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FLASH GENE
Symbol RIMS1 contributors: mct - updated : 09-07-2013
HGNC name regulating synaptic membrane exocytosis 1
HGNC id 17282
Corresponding disease
CORD7 retinal cone-rod dystrophy 7
Location 6q13      Physical location : 72.596.649 - 73.112.845
Synonym name
  • cDNA sequence, expressed in brain, >100kDa, related to murine rabphilin 3A
  • Rab3-interacting molecule (RIM)–binding protein
  • brain-specific Rab3a-binding protein
  • Synonym symbol(s) KIAA0340, RIM1, RAB3IP2, RIM, RP5-1046G13.1, RIM1alpha, CORD7
    DNA
    TYPE functioning gene
    STRUCTURE 516.44 kb     34 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    COL9A1 6q12-q13 collagen, type IX, alpha 1 LOC389409 6 LOC389409 KIAA1411 6q12-q13 KIAA1411 C6orf57 6q12 chromosome 6 open reading frame 57 LOC285783 6q13 similar to spermine synthase; spermidine aminopropyltransferase SMAP1 6q12-q13 stromal membrane-associated protein 1 B3GAT2 6q12 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S) LOC157713 6q13 lysophospholipase I-like OGFRL1 6q13 opioid growth factor receptor-like 1 C6orf155 6q13 chromosome 6 open reading frame 155 LOC391941 6 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene RIMS1 6q12-q13 regulating synaptic membrane exocytosis 1 LOC340167 6q14.1 similar to hypothetical protein DKFZp434A1315 KCNQ5 6q14 potassium voltage-gated channel, KQT-like subfamily, member 5 C6orf148 6q13 chromosome 6 open reading frame 148 EIF3S6P1 6q13 eukaryotic translation initiation factor 3, subunit 6 48kDa pseudogene 1 LOC391942 6 similar to syntenin-2alpha LOC391943 6 similar to Multifunctional protein ADE2 LOC340168 6q14.1 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 LOC154288 6q14.1 similar to RIKEN cDNA 2410004A20 RPL39P3 6q14.1 ribosomal protein L39 pseudogene 3 DDX43 6q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 C6orf150 6q13 chromosome 6 open reading frame 150 MTO1 6q14.1 mitochondrial translation optimization 1 homolog (S. cerevisiae)
    RNA
    TRANSCRIPTS type messenger
    text several trancripts, extensive alternative splicing involving exons 17, 21-26 and 28-30
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    34 - 7836 - 1692 - 2003 12871946
    21 - 5202 - 817 - 2003 12871946
    25 - 5787 - 1012 - 2003 12871946
    22 - 5059 - 760 - 2003 12871946
    22 - 5346 - 826 - 2003 12871946
    6 - 3286 - 219 - 2003 12871946
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   moderately Homo sapiens
     brainlimbic systemhippocampusdentate gyrus  Mus musculus
    Reproductivemale systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Visualcone photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal zinc finger, ligand of 14-3-3 proteins, that interacts with RAB3
  • a C2 domain, rabphilin-3A effector domain
  • PDZ domain
  • three C terminal SAM domains
  • two C2 domains located at the C terminus
  • HOMOLOGY
    interspecies homolog to murine Rabphilin 3A
    intraspecies homolog to RIMS2
    Homologene
    FAMILY RIM family of active zone proteins
    CATEGORY chaperone/stress , regulatory , signaling neurotransmitter , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
    text ribbon synapses of photoreceptor
    basic FUNCTION
  • playing an important role in synaptic transmission and synaptic plasticity
  • integrating active zone proteins and synaptic vesicles into a molecular scaffold that controls neurotransmitter release
  • regulating vesicle exocytosis during short-term plasticity
  • playing a possible role in the enhancement of cognitive function
  • RIMS1 and RIMS2 are multidomain active zone proteins of presynaptic terminals
  • RIMS1 and RIMS2 are not essential for synapse formation or synaptic exocytosis, but are required for normal Ca(2+)-triggering of exocytosis
  • mediates presynaptic plasticity and cognitive function
  • RIMS1, and RIMS2 co-ordinately regulate key functions for fast transmitter release, enabling a high presynaptic Ca²+ channel density and vesicle docking at the presynaptic active zone
  • acts as a functional link between neuronal Ca(V) channels and the machinery for exocytosis
  • might play a role in docking the RAB3-bound vesicles near CaV channels, functionally coupling channel activity to the exocytotic machinery in insulin-secreting cell
  • co-ordinately regulate key functions for fast transmitter release, enabling a high presynaptic Ca²+ channel density and vesicle docking at the active zone
  • essential not only for the integrity of the presynaptic active zone (AZ) scaffold but also for exocytotic neurotransmitter release
  • primarily act in release as physical Ca(2+)-channel tethers and not as Ca(2+)-channel modulators
  • presynaptic plasticity and proper function of RIMS1 play an important part in a neuron adaptive response to aberrant electrical activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RAB3A
  • interaction between UNC13A and RIMS1 is critical for glucagon-like peptide-1 mediated rescue of exocytotic defects in UNC13A deficient pancreatic beta-cells
  • PPFIA2 promotes the presynaptic recruitment and turnover of RIMS1/CASK to facilitate synaptic transmission
  • PNKD interacts with synaptic active zone proteins Rab3-interacting molecule (RIMS1) and RIMS2, localizes to synapses, and modulates neurotransmitter release
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CORD7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rim1alpha(-/-) throughout the brain showed that deletion of Rim1alpha results in multiple behavioral abnormalities
  • mice deficient in RIM1alpha exhibit abnormalities in multiple schizophrenia-relevant behavioral tasks including prepulse inhibition, response to psychotomimetic drugs, and social interaction