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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Rab-3-interacting molecule 1; Rab-3-interacting protein 1; Rab3 effector; Rab3 interacting protein 1; rab3-interacting molecule 1; rab3-interacting protein 1; regulating synaptic membrane exocytosis 1 beta; Regulating synaptic membrane exocytosis protein 1; RIM 1; Rim1b protein; synaptic exocytosis regulator 1
基因别名: C030033M19Rik; Kiaa0340; mKIAA0340; Rab3ip1; Rim; RIM1; RIM1a; RIM1alpha; Rims1; Serg1
UniProt ID: (Mouse) Q99NE5, (Rat) Q9JIR4
Entrez Gene ID: (Mouse) 116837, (Rat) 84556