RAB5A
Description
The RAB5A (RAB5A, member RAS oncogene family) is a protein-coding gene located on chromosome 3.
RAB5A is a protein encoded by the RAB5A gene in humans. It localizes to early endosomes and plays a crucial role in their maturation. RAB5A facilitates the recruitment of RAB7A and the transition of early endosomes into mature compartments. It drives this maturation process by transporting vacuolar (H+)-ATPases (V-ATPases) from the trans-Golgi network to endocytic vesicles.
RAB5A is a small GTPase that cycles between active GTP-bound and inactive GDP-bound states. When active, it binds to various effector proteins to regulate cellular processes, particularly intracellular membrane trafficking. This includes the formation of transport vesicles and their fusion with membranes. RAB5A plays a critical role in the fusion of plasma membranes and early endosomes. It also contributes to the regulation of filopodia extension and is necessary for the exosomal release of specific proteins like SDCBP, CD63, PDCD6IP, and syndecan. Additionally, RAB5A regulates the maturation of phagosomes that engulf apoptotic cells, likely downstream of DYN2 and PIK3C3.
RAB5A is also known as RAB5.
Associated Diseases
- tuberculosis
- cancer
- psychiatric disorder
- dehydrated hereditary stomatocytosis
- familial pseudohyperkalemia
- hemoglobin D disease
- retinitis pigmentosa and erythrocytic microcytosis
- pachyonychia congenita
