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FLASH GENE
Symbol SEPTIN1 contributors: mct - updated : 28-08-2019
HGNC name septin 1
HGNC id 2879
Location 16p11.2      Physical location : -
Synonym name
  • differentiation 6 (deoxyguanosine triphosphate trisphosphohydrolase triphosphohydrolase)
  • serologically defined breast cancer antigen NY-BR-24
  • peanut-like protein 3
  • Synonym symbol(s) DIFF6, PNUTL3, LARP, MGC20394, SEP1, SEPT1
    EC.number 3.1.5.1
    DNA
    TYPE functioning gene
    STRUCTURE 4.70 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 1602 - 367 - 2014 24722188
    11 - 1437 - 372 - 2014 24722188
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus   highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
     tonsils   highly
    Respiratorylung   moderately
    Skin/Tegumentskin     Homo sapiens
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningepidermis   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    HOMOLOGY
    interspecies homolog to C. elegans Cyk1
    Homologene
    FAMILY
  • septin family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus
    text
  • cytoplasmic or nuclear protein
  • is localized to spindle poles in mitosis, suggesting its possible involvement in spindle assembly
  • basic FUNCTION
  • involved in cytokinesis
  • localizes to the spindle pole throughout mitosis, indicating that it may function in chromosome segregation as well
  • is likely a key player in spindle assembly and chromosome congression in meiosis
  • SEPT1 may participate in cell-cell and/or cell-substrate interaction in DJM-1 and exert its function in a coordinated manner with other septins
  • structural and functional integrity of the Golgi depends on its association with a septin 1 (SEPTIN1)-based scaffold, which promotes local microtubule nucleation and positioning of the Golgi
  • CELLULAR PROCESS cell cycle, division
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • assembling into a multicomponent structure
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
  • protein
  • partner of AURKB
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    SEPT1 depletion triggers a massive fragmentation of the Golgi ribbon, thereby compromising anterograde membrane traffic at the level of the Golgi
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • may be a potential diagnostic marker of highly active cancer in oral squamous-cell carcinoma (OSCC)
  • Therapy target
    SystemTypeDisorderPubmed
    cancerhead and neck 
    therapeutic target for OSCCs
    ANIMAL & CELL MODELS