Family

Rotatin (IPR030791)

Short name: Rotatin

Family relationships

None.

Description

Rotatin (RTTN) is a centriolar protein that appears to be required for cilia function [PMID: 19948479]. Mouse RTTN is required for embryonic axial rotation, and left-right specification. It is essential for the correct expression of the key left-right specification genes nodal, lefty and Pitx2 [PMID: 11900971]. The Drosophila homologue of rotatin, Anastral spindle 3 (Ana3), is needed for structural integrity of centrioles and basal bodies [PMID: 19948479]. Rotatin colocalises with the basal bodies at the primary cilium, and has a role in cilia structure and function [PMID: 22939636]. Mutations in RTTN have been identified in individuals with polymicrogyria, a malformation of the developing cerebral cortex [PMID: 22939636].

GO terms

Biological Process

GO:0044782 cilium organization

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0005813 centrosome
GO:0036064 ciliary basal body

Contributing signatures

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