RIMS3: Regulating Synaptic Membrane Exocytosis 3
Key presynaptic protein in neurotransmitter release and calcium sensing
Gene Information Card
| Symbol | RIMS3 |
|---|---|
| Full Name | regulating synaptic membrane exocytosis 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 9783 ncbi.nlm.nih.gov/gene/9783 |
| Ensembl ID | ENSG00000117020 |
| UniProt ID | Q9UPD3 |
| OMIM ID | 611242 |
| HGNC ID | 21299 |
| Aliases | NIM3, RIM3 |
Description
RIMS3 (regulating synaptic membrane exocytosis 3) encodes a member of the RIM (Rab3-interacting molecule) family of presynaptic proteins. The protein localizes to the active zone of presynaptic terminals and is involved in synaptic vesicle docking, priming, and calcium-dependent exocytosis. It interacts with Rab3 and other active zone components to regulate neurotransmitter release.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered RIMS3 expression may disrupt synaptic vesicle release and neurotransmission, contributing to disease pathophysiology. | Association studies (PMID: 20468064) |
| Bipolar disorder | Genetic variants in RIMS3 have been linked to altered synaptic function and mood regulation. | GWAS (PMID: 21926972) |
| Autism spectrum disorder | Rare variants in RIMS3 may affect synaptic plasticity and social behavior. | Exome sequencing studies (PMID: 22495306) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 15.2 | High |
| Brain (cerebellum) | 12.8 | High |
| Brain (hippocampus) | 14.1 | High |
| Testis | 2.3 | Low |
| Pancreas | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.5 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial model |
| HEK293 (embryonic kidney) | 0.8 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42Cys) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Glu153Lys) | Missense | 0.005% (gnomAD) | Predicted damaging (SIFT) |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein likely impair synaptic vesicle docking and exocytosis.
Gain of Function (GOF)
No gain-of-function mutations reported in RIMS3.
Dominant Negative (DN)
No dominant-negative mutations reported in RIMS3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-112310)
• Neurotransmitter release cycle (Reactome: R-HSA-112315)
• Rab3-RIM pathway (KEGG: hsa04721)
Protein Summary
RIMS3 is a 1,200-amino-acid presynaptic protein that contains an N-terminal Rab3-binding domain, a central PDZ domain, and C-terminal C2 domains that bind calcium. It tethers synaptic vesicles to the active zone and facilitates calcium-triggered exocytosis. The protein is highly expressed in brain regions critical for learning, memory, and mood regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIMS3 Knockout HEK293 Cell Line | EDJ-KQ6747 | Human | 9783 | Details Get a Quote |
| RIMS3 Knockout A-549 Cell Line | EDJ-KQ31159 | Human | 9783 | Details Get a Quote |
| RIMS3 Knockout HCT 116 Cell Line | EDJ-KQ31160 | Human | 9783 | Details Get a Quote |
