Aliases for RAB3A Gene
External Ids for RAB3A Gene
Previous GeneCards Identifiers for RAB3A Gene
GeneCards Summary for RAB3A Gene
RAB3A (RAB3A, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB3A include Cone-Rod Dystrophy 7 and Isolated Growth Hormone Deficiency, Type Ii. Among its related pathways are Vesicle-mediated transport and Neurotransmitter Release Cycle. Gene Ontology (GO) annotations related to this gene include GTP binding and protein C-terminus binding. An important paralog of this gene is RAB3C.
UniProtKB/Swiss-Prot Summary for RAB3A Gene
Small GTP-binding protein that plays a central role in regulated exocytosis and secretion. Controls the recruitment, tethering and docking of secretory vesicles to the plasma membrane (By similarity). Upon stimulation, switches to its active GTP-bound form, cycles to vesicles and recruits effectors such as RIMS1, RIMS2, Rabphilin-3A/RPH3A, RPH3AL or SYTL4 to help the docking of vesicules onto the plasma membrane (By similarity). Upon GTP hydrolysis by GTPase-activating protein, dissociates from the vesicle membrane allowing the exocytosis to proceed (By similarity). Stimulates insulin secretion through interaction with RIMS2 or RPH3AL effectors in pancreatic beta cells (By similarity). Regulates calcium-dependent lysosome exocytosis and plasma membrane repair (PMR) via the interaction with 2 effectors, SYTL4 and myosin-9/MYH9 (PubMed:27325790). Acts as a positive regulator of acrosome content secretion in sperm cells by interacting with RIMS1 (PubMed:22248876, PubMed:30599141). Plays also a role in the regulation of dopamine release by interacting with synaptotagmin I/SYT (By similarity).