Family

Protein fantom (RPGRIP1L) (IPR031136)

Short name: RPGRIP1L

Family relationships

Description

The human RPGRIP1L gene is one of the causal genes in Meckel and Joubert type B syndromes, two autosomal-recessive multisystem ciliopathies [PMID: 17558409]. RPGRIP1L (also called MKS5, NPHP-8, and for the mouse gene, Ftm, Fantom) is required from developmental processes such as the establishment of left-right asymmetry and patterning of the neural tube and the limbs [PMID: 17553904], and ventricular septal development [PMID: 23469020]. The protein is mainly found at the ciliary transition zone, where it forms a complex with nephrocystin-1 and nephrocystin-4 [PMID: 16339905, PMID: 21565611]. RPGRIP1L is essential for hair follicle morphogenesis [PMID: 25398052] and for planar cell polarity In the mouse cochlea and in the zebrafish floor plate [PMID: 22927466].

GO terms

Biological Process

GO:0032502 developmental process
GO:0001736 establishment of planar polarity

Molecular Function

No terms assigned in this category.

Cellular Component

No terms assigned in this category.

Contributing signatures

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