Aliases for RIMS1 Gene
External Ids for RIMS1 Gene
Previous HGNC Symbols for RIMS1 Gene
Previous GeneCards Identifiers for RIMS1 Gene
The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
GeneCards Summary for RIMS1 Gene
RIMS1 (Regulating Synaptic Membrane Exocytosis 1) is a Protein Coding gene. Diseases associated with RIMS1 include Cone-Rod Dystrophy 7 and Cone-Rod Dystrophy 2. Among its related pathways are GABAergic synapse and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is RIMS2.
UniProtKB/Swiss-Prot Summary for RIMS1 Gene
Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003).