• Gene id: 22999

Gene Summary

• Gene Symbol: RIMS1   Gene   UCSC   Ensembl
• Aliases: CORD7, RAB3IP2, RIM, RIM1
• Gene name: regulating synaptic membrane exocytosis 1
• Alternate names: regulating synaptic membrane exocytosis protein 1, RAB3-interacting protein 2, rab-3-interacting protein 2, rab3-interacting molecule 1,
• Gene location: 6q13 (46228823: 46188445)     Exons: 23     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 606629

Protein Summary

• Protein general information: Q86UR5  
  • Name: Regulating synaptic membrane exocytosis protein 1 (Rab 3 interacting molecule 1) (RIM 1) (Rab 3 interacting protein 2)
  • Length: 1692  
  • Mass: 189073
  • Tissue specificity: Expressed in melanocytes (PubMed
• Sequence:

  MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTPRNAEN
  QPHQPSPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFCARCGGRVSLR
  SNNEDKVVMWVCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTA
  AASSQDAAPPSAPPDRSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQP
  VEGAVEERERKERRESRRLEKGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPNLARYPVKPPPEEQQM
  RMHARVSRARHERRHSDVALPRTEAGAALPEGKAGKRAPAAARASPPDSPRAYSAERTAETRAPGAKQLTNHSPP
  APRHGPVPAEAPELKAQEPLRKQSRLDPSSAVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKK
  RQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRV
  ILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNI
  ILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKL
  WYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRE
  RMLEITVWDQPRVQEEESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQR
  SQRISDSDISDYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQ
  RSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRHLVRHYKTLPP
  KMPLLQSSSHWNIYSSILPAHTKTKSVTRQDISLHHECFNSTVLRFTDEILVSELQPFLDRARSASTNCLRPDTS
  LHSPERERGRWSPSLDRRRPPSPRIQIQHASPENDRHSRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPR
  ATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVPGGSAPPSPLLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVP
  VRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKSSDSDVSDVSAI
  SRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGA
  GGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSE
  GNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAP
  YVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSS
  MVIGWYKLFPPSSLVDPTLTPLTRRASQSSLESSTGPPCIRS

• Structural information:
  • Protein Domains: (22..18-)
    (/note="RabBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00234-)
    (605..69-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (742..86-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR041282  IPR001478  IPR036034   IPR010911  IPR039032  IPR030630  IPR017455  IPR011011  
  • Prosite: PS50004 PS50106 PS50916 PS50178
  • PDB: 2CSS
  • PDBsum: 2CSS
  • STRING: ENSP00000428417
• Other Databases: GeneCards:  RIMS1  Malacards:  RIMS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	ISS	molecular function
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0046928	regulation of neurotransmitter secretion	TAS	biological process
GO:0097151	positive regulation of inhibitory postsynaptic potential	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0044325	ion channel binding	IBA	molecular function
GO:0048167	regulation of synaptic plasticity	IBA	biological process
GO:0048788	cytoskeleton of presynaptic active zone	IBA	cellular component
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IBA	biological process
GO:0050806	positive regulation of synaptic transmission	IBA	biological process
GO:0098831	presynaptic active zone cytoplasmic component	IBA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IBA	biological process
GO:0060478	acrosomal vesicle exocytosis	IDA	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0014047	glutamate secretion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:1903861	positive regulation of dendrite extension	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042734	presynaptic membrane	NAS	cellular component
GO:0042734	presynaptic membrane	ISS	cellular component
GO:0017156	calcium-ion regulated exocytosis	TAS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030695	GTPase regulator activity	TAS	molecular function
GO:0061025	membrane fusion	NAS	biological process
GO:0046903	secretion	NAS	biological process
GO:0045055	regulated exocytosis	NAS	biological process
GO:0016079	synaptic vesicle exocytosis	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04723	Retrograde endocannabinoid signaling
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray