RAB10 Gene - Function, Mutations, and Disease Associations | NCBI, UniProt, OMIM

RAB10 is a small GTPase of the Rab family that regulates intracellular membrane trafficking, including endocytosis, exocytosis, and recycling of receptors and transporters. It is particularly important for insulin-stimulated translocation of GLUT4 to the plasma membrane in adipocytes and muscle cells, thereby controlling glucose uptake. RAB10 also participates in ciliogenesis, autophagy, and neuronal vesicle transport. Dysregulation of RAB10 has been implicated in type 2 diabetes, cancer, and neurodegenerative disorders such as Alzheimer's disease.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Insulin signaling pathway (Reactome: R-HSA-2980736)

• GLUT4 translocation to the plasma membrane (Reactome: R-HSA-1445148)

• Membrane trafficking (Reactome: R-HSA-199991)

• Endosomal recycling (Reactome: R-HSA-432722)

• Cargo recognition for clathrin-mediated endocytosis (Reactome: R-HSA-8856825)

RAB10 is a 200-amino-acid small GTPase (UniProt P61026) that cycles between an active GTP-bound and inactive GDP-bound state. It localizes to endosomes, the Golgi apparatus, and the plasma membrane, where it regulates vesicle budding, motility, and fusion. In adipocytes and muscle cells, RAB10 is essential for insulin-stimulated GLUT4 translocation. It also controls ciliary membrane elongation and neuronal endosomal trafficking. Post-translational prenylation at the C-terminal CAAX motif (Cys-197) is required for membrane association. RAB10 interacts with effectors such as MICAL-L1, EHBP1, and OCRL1 to coordinate cargo sorting and recycling.