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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191561682009Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.46
128719462003Rim, a component of the presynaptic active zone and modulator of exocytosis, binds 14-3-3 through its N terminus.17
222488762012RIM, Munc13, and Rab3A interplay in acrosomal exocytosis.14
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
214027062011Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release.11
172371232007Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.10
213317612011Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels.9
157465642005Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa.5

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