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FLASH GENE
Symbol STIL contributors: mct - updated : 23-08-2014
HGNC name SCL/TAL1 interrupting locus
HGNC id 10879
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a putative nuclear localization signal motif KKKTH
  • a cysteine- terminal domain
  • a coiled-coil region (STIL-CC)
  • HOMOLOGY
    interspecies homolog to murine Sil
    homolog to zebrafish nbb
    Homologene
    FAMILY
    CATEGORY structural protein , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • localizes to the poles of the mitotic spindle during metaphase
  • pericentriolar and centrosomal
  • localizes to the pericentriolar material surrounding parental centrioles
  • basic FUNCTION
  • required for axial development and left-right specification in mouse
  • playing a necessary role for proper mitotic spindle organization
  • oncogenic action through a dominant - negative mechanism
  • required for HH response
  • required for mitotic entry and cancer cell survival
  • role in derepressing GLI1 from the negative control of SUFU, which is a crucial step for activating Hh signaling in cancer cells
  • vertebrate-specific regulator of mitotic spindle assembly, and regulator of mitotic entry and cell survival
  • necessary role for proper mitotic spindle organization and localizes to the mitotic spindle poles only during metaphase
  • essential for centriole formation and for proper spindle position
  • required for centriole duplication
  • centrosomal protein that is essential for embryonic development and mutated in primary microcephaly
  • essential component of the centriole replication machinery in mammalian cells
  • play important roles in the regulation of vertebrate embryonic neural development and cancer cell proliferation
  • also playing important roles in neural protection
  • functional expression of STIL protects dopaminergic cells from toxin-induced apoptosis
  • involvement of STIL in retinal cell proliferation
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • STIL and CENPJ interact with each other and are required for procentriole formation, implying a central role of centriole biogenesis in microcephaly
  • cooperates with SASS6 and PLK4 in the control of centriole number and represents a key centriole duplication factor in human cells
  • necessary for SASS6 recruitment to centrioles, suggesting that it is essential for daughter centriole formation
  • interacts with the centromere protein CENPJ and rapidly shuttles between the cytoplasm and centrioles
  • removal or release of luminal SASS6 requires PLK4 and the cartwheel protein STIL
  • PLK4 activity promotes the recruitment of STIL to the centriole, and PLK4 primes the direct binding of STIL to the C terminus of SAS6
  • STIL protein interacts via its coiled-coil region (STIL-CC) with PLK4 mediating PLK4 activation as well as stabilization of centriolar PLK4 and plays a key role in centriole duplication
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with TAL1 in T cell acute lymphocytic leukemia
    tumoral     --over  
    in multiple cancers that correlated with the expression of mitotic spindle checkpoint genes and with increased metastatic potential
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    suitable target for novel anticancer therapy
    ANIMAL & CELL MODELS
  • sil-/-mice lack lefty 1 expression and have a bilateral expression of left-side specific genes
  • dominant mutation, night blindness b (nbb), causes a late onset of retinal dopaminergic cell degeneration in zebrafish