RIMBP3C: RIMS Binding Protein 3C
A member of the RIMBP family involved in synaptic vesicle release and calcium channel regulation
Gene Information Card
| Symbol | RIMBP3C |
|---|---|
| Full Name | RIMS Binding Protein 3C |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 140688 ncbi.nlm.nih.gov/gene/140688 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | Q9H1K1 |
| OMIM ID | 611879 |
| HGNC ID | 26762 |
| Aliases | RIM-BP3, RIMBP3, KIAA1627 |
Description
RIMBP3C (RIMS Binding Protein 3C) encodes a member of the RIM-binding protein family. These proteins interact with RIM (Rab3-interacting molecule) and voltage-gated calcium channels, playing a crucial role in neurotransmitter release and synaptic vesicle docking/priming. The gene is located on chromosome 22q11.21, a region associated with DiGeorge syndrome and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered synaptic vesicle release due to RIMBP3C dysregulation | GWAS association (PMID: 25056061) |
| Bipolar disorder | Potential disruption of calcium channel coupling | Genetic association study (PMID: 21926972) |
| 22q11.2 deletion syndrome | Haploinsufficiency of RIMBP3C may contribute to neuropsychiatric phenotypes | Observational (OMIM #188400) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain - cortex | 8.2 | Medium |
| Testis | 4.5 | Low |
| Adrenal gland | 3.1 | Low |
| Pituitary | 2.8 | Low |
| Cerebellum | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 5.3 | Neuronal model |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
| U-87 MG (glioblastoma) | 4.0 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, likely loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (p.Arg412*, p.Trp189*) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle membrane (GO:0030672) | • neurotransmitter secretion (GO:0007269) |
| • voltage-gated calcium channel activity (GO:0005244) | • syntaxin binding (GO:0019905) |
| • synapse (GO:0045202) |
Pathways
• Synaptic vesicle cycle (Reactome R-HSA-112315)
• Neurotransmitter release (Reactome R-HSA-210500)
• Voltage-gated calcium channel regulation (Reactome R-HSA-5576892)
Protein Summary
RIMBP3C is a 1,453-amino acid protein containing SH3 domains and fibronectin type III repeats. It localizes to presynaptic active zones, where it binds RIM proteins and voltage-gated calcium channels (Cav2.1, Cav2.2). This interaction is essential for efficient neurotransmitter release by tethering calcium channels to synaptic vesicles. The protein is predominantly expressed in brain tissues, with moderate levels in cortex and cerebellum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIMBP3C Knockout HEK293 Cell Line | EDJ-KQ52037 | Human | 150221 | Details Get a Quote |
| RIMBP3C Knockout HeLa Cell Line | EDJ-KQ58652 | Human | 150221 | Details Get a Quote |
| RIMBP3C Knockout A-549 Cell Line | EDJ-KQ67133 | Human | 150221 | Details Get a Quote |
| RIMBP3C Knockout HCT 116 Cell Line | EDJ-KQ75539 | Human | 150221 | Details Get a Quote |
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