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FLASH GENE
Symbol SEPTIN3 contributors: mct - updated : 28-08-2019
HGNC name septin 3
HGNC id 10750
Location 22q13.2      Physical location : -
Synonym name
  • neuronal-specific septin 3
  • G-septin
  • Synonym symbol(s) SEP3, MGC133218, SEPT3
    DNA
    TYPE functioning gene
    STRUCTURE 28.78 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 splicing 2618 39 358 - 2001 11322766
    variant A
    10 splicing 4656 - 350 neurospecific expression 2001 11322766
  • isoform B
  • 12 splicing 4084 - 856 - 2001 11322766
  • variant C
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainlimbic systemhippocampus highly Homo sapiensFetal
     nerve   highly Homo sapiens
     nervecranial nerve  highly
    Reproductivemale systemprostate  moderately
    Respiratorylung   moderately
    Visualeye   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains three GTPase motifs (G-1, G-3 and G-4)
    HOMOLOGY
    interspecies homolog to murine Sept3
    Homologene
    FAMILY septin family of GTPase
    CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in cytokinesis, cell polarity or exocytosis
  • neurone-specific protein highly enriched in nerve terminals which supports a secretory role in synaptic vesicle recycling
  • SEPT3 and SEPT5 are dispensable for neuronal development as well as for synaptic vesicle fusion and recycling
  • may be important determinants of polymerization by occupying the terminal position in octameric units which themselves form the building blocks of at least some heterofilaments
  • pivotal role for SUMOylation in septin filament bundling and cell division
  • CELLULAR PROCESS cell cycle, division
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component assembled into a multicomponent structure
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    GTP
    protein
  • SEPTIN3 directly binds to SEPTIN5 and SEPTIN7 and forms a heteromeric complex at nerve terminals adjacent to where a synaptic vesicle marker, synaptophysin, is expressed in mature neurons
  • cell & other
    REGULATION
    activated by neuronal differentiation
    upregulated by retinoic acid induced differentiation of NT2 cells
    Other phosphorylated by cGMP-dependent protein kinase I (PKG-I) and the cGMP/PKG pathway is involved in presynaptic plasticity
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS