ARL6
Description
The ARL6 (ADP ribosylation factor like GTPase 6) is a protein-coding gene located on chromosome 3.
ADP-ribosylation factor-like protein 6 (ARL6) is a protein encoded by the ARL6 gene in humans. It belongs to the ARF family of GTP-binding proteins, which are key regulators of cellular traffic. ARL6, like other ARF proteins, possesses a unique structural feature that enables communication between its N-terminus and the nucleotide-binding site. Studies on the mouse ortholog of ARL6 suggest its involvement in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Alternative splicing occurs at the ARL6 locus, resulting in two transcript variants that encode the same protein.
ARL6 plays a crucial role in membrane protein trafficking at the base of the ciliary organelle. It facilitates the recruitment of the BBSome complex onto the plasma membrane, acting as a coat complex for sorting specific membrane proteins to the primary cilia. ARL6, in collaboration with BBS1, ensures the correct trafficking of PKD1 to primary cilia. Working in conjunction with the BBSome complex and LTZL1, ARL6 regulates SMO ciliary trafficking, contributing to the regulation of the sonic hedgehog (SHH) pathway. Additionally, ARL6 may regulate cilia assembly and disassembly, impacting subsequent ciliary signaling events, including the Wnt signaling cascade. Isoform 2 of ARL6 is thought to be essential for proper retinal function and organization.
ARL6 is also known as BBS3, RP55.
Associated Diseases
- Retinitis pigmentosa
- Bardet-Biedl syndrome 3
- Retinitis pigmentosa 55
- Bardet-Biedl syndrome 1
- Bardet-Biedl syndrome
