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FLASH GENE
Symbol SEPTIN11 contributors: mct - updated : 29-08-2019
HGNC name septin 11
HGNC id 25589
Location 4q21.1      Physical location : -
Synonym name
  • epididymis secretory sperm binding protein
  • Synonym symbol(s) FLJ10849, SEPT11
    DNA
    TYPE functioning gene
    STRUCTURE 90.40 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 5582 - 429 - 2011 22126117
    12 - 5765 - 439 - 2011 22126117
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrainhindbraincerebellum   Homo sapiens
     brainlimbic systemhippocampus   Homo sapiensFetal
     nerve     Homo sapiens
    Olfactory (smell)olfactory bulb     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectiveadipose    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet Homo sapiens
    Nervousneuron Homo sapiens
    NervousPurkinje cell Homo sapiens
    not specificadipocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text stem cells
    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