Identity
HGNC
LOCATION
6q13
LOCUSID
ALIAS
CORD7,RAB3IP2,RIM,RIM1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 22999
MIM: 606629
HGNC: 17282
Ensembl: ENSG00000079841
Variants:
dbSNP: 22999
ClinVar: 22999
TCGA: ENSG00000079841
COSMIC: RIMS1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 27176872 | 2017 | Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. | 4 |
| 28011674 | 2017 | Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism. | 8 |
| 28377503 | 2017 | C-terminal splice variants of P/Q-type Ca(2+) channel Ca(V)2.1 α(1) subunits are differentially regulated by Rab3-interacting molecule proteins. | 11 |
| 27176872 | 2017 | Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. | 4 |
| 28011674 | 2017 | Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism. | 8 |
| 28377503 | 2017 | C-terminal splice variants of P/Q-type Ca(2+) channel Ca(V)2.1 α(1) subunits are differentially regulated by Rab3-interacting molecule proteins. | 11 |
| 22248876 | 2012 | RIM, Munc13, and Rab3A interplay in acrosomal exocytosis. | 19 |
| 22248876 | 2012 | RIM, Munc13, and Rab3A interplay in acrosomal exocytosis. | 19 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 21331761 | 2011 | Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels. | 11 |
| 21402706 | 2011 | Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release. | 14 |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. | 12 |
| 21331761 | 2011 | Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels. | 11 |
| 21402706 | 2011 | Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release. | 14 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
RIMS1 (regulating synaptic membrane exocytosis 1)
Atlas Genet Cytogenet Oncol Haematol. 2012-11-01
Online version: http://atlasgeneticsoncology.org/gene/53037/rims1
