RIMS1 Gene
Regulating Synaptic Membrane Exocytosis 1
Gene Information Card
| Symbol | RIMS1 |
|---|---|
| Full Name | Regulating Synaptic Membrane Exocytosis 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q13 |
| NCBI Gene ID | 22999 ncbi.nlm.nih.gov/gene/22999 |
| Ensembl ID | ENSG00000189159 |
| UniProt ID | Q86UR5 |
| OMIM ID | 606629 |
| HGNC ID | 17282 |
| Aliases | RIM1, RAB3IP2, RAB3-interacting protein 2 |
Description
RIMS1 encodes a protein that acts as a scaffold at the presynaptic active zone, regulating synaptic vesicle exocytosis and neurotransmitter release. It interacts with RAB3 and other synaptic proteins to control calcium-dependent vesicle fusion. Mutations in RIMS1 are associated with retinal degeneration and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 7 (RP7) | Missense mutations in RIMS1 disrupt synaptic ribbon function in photoreceptors, impairing neurotransmitter release and leading to progressive retinal degeneration. | OMIM #609502; ClinVar |
| Autism spectrum disorder (ASD) | Rare copy number variants and missense variants in RIMS1 may alter synaptic transmission, contributing to ASD susceptibility. | ClinVar; PubMed studies |
| Bipolar disorder | Association studies suggest RIMS1 variants influence synaptic plasticity and mood regulation pathways. | OMIM; GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Retina | 8.3 | Medium |
| Testis | 4.1 | Low |
| Pancreas | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 6.8 | Neuronal model |
| HEK293 | 1.2 | Low endogenous expression |
| ARPE-19 (retinal) | 5.5 | Retinal pigment epithelium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2450G>A (p.Arg817His) | Missense | <0.01% | Alters RAB3 binding; associated with RP7 |
| c.3196C>T (p.Arg1066Trp) | Missense | <0.01% | Disrupts active zone localization; linked to ASD |
| c.1234delC | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations reduce RIMS1 protein levels, impairing synaptic vesicle docking and fusion.
Gain of Function (GOF)
Not well characterized; some missense variants may enhance RAB3 interaction but evidence is limited.
Dominant Negative (DN)
Missense mutations in the C2 domains may interfere with wild-type RIMS1 function, contributing to dominant inheritance in RP7.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome R-HSA-112315)
• Neurotransmitter release cycle (Reactome R-HSA-112310)
• RAB3-RIMS1 pathway (KEGG hsa04721)
Protein Summary
RIMS1 (RIM1) is a 1,692-amino-acid protein with multiple domains: N-terminal zinc finger, central PDZ domain, and C-terminal C2A and C2B domains. It localizes to the presynaptic active zone, where it tethers synaptic vesicles via RAB3 and modulates calcium channel clustering. The protein is essential for short-term synaptic plasticity and sustained neurotransmitter release. In the retina, RIMS1 is critical for ribbon synapse function in photoreceptors and bipolar cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIMS1 Knockout HEK293 Cell Line | EDJ-KQ3792 | Human | 22999 | Details Get a Quote |
| RIMS1 Knockout HeLa Cell Line | EDJ-KQ25899 | Human | 22999 | Details Get a Quote |
| RIMS1 Knockout A-549 Cell Line | EDJ-KQ64170 | Human | 22999 | Details Get a Quote |
| RIMS1 Knockout HCT 116 Cell Line | EDJ-KQ72613 | Human | 22999 | Details Get a Quote |
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