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 Motor Neuron Disease and Choroideremia. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Development HGF signaling pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB5C.
UniProtKB/Swiss-Prot Summary for RAB5A Gene
Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Active GTP-bound form 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).