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FLASH GENE
Symbol SEPTIN5 contributors: mct/ - updated : 28-08-2019
HGNC name septin 5
HGNC id 9164
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a P-loop nucleotide binding
  • GTPase motif
    • HOMOLOGY
    interspecies homolog to Drosophila melanogaster peanut-like gene 1
    homolog to murine Sept5
    homolog to C.elegans w09c5.2
    intraspecies homolog to PNUTL2
    Homologene
    FAMILY
  • septin family
  • GTP binding protein/GTPase family
    • CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,cytoplasm,cytoskeleton,microtubule
    text localized surrounding alpha-granules
    basic FUNCTION
  • involved in myeloid leukemogenesis
  • regulating cytoskeletal organization and cytokinesis
  • may be playing a functional role in platelet granular secretion
  • playing a role in the development of proliferative retinal membranes
  • SEPT3 and SEPT5 are dispensable for neuronal development as well as for synaptic vesicle fusion and recycling
  • SEPTIN5 has been known for some time as a developmentally down-regulated "inhibitor" of tight coupling, while UNC13C was found only recently to function as a developmentally up-regulated mediator of tight coupling
    • CELLULAR PROCESS cell cycle, division
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text cell shape and cell size control; cytoskeletal organization
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP binding
    • protein
  • binding to SEPT8
  • SEPTIN3 directly binds to SEPTIN5 and SEPTIN7 and forms a heteromeric complex at nerve terminals adjacent to where a synaptic vesicle marker, synaptophysin, is expressed in mature neurons
  • interacting with KIDINS220
  • interaction partner of SEPT11
    • cell & other
    REGULATION
    Other degradated by PARK2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in DiGeorge syndrome and velocardiofacial syndromes
    tumoral fusion      
    fused with HRX (MLL)with t(11;22)(q23;q11.2)in adulte myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • both Sept4 and Sept5 null mice had similar auditory functions to their wild type littermates