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FLASH GENE
Symbol SEPTIN11 contributors: mct - updated : 29-08-2019
HGNC name septin 11
HGNC id 25589
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
HOMOLOGY
Homologene
FAMILY
  • septin family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • playing a role in the development of proliferative retinal membranes
  • filament-forming GTP-binding protein involved in a variety of cellular process such as cytokinesis, exocytosis, and membrane dynamics
  • potentially playing important roles in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and also in GABAergic synaptic connectivity
  • is proteolytically cleaved into N-terminal fragments and, in addition to its prominent glial localization in normal brain, accumulates in thread-like pathology in affected cortex of in frontotemporal lobar degeneration patients
  • role for SEPT11 in lipid traffic and metabolism in adipocytes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with SEPT12 (GTP-binding by SEPT12 is required for interaction with SEPT11 but not with itself)
  • interaction partner of SEPT5
  • co-localisation of SEPT4 and SEPT11 with the vesicle-associated protein synaptobrevin 1 (VAMP1), but not clearly with actin
  • SEPTIN11 associated with caveolae in mature adipocytes and interacted with both CAV1 and the intracellular fatty acid chaperone, fatty acid binding protein 5 (FABP5)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with MLL in t(4;11)(q21;q23)in chronic neutrophilic leukemia and in lymphoblastic leukemia
    tumoral   LOH    
    may play an important role in hepatocellular carcinoma development and progression, and is associated with a significantly lower survival rate
    tumoral fusion      
    SEPTIN11/KMT2A in acute lymphoblastic leukemia (ALL)
    constitutional        
    impaired insulin signalling and insulin-induced lipid accumulation in adipocytes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS