RIMS1, Official Symbol RIMS1provided by HGNC Official Full Name regulating synaptic membrane exocytosis 1provided by HGNC Primary source HGNC:HGNC:17282 See related Ensembl:ENSG00000079841 MIM:606629; AllianceGenome:HGNC:17282 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RIM; RIM1; CORD7; RAB3IP2 Summary 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] Expression Biased expression in brain (RPKM 5.2), testis (RPKM 1.0) and 4 other tissues See more Orthologs mouse all