RIMS1 (regulating synaptic membrane exocytosis 1)

Gene

• Entrez ID: 22999
• Gene name: Regulating synaptic membrane exocytosis 1
• Gene symbol: RIMS1
• Synonyms: CORD7, RAB3IP2, RIM, RIM1
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	11438518, 17474147
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	ISS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0007269	Process	Neurotransmitter secretion	TAS
GO:0007601	Process	Visual perception	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0014047	Process	Glutamate secretion	TAS
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	11438518
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	ISS
GO:0042391	Process	Regulation of membrane potential	IBA	21873635
GO:0042734	Component	Presynaptic membrane	IBA	21873635
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042734	Component	Presynaptic membrane	NAS	11438518
GO:0042995	Component	Cell projection	IEA
GO:0044325	Function	Ion channel binding	IBA	21873635
GO:0045055	Process	Regulated exocytosis	NAS	11438518
GO:0046872	Function	Metal ion binding	IEA
GO:0046903	Process	Secretion	NAS	11438518
GO:0046928	Process	Regulation of neurotransmitter secretion	TAS	15217342
GO:0048167	Process	Regulation of synaptic plasticity	IBA	21873635
GO:0048786	Component	Presynaptic active zone	TAS	15217342
GO:0048788	Component	Cytoskeleton of presynaptic active zone	IBA	21873635
GO:0048791	Process	Calcium ion-regulated exocytosis of neurotransmitter	IBA	21873635
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	IBA	21873635
GO:0050896	Process	Response to stimulus	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:1903861	Process	Positive regulation of dendrite extension	IDA	23999003
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IBA	21873635
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

Other IDs

• MIM: 606629
• HGNC: 17282
• e!Ensembl: ENSG00000079841

Protein

• UniProt ID: 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

• 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

Pathways

KEGG:

Synaptic vesicle cycle
Retrograde endocannabinoid signaling

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	25961944
Cone-rod dystrophy	Cone-Rod Dystrophy 7, Cone-Rod Dystrophy 2, Cone rod dystrophy, Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209, rs104894672, rs61748436, rs2123743692, rs61751408, rs61751374, rs61750200, rs62642560, rs61752410, rs121909206, rs387906388, rs61753033, rs61750172, rs61750173, rs267606857, rs606231180, rs606231181, rs137852551, rs863223294, rs61755792, rs61755786, rs62625014, rs781781440, rs137853932, rs1064792853, rs387907136, rs397517974, rs397517994, rs786200944, rs398123044, rs398122960, rs61752435, rs1800728, rs398124354, rs61749679, rs61750184, rs61755781, rs281865373, rs62653029, rs62635009, rs281865297, rs61748558, rs61749409, rs61750202, rs61750065, rs61751398, rs61750146, rs281865377, rs61751388, rs62646861, rs61750158, rs61751403, rs62646872, rs61750575, rs61751407, rs61750645, rs281865516, rs61751266, rs137853907, rs483353055, rs587777469, rs587777470, rs587777471, rs199882533, rs76216585, rs587777693, rs587777694, rs786205151, rs150115958, rs2723341, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs794727197, rs192003551, rs886041039, rs863224913, rs771214648, rs863225090, rs751163782, rs875989778, rs886044750, rs768278935, rs886044735, rs201471607, rs61752398, rs878853400, rs886037880, rs886037881, rs886039559, rs748706582, rs886039882, rs886041900, rs886042153, rs749526785, rs1057516195, rs1057516199, rs543698823, rs199840367, rs752175052, rs1085307121, rs104893793, rs1064797182, rs1131691378, rs778234759, rs1553193813, rs373331232, rs756678484, rs780667159, rs1557110499, rs1553901823, rs201587670, rs1439202144, rs1555635778, rs1429786931, rs1553187160, rs1553188916, rs1555345387, rs61749412, rs951379922, rs1554186472, rs767528365, rs1210104601, rs776289402, rs750740765, rs544616523, rs75459701, rs759940113, rs1557787559, rs782581701, rs771116776, rs1006935198, rs755733328, rs1560141393, rs121918567, rs752263228, rs775957498, rs1030149008, rs530749007, rs141823837, rs1570393848, rs1571250020, rs1570382663, rs78484040, rs766357803, rs1437021651, rs1601982595, rs1597331616, rs748798324, rs759408031, rs747512450, rs373680665, rs1355802816, rs374017889, rs1589307705, rs376500610, rs1598146173, rs1598149154, rs752619497, rs1571257937, rs1572829866, rs1426009756, rs1464167194, rs1588391640, rs1588865728, rs1589306127, rs1420750126, rs1598150539, rs1598150793, rs1601972449, rs782740998, rs767366723, rs1602653110, rs778456901, rs1662213462, rs1662507319, rs751644763, rs1689012192, rs1667508280, rs1719285721, rs1734066547, rs1800111659, rs1827340429, rs1196886096, rs1882924778, rs2046020472, rs2046113301, rs1594280740, rs1590681805, rs1570373408, rs369973540, rs1005271380, rs368213921, rs535922252, rs745741473, rs138370992, rs772656461, rs749738655, rs1968173024, rs746128841, rs1887576038, rs909373397, rs750116711, rs1659840790, rs1768016995, rs1186795749	12659814, 28677725, 12659814
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder, Depression, Bipolar		31043756
Disorder of eye	Disorder of eye		28677725
Manic disorder	Manic, Manic Disorder		31043756
Nyctalopia	Nyctalopia