|Other Names||Regulating synaptic membrane exocytosis protein 1, Rab-3-interacting molecule 1, RIM 1, Rab-3-interacting protein 2, RIMS1, KIAA0340, RAB3IP2, RIM1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||KIAA0340, RAB3IP2, RIM1|
|Function||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).|
|Cellular Location||Cell membrane; Peripheral membrane protein. Cell junction, synapse. Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein|
|Tissue Location||Expressed in melanocytes (PubMed:23999003). Detected in brain and retina (PubMed:23999003)|
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The protein encoded by this gene is a RAS gene superfamilymember that regulates synaptic vesicle exocytosis. The encodedprotein may be part of the protein scaffold of the cell. Defects inthis gene are a cause of cone-rod dystrophy type 7 (CORD7). Severaltranscript variants encoding different isoforms have been found forthis gene.
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Cirulli, E.T., et al. Eur. J. Hum. Genet. 18(7):815-820(2010)Trynka, G., et al. Gut 58(8):1078-1083(2009)Need, A.C., et al. Eur. J. Hum. Genet. 17(7):946-957(2009)Wu, C., et al. Proteomics 7(11):1775-1785(2007)
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