Molecular adapter that recruits protein complexes required for cilium assembly and function to the cilium basal body ( , ). At the exit of mitosis, localizes to the basal body and ciliary base of the forming primary cilium where it recruits and activates RAB8A to direct vesicle-mediated transport of proteins to the cilium (By similarity). Also recruits the BBSome, a complex involved in cilium biogenesis, by bridging it to PCM1 at the centriolar satellites of the cilium . It is also required for the recruitment to the cilium basal body of the intraflagellar transport (IFT) machinery as well as the ciliary appendage proteins CEP164 and NINEIN (By similarity). Functions as a regulator of Hedgehog signaling both through its role in cilium assembly but also probably through its ability to retain GLI3 within the cytoplasm (By similarity). It is involved in spermatogenesis through its role in organization of the basal body and assembly of the sperm flagellum . Also indirectly involved in heart development through its function in ciliogenesis .
Subcellular locations: Cytoplasm, Cytoskeleton, Cilium basal body, Cytoplasm, Cytoskeleton, Microtubule organizing center, Centrosome, Centriolar satellite, Cytoplasm, Cytoskeleton, Microtubule organizing center, Centrosome, Centriole, Nucleus, Nucleus speckle, Cytoplasm
Localizes to the centriole in cells lacking cilia and to the cilium basal body in ciliated cells . At the exit of mitosis, when the primary cilium is reassembled in daughter cells, localizes at the mother centriole that acts as the basal body of the assembling primary cilium and also accumulates at the ciliary base that constitutes a diffusion barrier for ciliary proteins (By similarity).
Predominantly expressed in testis (at protein level) (, ). Also expressed in fetal brain, adult oocytes and ovary . Expressed in undifferentiated ES cells . In testis, it is specifically expressed in germ cells (at protein level) (, ). Expressed in mature germ cells and secondary spermatocytes, while it is weakly or not expressed in primary spermatocytes .