In mice, RNAi knockdown of Ahi1 expression led to impairments in ciliogenesis.
In Ahi1-knockdown cells, Rab8a was destabilized and did not properly localize to the basal body.
18636121, images] [Full Text]" pmid="18636121"Hsiao et al.
AHI1 is a component of a protein complex in the basal body, a ring-like structure that functions in the transition zone at the base of cilia. Full-length human AHI1 contains at least 1,187 amino acids.
This complex acts as a barrier to restrict protein diffusion between plasma and ciliary membranes (Chih et al., 2012). Both the rodent and human proteins have 7 WD40 repeats and an SH3 domain, but human AHI1 contains an N-terminal coiled-coil domain not found in the rodent proteins.
(2013) found that AHI1 interacted with NPHP1 (607100) and with HAP1.
Gel filtration followed by Western blot analysis confirmed the interactions and suggested that AHI1 and NPHP1 form heterodimers of about 210 k D and heterotetramers of about 430 k D.