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FLASH GENE
Symbol SEPT9 contributors: mct/npt - updated : 18-02-2014
HGNC name septin 9
HGNC id 7323
Corresponding disease
HNA hereditary neuralgic amyotrophy
Location 17q25.3      Physical location : 75.277.491 - 75.496.676
Synonym name
  • septin D1/ovarian/breast septin
  • mixed (myeloid/lymphoid) lineage leukemia septin-like fusion partner gene
  • MLL septin-like fusion
  • ovarian/Breast septin
  • Ov/Br septin
  • Synonym symbol(s) MLLT9, KIAA0991, PNUTL4, SINT1, AF17q25, MSF, SeptD1
    DNA
    TYPE functioning gene
    STRUCTURE 219.19 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text alternative splicing of exons 1 and 2
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 3837 73 586 high expression have been observed in both breast cancer cell lines, primary breast cancers as well as other solid tumor malignancies 2000 10673329
  • MSF-A, or variant 1
  • septin isoform implicated in the tumorigenic transformation of mammary epithelial cells
  • interaction with JNK, a mitogen-activated protein kinase important in cellular stress responses, cell proliferation, and cell survival
  • functional role in driving cellular proliferation of mammary epithelial cells, a hallmark feature of oncogenesis that is directly relevant to breast cancer
  • a threonine AA within the N-terminal region of the long form of SEPT9
  • 11 splicing 3998 - 579 - 2000 10673329
  • MSF-B, or variant 2
  • 645 bp exon encodes a majority of the N-terminal proline-rich region, that play a role in SEPT9 filament formation
  • 12 - 4012 - 422 - 2000 10673329
    11 - 3951 - 422 - 2000 10673329
    10 - 3651 - 474 - 2000 10673329
  • exon 1 beta and loss of exon 2
  • regulated by translational control
  • may have a role in neoplasia (over-expression induces altered cell polarity and increased motility and can alter microtubule dynamics)
  • - - - - - predominant in tumours 2012 22278362
  • exon 1 zeta
  • in tumours, elevated levels of SEPT9_v4* mRNA, a transcript that is translated with enhanced efficiency leading to increased SEPT9 isoform 4 protein
  • 11 - 4469 - 568 - 2000 10673329
  • variant 3
  • 645 bp exon encodes a majority of the N-terminal proline-rich region, that play a role in SEPT9 filament formation
  • 10 - 3246 - 335 - 2000 10673329
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  predominantly
     stomach    
    Lymphoid/Immunelymph node   highly
     thymus   highly
    Nervousbrain   highly
    Reproductivefemale systembreastmammary gland highly
     female systemovary   
    Urinarybladder    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte
    Nervousglia
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text neural crest cells, cephalic mesenchyme and mesenchymal cells in developing limb
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a threonine AA within the N-terminal region of the long form of SEPT9
  • a xylose isomerase 1 domain
  • a conserved GTPase domain
  • a proline-rich motif
  • a polybasic region
  • a coiled-coil domain
  • HOMOLOGY
    interspecies ortholog to murine Sept9
    ortholog to rattus sept9
    Homologene
    FAMILY
  • cytoskeleton-related septin family
  • filament-forming GTPases family
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • cell cycle control, candidate for ovarian tumor suppression gene
  • involved in T-cell lymphomagenesis
  • function through interaction with other septins and small GTPase Rho-mediated signaling
  • dispensable for the early stages of cell division, but is critical for the final separation of daughter cells
  • mediates the localization of the vesicle-tethering exocyst complex to the midbody, providing mechanistic insight into the role of SEPT9 during abscission
  • importance of SEPT9 for septin filament formation and general cell stability
  • guanosine triphosphatase-binding protein required for cytokinesis
  • assemble into rod-shaped oligomeric complexes that join end-on-end to form filaments
  • SEPT9 holds a terminal position in the septin octamers, mediating abscission-specific polymerization during cytokinesis
  • SEPT9 expression level directs the hexamer-to-octamer ratio, and the isoform composition and expression level together determine higher-order arrangements of septins
  • both SEPT9 and PIN1 are critical for mediating the final separation of daughter cells
  • plays multiple roles in abscission, one of which is regulated by the action of CDK1 and PIN1
  • negatively regulates EGFR degradation by preventing the association of the ubiquitin ligase CBL with SH3KBP1, resulting in reduced EGFR ubiquitylation
  • modulates likely the interactions of KIF17 with membrane cargo
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • SEPT2 forms a 1:1:1 complex with SEPT7 and SEPT9 and the three members of this complex colocalize along the length of the axoneme
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with SEPT4 and SEPT11
  • binding SEPT14 (Peterson 2007)
  • is a putative binding partner of PLK1, which has been shown to act as a regulator of cytokinesis
  • interaction with PIN1 is controlled by CDK1 and is necessary for timely cytokinesis
  • PIN1 interacts with SEPT9 upon mitotic phosphorylation at Thr-24 by CDK1
  • SH3KBP1-SEPT9 is localized exclusively to the plasma membrane, where SEPT9 is recruited to EGF-engaged receptors in a SH3KBP1-dependent manner
  • interaction between KIF17, a kinesin 2 family motor, and septin 9 (SEPT9)
  • cell & other
    REGULATION
    Phosphorylated by CDK1 creates a binding site for PIN1 that is required for cytokinesis
    Other regulated by Rho/ Rhotekin signaling
    ASSOCIATED DISORDERS
    corresponding disease(s) HNA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25).
    tumoral     --over  
    in diverses tumors
    tumoral fusion      
    with MLL in acute myeloid leukemia
    tumoral   deletion    
    in sporadic epithelial ovarian tumors
    tumoral     --low  
    by hypermethylation in the progression of colon neoplastic disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    promising tool in breast cancer detection and further emphasize the importance of analyzing and targeting SEPT9 isoform-specific expression and function
    ANIMAL & CELL MODELS