RIMS1 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | RIMS1 |
| Official Name | regulating synaptic membrane exocytosis 1 [Source:HGNC Symbol;Acc:HGNC:17282] |
| Ensembl ID | ENSG00000079841 |
| Bio databases IDs | |
| Aliases | regulating synaptic membrane exocytosis 1, Rab3-interacting molecule |
| Synonyms | AC174648.1, C030033M19RIK, CORD7, Rab3ip1, RAB3IP2, regulating synaptic membrane exocytosis 1, RIM, RIM1, RIM1a, Rim1alpha, Serg1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RIMS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- GTPase regulator
- protein kinase binding
- canonical PDZ domain
- enzyme binding
- BRcat_Rcat_RBR
- protein binding
- PDZ domain
- SH3-domain binding
- Rab binding domain
- ion channel binding
- PHD finger superfamily
- zinc finger domain
- structural molecule
- Protein kinase C conserved region 2 (CalB)
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pervasive developmental disorder
- angioedema
- Alzheimer disease
- bipolar disorder
- COVID-19
- seizures
- global developmental delay with intellectual disability
- astrocytosis
- urticaria
- peripheral arterial disease
role in cell
- quantity
- number
- morphology
- expression in
- extension
- neurotransmission
- release
- loss
- synaptic transmission
- long-term potentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cytosolic synaptosomal fraction
- synaptic plasma membrane fractions
- detergent-insoluble fractions
- membrane fraction
- presynaptic active zone
- glutaminergic synapse
- Cytoplasm
- cellular membrane
- Nucleus
- vesicles
- cytoplasmic aggregates
- cytosol
- presynaptic membrane
- synaptosomes
- synapse
- postsynaptic density
- presynaptic terminals
- ribbon synapse
- detergent-soluble fraction
- synaptosomal fractions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RIMS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of neurotransmitter secretion
- secretion
- membrane fusion
- macromolecular complex assembly
- positive regulation of synaptic transmission
- positive regulation of inhibitory postsynaptic membrane potential
- visual perception
- intracellular protein transport
- acrosomal vesicle exocytosis
- calcium ion-dependent exocytosis of neurotransmitter
- regulation of membrane potential
- positive regulation of gene expression
- regulation of synaptic plasticity
- regulated secretory pathway
- regulation of synaptic vesicle exocytosis
- cell differentiation
- positive regulation of excitatory postsynaptic membrane potential
- calcium ion-dependent exocytosis
- synaptic vesicle exocytosis
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- presynaptic active zone
- cytosol
- presynaptic cytoskeletal matrix assembled at active zones
- cell projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- RNA binding
- protein binding
- metal ion binding
- small GTPase binding
- GTPase regulator activity
- ion channel binding