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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RIMS1
regulating synaptic membrane exocytosis 1
Chromosome 6 Β· 6q13
NCBI Gene: 22999Ensembl: ENSG00000079841.20HGNC: HGNC:17282UniProt: B7Z7W2
62PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
acrosomal vesicle exocytosisprotein-containing complex assemblypositive regulation of dendrite extensionprotein bindingCone rod dystrophyRod-cone dystrophycone-rod dystrophyalcohol drinking
✦AI Summary

RIMS1 (regulating synaptic membrane exocytosis 1) is a Rab effector protein functioning as a scaffold at the presynaptic active zone 1. It regulates neurotransmitter release probability and short-term synaptic plasticity through synaptic vesicle priming and docking 2. RIMS1 also influences dendrite formation in melanocytes and cognitive function through adipose tissue-brain axis signaling 3. Mechanistically, RIMS1 localizes to the presynaptic active zone cytoplasm and plasma membrane, where it coordinates synaptic vesicle exocytosis via small GTPase binding and protein complex assembly 1. In Drosophila, RIMS1 upregulation enhanced cognitive abilities, suggesting conserved roles in learning 3. Disease relevance is substantial and diverse. RIMS1 truncating mutations show maternal transmission bias in autism families, creating a sensitized genetic background 4. RIMS1 dysfunction associates with pediatric venous thromboembolism through rare coding variants 5. In glioblastoma, lower RIMS1 expression correlates with poorer survival and reduced immune infiltration 6. Notably, RIMS1 DNA methylation levels predict gastric cancer risk post-H. pylori eradication, with highest methylation showing 7.7-fold increased incidence 7. Clinically, a recent study identified astrocytic RIMS1 as a risk-increasing target for migraine pathogenesis through cell-type-specific analysis 1, establishing RIMS1 as a potential therapeutic target for neurological and malignant disorders.

Sources cited
1
RIMS1 carries inherited truncating mutations with maternal transmission bias in autism families
PMID: 25961944
2
RIMS1 DNA methylation levels predict gastric cancer risk, with highest quartile showing 7.7-fold increased incidence
PMID: 40240063
3
Astrocytic RIMS1 is a risk-increasing target for migraine through cell-type-specific regulatory architecture
PMID: 41345547
4
RIMS1 upregulation in Drosophila fat body enhances cognitive abilities through adipose-brain axis
PMID: 37566655
5
Rare RIMS1 coding variants contribute to pediatric venous thromboembolism susceptibility
PMID: 28011674
6
Lower RIMS1 expression associates with poorer glioblastoma survival and reduced immune cell infiltration
PMID: 40307326
7
RIMS1 orthologue impacts GABAergic neuron remodeling and experience-dependent circuit plasticity in C. elegans
PMID: 40795403
Disease Associationsβ“˜20
Cone rod dystrophyOpen Targets
0.45Moderate
Rod-cone dystrophyOpen Targets
0.37Weak
cone-rod dystrophyOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.35Weak
Gyrate atrophy of choroid and retinaOpen Targets
0.34Weak
ornithine aminotransferase deficiencyOpen Targets
0.34Weak
diabetic ketoacidosisOpen Targets
0.32Weak
secondary malignant neoplasmOpen Targets
0.31Weak
portal hypertensionOpen Targets
0.29Weak
autism spectrum disorderOpen Targets
0.28Weak
chronic laryngitisOpen Targets
0.28Weak
obesityOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.26Weak
Alzheimer diseaseOpen Targets
0.26Weak
adolescent idiopathic scoliosisOpen Targets
0.23Weak
migraine disorderOpen Targets
0.23Weak
Parkinson diseaseOpen Targets
0.23Weak
Retinal dystrophyOpen Targets
0.19Weak
connective tissue diseaseOpen Targets
0.19Weak
cone-rod dystrophy, dominantOpen Targets
0.18Weak
Pathogenic Variants2
NM_014989.7(RIMS1):c.1679-20550G>ALikely pathogenic
Autism spectrum disorder
β˜…β˜†β˜†β˜†
NM_014989.7(RIMS1):c.2770+2T>CLikely pathogenic
Cone-rod dystrophy 7
β˜†β˜†β˜†β˜†2020
View on ClinVar β†—
Related Genes
SNAP25Protein interaction100%PPFIA2Protein interaction100%PPFIA3Protein interaction100%TSPOAP1Protein interaction100%SLC17A7Protein interaction100%ERC1Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Heart
4%
Lung
2%
Ovary
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
RIMS1SNAP25PPFIA2PPFIA3TSPOAP1SLC17A7ERC1
PROTEIN STRUCTURE
Preparing viewer…
PDB2CSS Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.50Moderately Constrained
pLIβ“˜
0.95Intolerant
Observed/Expected LoF0.38 [0.29–0.50]
RankingsWhere RIMS1 stands among ~20K protein-coding genes
  • #7,503of 20,598
    Most Researched62
  • #4,401of 5,498
    Most Pathogenic Variants2
  • #2,954of 17,882
    Most Constrained (LOEUF)0.50 Β· top quartile
Genes detectedRIMS1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Excess of rare, inherited truncating mutations in autism.
PMID: 25961944
Nat Genet Β· 2015
1.00
2
Precision risk stratification of primary gastric cancer after eradication of
PMID: 40240063
Gut Β· 2025
0.90
3
Mapping the brain cell-specific regulatory architecture of migraine: a single-cell causal framework nominating inhibitory-neuronal BTBD16 and astrocytic RIMS1 as therapeutic targets.
PMID: 41345547
J Headache Pain Β· 2025
0.80
4
Adipose tissue coregulates cognitive function.
PMID: 37566655
Sci Adv Β· 2023
0.70
5
Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.
PMID: 28011674
Blood Β· 2017
0.60