Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
RIMS1 regulating synaptic membrane exocytosis 1	RIM , RIM1 , CORD7 , RAB3IP2	Homo sapiens	42	protein-coding	RIMS3 , RIMS2		606629

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]

GeneOntology

Function (1)

Go ID	Value	Evidence
0030695	enables GTPase regulator activity	TAS

Component (8)

Go ID	Value	Evidence
0042995	located_in cell projection	IEA
0005829	located_in cytosol	TAS
0005886	located_in plasma membrane	ISS
0048786	located_in presynaptic active zone	TAS
0098831	is_active_in presynaptic active zone cytoplasmic component	IBA
0042734	is_active_in presynaptic membrane	IBA
0042734	located_in presynaptic membrane	ISS
0042734	located_in presynaptic membrane	NAS

Process (18)

Go ID	Value	Evidence
0060478	involved_in acrosomal vesicle exocytosis	IDA
0017156	involved_in calcium-ion regulated exocytosis	TAS
0030154	involved_in cell differentiation	IEA
0006886	involved_in intracellular protein transport	IEA
0061025	involved_in membrane fusion	NAS
1903861	involved_in positive regulation of dendrite extension	IDA
2000463	involved_in positive regulation of excitatory postsynaptic potential	ISS
0010628	involved_in positive regulation of gene expression	ISS
0097151	involved_in positive regulation of inhibitory postsynaptic potential	ISS
0065003	involved_in protein-containing complex assembly	IDA
0045055	involved_in regulated exocytosis	NAS
0046928	involved_in regulation of neurotransmitter secretion	TAS
2000300	involved_in regulation of synaptic vesicle exocytosis	IBA
0046903	involved_in secretion	NAS
0016081	involved_in synaptic vesicle docking	IBA
0016079	involved_in synaptic vesicle exocytosis	TAS
0016082	involved_in synaptic vesicle priming	IBA
0007601	involved_in visual perception	IEA

Gene Loss events - RIMS1 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_SGJHO0	Chrysochloris asiatica	Afrosoricida	LOF (frameshift, premature stop, ss)	Full	No	10.1093/icb/icy004