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FLASH GENE
Symbol RAB3A contributors: mct - updated : 02-02-2017
HGNC name RAB3A, member RAS oncogene family
HGNC id 9777
Location 19p13.11      Physical location : 18.307.610 - 18.314.874
Synonym name RAS-associated protein RAB3A
DNA
TYPE functioning gene
STRUCTURE 7.26 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 1528 - 220 - 1998 9733780
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Visualeye    
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • RAS domain
  • HOMOLOGY
    interspecies ortholog to murine Rab3a
    ortholog to rattus rab3a
    Homologene
    FAMILY
  • small GTPase superfamily
  • Rab family
  • CATEGORY regulatory , protooncogene , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text synaptic vesicles
    basic FUNCTION
  • regulator of Ca2+ dependent exocytosis of neurotransmitter
  • playing a key role in neurotransmitter release and synaptic plasticity
  • selective role in spontaneous transmitter release at the neuromuscular junction
  • RAB3-induced modifications to primed vesicles causes a transient increase in the transduction efficacy of synaptic action potential trains and optimizes the encoding of synaptic information at an intermediate spike frequency range
  • small GTP binding protein associated with presynaptic vesicles that is thought to regulate vesicle targeting to active zones
  • potential role in trafficking and targeting vesicles to the active zones
  • may regulate SNAP29-mediated membrane fusion during myelination
  • specifically stimulates morphological differentiation of mature oligodendrocytes and thus may be part of the necessary machinery for myelin membrane biogenesis
  • having an additional and unexpected function in the localization of presynaptic proteins to active zones
  • with RAB27B, probably in concert with RAB3B and RAB3C, is involved in synaptic vesicles exocytosis
  • synapsin II and RAB3A have separate roles in maintaining the total store of synaptic vesicles and cooperate in promoting the latest steps of neuronal secretion
  • play two distinct stimulating roles for large dense-core vesicles fusion in embryonic chromaffin cells, by facilitating vesicle biogenesis and stabilizing the primed vesicle state
  • RAB3A and RAB27A regulate late steps during dense-core vesicle exocytosis in neuroendocrine cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
  • RAB27A/RAB3A constitutes a Rab-GEF cascade in dense-core vesicle exocytosis
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • RAB3GAP and RAB3 GDP/GTP exchange factor
  • VAMP2 and RAB3A are SNARE proteins that interact with RABAC1
  • RAB3A, RAB24, and septin 4 bind to the N-terminal domain of SNAP29
  • MYO5A and RAB3A are direct binding partners and interact on synaptic vesicles and the MYO5A/RAB3A complex is involved in transport of neuronal vesicles
  • RAB3IL1 is a dual RAB-binding protein that could potentially link RAB3A and RAB11A/RAB11B and/or RAB8A/RAB8B and RAB11-mediated intracellular trafficking processes
  • cell & other
    REGULATION
    activated by RAPGEF3 (RAPGEF3 activates the small G proteins RAP1GDS1 and RAB3A to achieve exocytosis)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    early bird mouse, semi dominant mutation altering circadian period and homeostatic response to sleep loss