RIMS1 (regulating synaptic membrane exocytosis 1)

2012-11-01  

Identity

HGNC
RIMS1
LOCATION
6q13
LOCUSID
22999
ALIAS
CORD7,RAB3IP2,RIM,RIM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22999
MIM: 606629
HGNC: 17282
Ensembl: ENSG00000079841

Variants:

dbSNP: 22999
ClinVar: 22999
TCGA: ENSG00000079841
COSMIC: RIMS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000079841ENST00000264839Q86UR5
ENSG00000079841ENST00000370420A0A0C4DFV1
ENSG00000079841ENST00000401910Q86UR5
ENSG00000079841ENST00000414192Q86UR5
ENSG00000079841ENST00000425662Q86UR5
ENSG00000079841ENST00000453976E5RGM0
ENSG00000079841ENST00000491071Q86UR5
ENSG00000079841ENST00000517433H0YBU6
ENSG00000079841ENST00000517827Q86UR5
ENSG00000079841ENST00000517960Q86UR5
ENSG00000079841ENST00000518273Q86UR5
ENSG00000079841ENST00000520567Q86UR5
ENSG00000079841ENST00000521978Q86UR5
ENSG00000079841ENST00000522211H0YBE7
ENSG00000079841ENST00000522291Q86UR5
ENSG00000079841ENST00000523963Q86UR5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Retrograde endocannabinoid signalingKEGGhsa04723
Retrograde endocannabinoid signalingKEGGko04723
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Norepinephrine Neurotransmitter Release CycleREACTOMER-HSA-181430
Serotonin Neurotransmitter Release CycleREACTOMER-HSA-181429
Glutamate Neurotransmitter Release CycleREACTOMER-HSA-210500
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Acetylcholine Neurotransmitter Release CycleREACTOMER-HSA-264642
GABA synthesis, release, reuptake and degradationREACTOMER-HSA-888590

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
271768722017Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.4
280116742017Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.8
283775032017C-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
271768722017Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.4
280116742017Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.8
283775032017C-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
222488762012RIM, Munc13, and Rab3A interplay in acrosomal exocytosis.19
222488762012RIM, Munc13, and Rab3A interplay in acrosomal exocytosis.19
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.12
213317612011Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels.11
214027062011Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release.14
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.12
213317612011Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels.11
214027062011Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release.14
203796142010Personalized 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