Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22999
Gene name	Regulating synaptic membrane exocytosis 1
Gene symbol	RIMS1
Synonyms (NCBI Gene)	CORD7RAB3IP2RIMRIM1
Chromosome	6
Chromosome location	6q13
Summary	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 sugge

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918302	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs192179523	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant, genic downstream transcript variant
rs200005095	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, intron variant, missense variant
rs201473375	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs201556693	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1057519205	G>A	Likely-pathogenic	Intron variant, genic downstream transcript variant, genic upstream transcript variant, splice donor variant
rs1590681805	T>C	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice donor variant

Show/Hide all (51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT755560	hsa-miR-122-5p	Luciferase reporter assay	38144299
MIRT1306949	hsa-miR-3189-3p	CLIP-seq
MIRT1306950	hsa-miR-3668	CLIP-seq
MIRT1306951	hsa-miR-3924	CLIP-seq
MIRT1306952	hsa-miR-412	CLIP-seq
MIRT1306953	hsa-miR-425	CLIP-seq
MIRT1306954	hsa-miR-502-5p	CLIP-seq
MIRT1306955	hsa-miR-642b	CLIP-seq
MIRT1306956	hsa-miR-140-3p	CLIP-seq
MIRT1306957	hsa-miR-1912	CLIP-seq
MIRT1306958	hsa-miR-197	CLIP-seq
MIRT1306959	hsa-miR-298	CLIP-seq
MIRT1306960	hsa-miR-31	CLIP-seq
MIRT1306961	hsa-miR-3126-3p	CLIP-seq
MIRT1306962	hsa-miR-3128	CLIP-seq
MIRT1306963	hsa-miR-33a	CLIP-seq
MIRT1306964	hsa-miR-33b	CLIP-seq
MIRT1306965	hsa-miR-3617	CLIP-seq
MIRT1306966	hsa-miR-3688-3p	CLIP-seq
MIRT1306967	hsa-miR-376c	CLIP-seq
MIRT1306968	hsa-miR-3944-5p	CLIP-seq
MIRT1306953	hsa-miR-425	CLIP-seq
MIRT1306969	hsa-miR-4499	CLIP-seq
MIRT1306970	hsa-miR-4527	CLIP-seq
MIRT1306971	hsa-miR-4662a-3p	CLIP-seq
MIRT1306972	hsa-miR-4696	CLIP-seq
MIRT1306973	hsa-miR-4720-5p	CLIP-seq
MIRT1306974	hsa-miR-4799-3p	CLIP-seq
MIRT1306975	hsa-miR-5096	CLIP-seq
MIRT1306976	hsa-miR-548c-3p	CLIP-seq
MIRT1306977	hsa-miR-641	CLIP-seq
MIRT1306955	hsa-miR-642b	CLIP-seq
MIRT2315749	hsa-miR-15a	CLIP-seq
MIRT2315750	hsa-miR-15b	CLIP-seq
MIRT2315751	hsa-miR-16	CLIP-seq
MIRT2315752	hsa-miR-181a	CLIP-seq
MIRT2315753	hsa-miR-181b	CLIP-seq
MIRT2315754	hsa-miR-181c	CLIP-seq
MIRT2315755	hsa-miR-181d	CLIP-seq
MIRT2315756	hsa-miR-195	CLIP-seq
MIRT2315757	hsa-miR-424	CLIP-seq
MIRT2315758	hsa-miR-4262	CLIP-seq
MIRT2315759	hsa-miR-4457	CLIP-seq
MIRT2315760	hsa-miR-497	CLIP-seq
MIRT2315761	hsa-miR-513b	CLIP-seq
MIRT2315762	hsa-miR-922	CLIP-seq
MIRT2458242	hsa-miR-1264	CLIP-seq
MIRT2458243	hsa-miR-548n	CLIP-seq
MIRT2458244	hsa-miR-548t	CLIP-seq
MIRT2458245	hsa-miR-617	CLIP-seq
MIRT2458242	hsa-miR-1264	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	11438518, 17474147, 37207277
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	11438518
GO:0016081	Process	Synaptic vesicle docking	IBA
GO:0016082	Process	Synaptic vesicle priming	IBA
GO:0017156	Process	Calcium-ion regulated exocytosis	TAS	11438518
GO:0030154	Process	Cell differentiation	IEA
GO:0030695	Function	GTPase regulator activity	TAS	11438518
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042734	Component	Presynaptic membrane	NAS	11438518
GO:0042995	Component	Cell projection	IEA
GO:0045055	Process	Regulated exocytosis	NAS	11438518
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046903	Process	Secretion	NAS	11438518
GO:0046928	Process	Regulation of neurotransmitter secretion	TAS	15217342
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048786	Component	Presynaptic active zone	TAS	15217342
GO:0048790	Process	Maintenance of presynaptic active zone structure	IEA
GO:0060478	Process	Acrosomal vesicle exocytosis	IDA	22248876
GO:0061025	Process	Membrane fusion	NAS	11438518
GO:0065003	Process	Protein-containing complex assembly	IDA	11438518
GO:0097151	Process	Positive regulation of inhibitory postsynaptic potential	ISS
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IBA
GO:0098882	Function	Structural constituent of presynaptic active zone	IBA
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IBA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

MIM	HGNC	e!Ensembl
606629	17282	ENSG00000079841

Q86UR5

Protein name

Regulating synaptic membrane exocytosis protein 1 (Rab-3-interacting molecule 1) (RIM 1) (Rab-3-interacting protein 2)

Protein function

Rab effector involved in exocytosis (By similarity). May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release duri

PDB

2CSS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02318	FYVE_2	81 → 182	FYVE-type zinc finger	Family
PF00595	PDZ	605 → 689	PDZ domain	Domain
PF00168	C2	757 → 867	C2 domain	Domain
PF00168	C2	1551 → 1658	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). Detected in brain and retina (PubMed:23999003). {ECO:0000269|PubMed:23999003}.

Sequence

MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRD
MAKPAACKTPRNAENQPHQPSPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICH
KTKFADGCGHLCSYCRTKFCARCGGRVSLRSNNEDKVVMWVCNLCRKQQEILTKSGAWFF
GSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTAAASSQDAAPPSAPPD
RSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQP
VEGAVEERERKERRESRRLEKGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPN
LARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEAGAALPEGKAGKRAPAAARAS
PPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSS
AVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVST
PEYTSCEDVELESESVSEKGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRV
ILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWN
GKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKME
RPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNP
YVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQE
EESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQR
SQRISDSDISDYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGN
DQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSEL
LMLPRAKRGRSAECLHTTRHLVRHYKTLPPKMPLLQSSSHWNIYSSILPAHTKTKSVTRQ
DISLHHECFNSTVLRFTDEILVSELQPFLDRARSASTNCLRPDTSLHSPERERGRWSPSL
DRRRPPSPRIQIQHASPENDRHSRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPR
ATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVPGGSAPPSPLLTRMHRQRSPTQSPPAD
TSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYS
KYNIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFT
PKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVA
IVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSE
GNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRA
RSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQ
VIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSS
LESSTGPPCIRS

Sequence length

1692

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle Retrograde endocannabinoid signaling		Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Glutamate Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle Acetylcholine Neurotransmitter Release Cycle GABA synthesis, release, reuptake and degradation

218

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs560702162	RCV003128056
Cone-rod dystrophy 7	Likely pathogenic	rs1590681805	RCV001028030

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs369767778	RCV005912882
Cone-Rod Dystrophy, Dominant	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs201958591, rs142802827, rs886061706, rs373553229, rs537509888, rs555947867, rs113359739, rs886061713, rs886061709, rs886061722, rs886061718	RCV000305333 RCV000388163 RCV000370778 RCV000364281 RCV000275052 RCV000365353 RCV000275451 RCV000343933 RCV000360403 RCV000386150 RCV000286366 RCV000384499
Gastric cancer	Benign	rs185069362	RCV005899134
Leber congenital amaurosis	Conflicting classifications of pathogenicity	rs587783021	RCV000144472
Long QT syndrome	Uncertain significance	rs796052194	RCV000190210
Ornithine aminotransferase deficiency	Conflicting classifications of pathogenicity	rs1057519205	RCV001199743
Retinal dystrophy	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs140943787, rs121918302, rs77121218, rs752875047, rs201017334, rs142196418, rs190562383, rs776822598, rs371189625, rs767118962, rs761114297, rs200637817, rs777506314, rs2054153366, rs377567871 View all (8 more)	RCV004815535 RCV001074043 RCV004816457 RCV004816506 RCV004816612 RCV004816610 RCV004816611 RCV004816710 RCV001074089 RCV004813648 RCV004813664 RCV004813579 RCV001074137 RCV001075457 RCV001074096 RCV001074562 RCV001075544 RCV001074140 RCV001075777 RCV001073257 RCV001075591 RCV001073871 RCV004813757
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Uncertain significance	rs376566413, rs2154175134	RCV001591838 RCV001591839
RIMS1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs181193740, rs140943787, rs776775023, rs770258909, rs199933558, rs202107254, rs201556693, rs201473375, rs564292772, rs760492397, rs373560681, rs375337635, rs1042297490, rs548068627, rs1327529073 View all (8 more)	RCV003953683 RCV003928859 RCV003920980 RCV005397254 RCV005397275 RCV003941277 RCV003967423 RCV003955083 RCV003922581 RCV003932479 RCV003893483 RCV003944475 RCV003926767 RCV003978949 RCV003964272 RCV004757253 RCV003922943 RCV003950838 RCV003902936 RCV003978077 RCV004757373 RCV004731096 RCV003908451

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Astrocytoma	Associate	37169070
Autism Spectrum Disorder	Associate	25284784
Autistic Disorder	Associate	25961944, 29904178
Chromosome Aberrations	Associate	35947379
Cone Rod Dystrophies	Associate	15665353, 35947379
Cone Rod Dystrophy 7	Associate	15665353, 35947379
Developmental Disabilities	Associate	29904178
Fusariosis	Associate	32005944
Hemangioblastoma	Associate	28742274
Hypertensive Retinopathy	Associate	35947379
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	28677725
Macular Degeneration	Associate	35947379
Medulloblastoma	Associate	30402980
Retinal Dystrophies	Associate	34996991, 35947379
Stomach Neoplasms	Associate	30702489
Venous Thromboembolism	Associate	28011674

RIMS1 (regulating synaptic membrane exocytosis 1)