DISEASES

Disease-gene associations mined from literature

Literature associating RAB3A and Parkinson's disease 2

RAB3A [ENSP00000222256]

Ras-related protein Rab-3A; 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 . 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). ECO:0000269|PubMed:22248876, ECO:0000269|PubMed:27325790,

Synonyms:  RAB3A,  RAB3Ap,  hRAB3A,  A0A024R7I7,  M0R257 ...

Linkouts:  STRING  Pharos  UniProt  OMIM