Rims1 is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. Rims1 also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations in the Rims1 gene have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Further, Rims1 may act as scaffold protein that regulates neurotransmitter release at the active zone. Rims1 may also be essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity. Rims1 also plays a role in dendrite formation by melanocytes. Multiple transcript variants encoding different isoforms have been described for this Rims1. Diseases associated with RIMS1 include Cone-Rod Dystrophy 7 and Retinitis Pigmentosa.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Rab-3-interacting molecule 1; Rab-3-interacting protein 1; Rab-3-interacting protein 2; Rab3 effector; Rab3 interacting protein 1; rab3-interacting molecule 1; rab3-interacting protein 1; RAB3-interacting protein 2; regulating synaptic membrane exocytosis 1 beta; Regulating synaptic membrane exocytosis protein 1; RIM 1; Rim1b protein; synaptic exocytosis regulator 1
Gene Aliases: C030033M19Rik; CORD7; KIAA0340; mKIAA0340; Nbla00761; Rab3ip1; RAB3IP2; RIM; RIM1; RIM1a; RIM1alpha; RIMS1; Serg1