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FLASH GENE
Symbol DNM3 contributors: mct - updated : 04-11-2014
HGNC name dynamin 3
HGNC id 29125
Corresponding disease
DEL1QM chromosome 1q interstitial deletions
Location 1q24.3      Physical location : 171.810.620 - 172.381.856
Synonym name
  • KIAA0820 protein
  • dynamin, testicular
  • T-dynamin
  • T-dynamin
  • dynamin family member
  • Synonym symbol(s) Dyna III, KIAA0820, MGC70433
    EC.number 3.6.5.5
    DNA
    TYPE functioning gene
    STRUCTURE 571.24 kb     21 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 7647 - 859 - -
    21 - 7659 - 863 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   specific Homo sapiens
    Visualeyeretina    Mus musculus
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculus
    Visualcone photoreceptor Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin homology (PH) domain that binds phosphoinositides and this interaction appears to be crucial for its function (Bethoney 2009)
  • HOMOLOGY
    Homologene
    FAMILY
  • dynamin family
  • super-family of large GTPase proteins
  • CATEGORY adhesion , enzyme , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,ribosome
    text
  • is present in the terminals of photoreceptors and dendrites of second-order neurons but is most pronounced in the inner plexiform layer where second-order neurons relay signals from photoreceptors
  • basic FUNCTION
  • may be involved in vesicular trafficking processes, in
  • particular endocytosis
  • DNM1, DNM2, DNM3, decode action potential firing for synaptic vesicle recycling
  • GTPase protein that polymerise during their biological activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL1QM
    Susceptibility
    Variant & Polymorphism
    Candidate gene for the cognitive disability in del 1q25q25 microdeletion syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS