies [PMID: 12244321].

GO terms

Biological Process

GO:0090090 negative regulation of canonical Wnt signaling pathway

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0005856 cytoskeleton
GO:0097730 non-motile cilium

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER