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FLASH GENE
Symbol SEPTIN12 contributors: mct - updated : 09-10-2015
HGNC name septin 12
HGNC id 26348
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a conserved GTP-binding motif at its N-terminus
    • HOMOLOGY
    interspecies homolog to murine Sept12 (87.4 pc)
    Homologene
    FAMILY
  • septin family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text
  • in mature human spermatozoa, SEPT12 and NDC1 are majorly colocalized in the centrosome regions; however, NDC1 is only slightly co-expressed with SEPT12 at the annulus of the sperm tail
    • basic FUNCTION
  • may be involved in mammalian fertility
  • filament-forming GTP-binding protein involved in a variety of cellular process such as cytokinesis, exocytosis, and membrane dynamics
  • polymerizing GTP-binding protein required for many cellular functions, such as membrane compartmentalization, vesicular trafficking, mitosis, and cytoskeletal remodeling
  • its expression levels are critical for mammalian spermiogenesis
  • vital roles in sperm head shaping, nuclear DNA condensation, and early embryonic development
  • testis-specific gene critical for the terminal differentiation of male germ cells
  • vital roles of SEPT12 in sperm nuclear integrity and tail development
  • SEPTIN12-microtubule complexes are critical for sperm formation during spermiogenesis
  • is likely vital for the formation of sperm morphological characteristics during spermiogenesis
    • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • SEPT12-NDC1 complexes are involved in mammalian spermiogenesis
    • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • GTP
    • protein
  • interacting with SEPT11 (GTP-binding by SEPT12 is required for interaction with SEPT11 but not with itself)
  • can interact with SEPT6, interaction independent of the coiled coil domain of SEPT6, and that may affect the septin filament structure
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPGF10
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in the testicular tissues of men with either hypospermatogenesis or maturation arrest
    constitutional germinal mutation     loss of function
    loss-of-function mutations in SEPT12 disrupted sperm structural integrity by perturbing septin filament formation
    constitutional germinal mutation      
    in oligozoospermia or teratozoospermia or both
    Susceptibility to to teratozoospermia
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS