GAS8

This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene.

Full Name

Growth Arrest Specific 8

Function

Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity).

Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056).

Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity).

Biological Process

Axoneme assembly Source: UniProtKB
Cellular protein localization Source: GO_Central
Cilium movement involved in cell motility Source: GO_Central
Flagellated sperm motility Source: UniProtKB
Negative regulation of cell population proliferation Source: ProtInc
Positive regulation of protein localization to cilium Source: UniProtKB
Positive regulation of smoothened signaling pathway Source: UniProtKB
Regulation of microtubule binding Source: UniProtKB

Cellular Location

Cytoskeleton; Cilium axoneme; Cilium basal body; Flagellum axoneme; Golgi apparatus; Cytoplasm; Flagellum; Cilium. Associates with microtubules (PubMed:10969087). Localized to the cytoplasm of round spermatids, the tails of elongating spermatids, and mature spermatid tail bundles protruding into the lumen, and in the flagellum of epididymal spermatozoa (By similarity).

Involvement in disease

Ciliary dyskinesia, primary, 33 (CILD33):
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive.