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RIMS1 Gene

protein-coding   GIFtS: 61
GCID: GC06P072653

Regulating Synaptic Membrane Exocytosis 1

(Previous name: RAB3 interacting protein 2)
(Previous symbols: RAB3IP2, CORD7)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Regulating Synaptic Membrane Exocytosis 11 2     RAB3 Interacting Protein 21
RAB3IP21 2 3     Rab3-Interacting Molecule1
CORD71 2 5     Rab3-Interacting Molecule 12
RIM12 3 5     RAB3-Interacting Protein 22
Rab-3-Interacting Protein 22 3     Regulating Synaptic Membrane Exocytosis Protein 12
RIM2 5     Rab-3-Interacting Molecule 13
KIAA03403 5     RIM 13

External Ids:    HGNC: 172821   Entrez Gene: 229992   Ensembl: ENSG000000798417   OMIM: 6066295   UniProtKB: Q86UR53   

Export aliases for RIMS1 gene to outside databases

Previous GC identifers: GC06P072554 GC06P072592 GC06P069794


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RIMS1 Gene:
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 suggested a role cognition and have been identified as the cause of cone-rod dystrophy
type 7. Multiple transcript variants encoding different isoforms have been described for this gene. (provided by
RefSeq, Mar 2012)

GeneCards Summary for RIMS1 Gene:
RIMS1 (regulating synaptic membrane exocytosis 1) is a protein-coding gene. Diseases associated with RIMS1 include cone-rod dystrophy 7, and benign concentric annular macular dystrophy. GO annotations related to this gene include ion channel binding and small GTPase regulator activity. An important paralog of this gene is RIMS3.

UniProtKB/Swiss-Prot: RIMS1_HUMAN, Q86UR5
Function: Rab effector involved in exocytosis. 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 during short-term synaptic plasticity (By similarity)

Gene Wiki entry for RIMS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RIMS1 gene promoter:
         Nkx3-1 v2   Nkx3-1   Nkx3-1 v4   p53   Nkx3-1 v3   Nkx3-1 v1   LCR-F1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRIMS1 promoter sequence
   Search Chromatin IP Primers for RIMS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RIMS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q12-q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q12-q13

RIMS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIMS1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P072653:  view genomic region     (about GC identifiers)

Start:
72,596,406 bp from pter      End:
73,112,845 bp from pter
Size:
516,440 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RIMS1_HUMAN, Q86UR5 (See protein sequence)
Recommended Name: Regulating synaptic membrane exocytosis protein 1  
Size: 1692 amino acids; 189073 Da
Subunit: Binds RAB3A, RAB3B and RAB3D that have been activated by GTP-binding. Interacts with RAB3C, RAB10, RAB26
AND RAB37. Binds UNC13A. Interacts with BZRAP1/RIMBP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts
with ERC1 (By similarity). Binds SNAP25, SYT1 and CACNA1B. Interaction with SYT1 is enhanced by calcium ions.
Interaction with SNAP25 is weaker in the presence of calcium ions
Sequence caution: Sequence=BAA20798.1; Type=Erroneous initiation; Sequence=CAI39600.1; Type=Erroneous gene model
prediction; Sequence=CAI42135.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for RIMS1:
2CSS (3D)    
Secondary accessions: A7MBN6 B7Z2M0 B7Z2Q9 B7Z3S3 B7Z6S2 E7EX08 E9PCB7 E9PCZ1 E9PF48 E9PHF5
E9PHR1 O15048 Q5JY21 Q5JY25 Q5SZK1 Q8TDY9 Q8TDZ5 Q9HBA1 Q9HBA2 Q9HBA3 Q9HBA4 Q9HBA5 Q9HBA6
Alternative splicing: 13 isoforms:  Q86UR5-1   Q86UR5-2   Q86UR5-3   Q86UR5-4   Q86UR5-5   Q86UR5-6   Q86UR5-7   Q86UR5-8   
Q86UR5-9   Q86UR5-10   Q86UR5-11   Q86UR5-12   Q86UR5-13   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RIMS1: NX_Q86UR5

Explore proteomics data for RIMS1 at MOPED

Post-translational modifications: 

  • Phosphorylated by BRSK1 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RIMS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001161879.1  NP_001161880.1  NP_001161881.1  NP_001161882.1  NP_001161883.1  NP_055804.2  

    ENSEMBL proteins: 
     ENSP00000430101   ENSP00000429959   ENSP00000430408   ENSP00000430932   ENSP00000428417  
     ENSP00000430502   ENSP00000264839   ENSP00000430359   ENSP00000385649   ENSP00000428328  
     ENSP00000411235   ENSP00000389503   ENSP00000428367   ENSP00000359448   ENSP00000429338  
     ENSP00000402273   ENSP00000275037   ENSP00000439730  
    Reactome Protein details: Q86UR5

    RIMS1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR013083 Znf_RING/FYVE/PHD
     IPR010911 Znf_FYVE-typ
     IPR001478 PDZ
     IPR017455 Znf_FYVE-rel
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry Q86UR5

    ProtoNet protein and cluster: Q86UR5

    3 Blocks protein domains:
    IPB000008 C2 domain
    IPB000306 Zn-finger
    IPB001478 PDZ/DHR/GLGF domain


    UniProtKB/Swiss-Prot: RIMS1_HUMAN, Q86UR5
    Similarity: Contains 2 C2 domains
    Similarity: Contains 1 FYVE-type zinc finger
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 RabBD (Rab-binding) domain


    RIMS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIMS1_HUMAN, Q86UR5
    Function: Rab effector involved in exocytosis. 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 during short-term synaptic plasticity (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005083small GTPase regulator activity TAS11438518
    GO:0005515protein binding IPI11438518
    GO:0017137Rab GTPase binding IEA--
    GO:0044325ion channel binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    RIMS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RIMS1:
     Synthetic lethal with Ras 

         6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rims1):
     behavior/neurological  homeostasis/metabolism  mortality/aging  nervous system  normal 
     skeleton 

    RIMS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RIMS1: Rims1tm1Sud Rims1tm3.1Sud

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RIMS1
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    hsa-miR-548j hsa-miR-579 hsa-miR-3152-3p hsa-miR-200a hsa-miR-30d hsa-miR-219-5p hsa-miR-371-5p hsa-miR-759
    SwitchGear 3'UTR luciferase reporter plasmidRIMS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RIMS1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RIMS1_HUMAN, Q86UR5: Cell membrane; Peripheral membrane protein (By similarity). Cell junction, synapse (By
    similarity). Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    nucleus3
    cytoskeleton1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0030054cell junction IEA--
    GO:0042734presynaptic membrane NAS11438518
    GO:0045202synapse ----

    RIMS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RIMS1 About    
    See pathways by source

    SuperPathContained pathways About
    1Neurotransmitter Release Cycle
    Serotonin Neurotransmitter Release Cycle0.40
    GABA synthesis, release, reuptake and degradation0.00
    Effects of Botulinum toxin0.40
    Glutamate Neurotransmitter Release Cycle0.00
    Neurotransmitter Release Cycle0.32
    Dopamine Neurotransmitter Release Cycle0.00
    Acetylcholine Neurotransmitter Release Cycle0.00
    Norepinephrine Neurotransmitter Release Cycle0.00
    2Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    4Circadian entrainment
    Retrograde endocannabinoid signaling0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for RIMS1
        Synaptic Vesicle Pathway
    Effects of Botulinum toxin

    Selected Reactome Pathways for RIMS1 (see all 6)
        Acetylcholine Neurotransmitter Release Cycle
    Glutamate Neurotransmitter Release Cycle
    Norepinephrine Neurotransmitter Release Cycle
    Dopamine Neurotransmitter Release Cycle
    GABA synthesis, release, reuptake and degradation


    2 Kegg Pathways  (Kegg details for RIMS1):
        Synaptic vesicle cycle
    Retrograde endocannabinoid signaling


    RIMS1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RIMS1
    Interactions:

        GeneGlobe Interaction Network for RIMS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RIMS1 (Q86UR51, 2, 3 ENSP000002648394) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005191, 2, 3, ENSP000003614234EBI-1043236,EBI-375543 MINT-8110695 I2D: score=3 STRING: ENSP00000361423
    RAB26Q9ULW53, ENSP000002101874I2D: score=3 STRING: ENSP00000210187
    RAB37Q96AX23, ENSP000003763894I2D: score=3 STRING: ENSP00000376389
    CACNA1CQ139363, ENSP000002663764I2D: score=2 STRING: ENSP00000266376
    ERC2O150833, ENSP000002882214I2D: score=2 STRING: ENSP00000288221
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly IDA11438518
    GO:0006886intracellular protein transport IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0007601visual perception IEA--

    RIMS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RIMS1

    2 HMDB Compounds for RIMS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RIMS1 gene (6 alternative transcripts): 
    NM_001168407.1  NM_001168408.1  NM_001168409.1  NM_001168410.1  NM_001168411.1  NM_014989.5  

    Unigene Cluster for RIMS1:

    Regulating synaptic membrane exocytosis 1
    Hs.485729  [show with all ESTs]
    Unigene Representative Sequence: NM_014989
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000370419(uc003pgb.4) ENST00000491071 ENST00000517960 ENST00000518273
    ENST00000522291 ENST00000521978 ENST00000520567 ENST00000264839(uc003pga.3 uc011dyb.2 uc003pgc.3 uc010kaq.3 uc011dyc.2 uc010kar.3 uc011dyd.2 uc003pge.3 uc003pgg.3 uc003pgh.3 uc003pgd.3 uc011dye.2)
    ENST00000517433 ENST00000401910 ENST00000523963 ENST00000425662 ENST00000453976
    ENST00000524197(uc010kas.1) ENST00000517827 ENST00000370420 ENST00000522211
    ENST00000463023
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    hsa-miR-548j hsa-miR-579 hsa-miR-3152-3p hsa-miR-200a hsa-miR-30d hsa-miR-219-5p hsa-miR-371-5p hsa-miR-759
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    Additional mRNA sequence: 

    AF263305.1 AF263306.1 AF263307.1 AF263308.1 AF263309.1 AF263310.1 AK095726.1 AK293828.1 
    AK294868.1 AK295001.1 AK295177.1 AK296303.1 AK300503.1 AK300853.1 AK302571.1 AK308658.1 
    AK309185.1 AK311105.1 AK316108.1 AY190519.1 BC036608.1 

    8 DOTS entries:

    DT.311490  DT.311491  DT.95369608  DT.100777308  DT.95369606  DT.95369605  DT.121346908  DT.92071917 

    Selected AceView cDNA sequences (see all 49):

    BC036608 AF263307 AB051866 AI299437 AA057093 NM_014989 H29290 BX496201 
    AF263310 T09261 F11783 AB002338 AB045726 AA894415 AF263308 AW956936 
    AF263306 AF263309 AY190519 AF263305 AA917450 AI791768 AI200874 T09262 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RIMS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RIMS1 Expression
    About this image


    RIMS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             Human Brain Vascular Smooth Muscle Cells (HBVSMC)   
             cerebellum   
     
     Smooth Muscle (Muscoskeletal System)
             Human Brain Vascular Smooth Muscle Cells (HBVSMC)   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Eye (Sensory Organs)
             Retina
    RIMS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RIMS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485729

    UniProtKB/Swiss-Prot: RIMS1_HUMAN, Q86UR5
    Tissue specificity: Detected in brain and retina

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIMS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RIMS1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rims11 , 5 regulating synaptic membrane exocytosis 11, 5 88.77(n)1
    93.9(a)1
      1 (8.54 cM)5
    1168371  NM_053270.11  NP_444500.11 
     222884225 
    chicken
    (Gallus gallus)
    Aves RIMS11 regulating synaptic membrane exocytosis 1 83.43(n)
    88.81(a)
      421867  XM_004940434.1  XP_004940491.1 
    lizard
    (Anolis carolinensis)
    Reptilia RIMS16
    regulating synaptic membrane exocytosis 1
    84(a)
    1 ↔ 1
    GL343341.1(798016-1124220)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rims11 regulating synaptic membrane exocytosis 1 76.44(n)
    82.99(a)
      100124728  NM_001102710.1  NP_001096180.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AL921527.12   -- 77.66(n)    AL921527.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rim3 synaptic vesicle exocytosis 61(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-103   -- 46(a)   X(7307800-7315553)   --


    ENSEMBL Gene Tree for RIMS1 (if available)
    TreeFam Gene Tree for RIMS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RIMS1 gene
    RIMS32  RIMS22  RIMS42  
    9 SIMAP similar genes for RIMS1 using alignment to 8 protein entries:     RIMS1_HUMAN (see all proteins):
    RIMS3    DKFZp781A0653    RIM2    RIMS4    RIMS2    PRKCG
    CHR11SYT    PCLO    PIK3C2B

    RIMS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RIMS1 (see all 9588)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0168044
    Cone-rod dystrophy 7 (CORD7)4--see VAR_0168042 R H mis40--------
    rs1219183021,2
    Cpathogenic172989868(+) ACATCA/GTAGAG 10 H R mis10--------
    rs1422908171,2
    C--69798612(+) TTTGT-/AAAAAAA 1 -- int10--------
    rs339952621,2
    C--69798937(+) ATTTA-/CGTAAT 1 -- int10--------
    rs2017105971,2
    C--69799188(+) ACTCTC/TTCATA 1 -- int10--------
    rs1448132981,2
    C--69802489(+) GTCTG-/AAAAAA 1 -- int10--------
    rs1503156471,2
    C--69808098(+) TTGAT-/AAAAAT 1 -- int10--------
    rs722190261,2
    C--69869876(+) GATAG-/GTTTT 
            
    GTTTT
    1 -- int10--------
    rs802509191,2
    --69892912(+) ATGTAC/TATATC 1 -- int11Minor allele frequency- T:0.50NA 2
    rs721426991,2
    C--69900893(+) TTCTC-/CTTCTTCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RIMS1 (72596406 - 72846406 bp, first 250kb of RIMS1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RIMS1 (see all 34):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2536377CNV Deletion19546169
    esv2657331CNV Deletion23128226
    esv2656505CNV Deletion23128226
    esv2732275CNV Deletion23290073
    nsv821430CNV Deletion20802225
    esv2732274CNV Deletion23290073
    esv2452816CNV Deletion19546169
    esv2619394CNV Deletion19546169
    dgv1129e199CNV Deletion23128226
    esv2298302CNV Deletion18987734

    Human Gene Mutation Database (HGMD): RIMS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RIMS1
    DNA2.0 Custom Variant and Variant Library Synthesis for RIMS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606629   
    OMIM disorders: 603649  
    UniProtKB/Swiss-Prot: RIMS1_HUMAN, Q86UR5
  • Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal
    pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone
    photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central
    visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis
    pigmentosa. Note=The disease may be caused by mutations affecting the gene represented in this entry

  • 17 diseases for RIMS1:    
    About MalaCards
    cone-rod dystrophy 7    benign concentric annular macular dystrophy    cone-rod dystrophy    cone-rod dystrophy 2
    partial central choroid dystrophy    macular dystrophy    fundus dystrophy    pigmentary retinopathy
    choroiditis    retinal disease    retinitis pigmentosa    retinitis
    pulmonary function    multiple myeloma    myeloma    cerebritis
    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for RIMS1:
    cone-rod dystrophy     Partial central choroid dystrophy     Fundus dystrophy

    RIMS1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for RIMS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cone-rod dystrophy 90.5 6 15665353 (3), 9634506 (1), 17237123 (1), 14691150 (1)

    Genetic Association Database (GAD): RIMS1
    Human Genome Epidemiology (HuGE) Navigator: RIMS1 (4 documents)

    Export disorders for RIMS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RIMS1 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with RIMS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP- 25, and synaptotagmin. (PubMed id 11438518)1, 2, 3 Coppola T.... Regazzi R. (J. Biol. Chem. 2001)
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1997)
    3. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    4. Common genetic variation and performance on standardized cognitive tests. (PubMed id 20125193)1, 4 Cirulli E.T....Goldstein D.B. (Eur. J. Hum. Genet. 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    7. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (Eur. J. Hum. Genet. 2009)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). (PubMed id 12659814)1, 2 Johnson S.... Hunt D.M. (Genomics 2003)
    10. Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. (PubMed id 17237123)1, 9 Sisodiya S.M....Moore A.T. (J. Med. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 22999 HGNC: 17282 AceView: RIMS1 Ensembl:ENSG00000079841 euGenes: HUgn22999
    ECgene: RIMS1 Kegg: 22999 H-InvDB: RIMS1

    (According to HUGE)
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    HUGE: KIAA0340

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RIMS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RIMS1 gene:
    Search GeneIP for patents involving RIMS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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