RAB11A
Description
The RAB11A (RAB11A, member RAS oncogene family) is a protein-coding gene located on chromosome 15.
RAB11A is a human gene that encodes the Ras-related protein Rab-11A. This protein belongs to the small GTPase superfamily, specifically the Rab family. It plays a role in both constitutive and regulated secretory pathways, and is involved in protein transport.
RAB11A, also known as Rab-11, is a small GTPase that plays a crucial role in regulating intracellular membrane trafficking. It acts as a molecular switch, cycling between an inactive GDP-bound form and an active GTP-bound form. This switch controls the recruitment of various downstream effectors responsible for vesicle formation, movement, tethering, and fusion. Specifically, RAB11A regulates endocytic recycling by forming a complex with FIP3 and dynein, which facilitates the movement of sorting endosomes along microtubules towards the centrosome, generating the endosomal recycling compartment. RAB11A is also involved in membrane delivery during cytokinesis, epithelial cell polarization, and the transcytosis of PODXL to the apical membrane. It participates in CFTR trafficking and transferrin recycling, and is essential for the transport of NPC1L1 to the plasma membrane. Moreover, RAB11A plays a role in sorting and basolateral transport of CDH1, recycling of FCGRT, melanosome transport, and ciliogenesis initiation. However, upon LPAR1 receptor signaling, its interaction with phosphorylated WDR44 prevents cilia growth. RAB11A also participates in the export of neosynthesized proteins via a Rab8-Rab10-Rab11-endososomal dependent route. It interacts with various proteins, including RAB11FIP5, STXBP6, SGSM1, SGSM2, SGSM3, EXOC6, RAB11FIP1, RAB11FIP2, RAB11FIP3, RAB11FIP4, DYNC1LI1, EVI5, VIPAS39, MYO5B, NPC1L1, ZFYVE27, BIRC6/bruce, TBC1D14, UNC119, SH3BP5, KIF5A, RELCH, TBC1D12, DEF6, VPS33B, and ATP9A. It forms complexes with RAB11FIP3, Rabin8/RAB3IP, ASAP1, ARF4, and RHO, playing crucial roles in various cellular processes.
RAB11A is also known as YL8.
Associated Diseases
- autosomal dominant non-syndromic intellectual disability
- microcephaly
- intellectual disability, autosomal dominant 56
