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FLASH GENE
Symbol SEPTIN9 contributors: mct/npt - updated : 22-01-2019
HGNC name septin 9
HGNC id 7323
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a threonine AA within the N-terminal region of the long form of SEPT9 , and a consensus motif within the SEPT9 N-terminal domain that supports its association with the adaptor protein SH3KBP1
  • 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
    text
  • associate with the microtubule (MT) and actin cytoskeleton
  • 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
  • SEPTIN2, SEPTIN7, and SEPTIN9 are required for efficient bacterial invasion
  • SEPT9 promotes the formation and maintenance of long stable MTs through a mechanism that may involve recruitment of unpolymerized tubulin to the MT lattice
  • expressed and synthesized during differentiation of human osteoclasts
  • play a previously unappreciated role in osteoclastic bone resorption
  • 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)
  • contributed to alleviate liver fibrosis might partially through promoting activated hepatic stellate cells (HSCs) apoptosis and this anti-fibrogenesis effect might be blocked by DNMT3A mediated methylation of 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
  • novel approach for the early detection of CRC, using SEPT9 promoter methylation, micronuclei frequency and genotypes, with the potential to improve Colorectal Cancer (CRC) risk assessment
  • 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
    digestiveliversteatosis
    pharmacological agents that inhibit SEPT9 methylation and increase its expression could be considered as valuable treatments for liver fibrosis
    ANIMAL & CELL MODELS