Aliases for RAB5A Gene
External Ids for RAB5A Gene
Previous HGNC Symbols for RAB5A Gene
Previous GeneCards Identifiers for RAB5A Gene
GeneCards Summary for RAB5A Gene
RAB5A (RAB5A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB5A include Amyotrophic Lateral Sclerosis Type 2 and Spinocerebellar Ataxia 11. Among its related pathways are Platelet activation, signaling and aggregation and Vasopressin-regulated water reabsorption. GO annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB5C.
UniProtKB/Swiss-Prot for RAB5A Gene
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes (PubMed:10818110, PubMed:14617813, PubMed:16410077, PubMed:15378032). Contributes to the regulation of filopodia extension (PubMed:14978216). Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (PubMed:22660413). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (By similarity).