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FLASH GENE
Symbol STIL contributors: mct - updated : 23-08-2014
HGNC name SCL/TAL1 interrupting locus
HGNC id 10879
Corresponding disease
MCPH7 microcephaly primary 7
Location 1p33      Physical location : 47.715.810 - 47.779.819
Synonym name
  • SCL interrupting locus
  • TAL1 (SCL) interrupting locus
    • Synonym symbol(s) RP1-18D14.8, DKFZp686O09161, SIL, MCPH7
    DNA
    TYPE functioning gene
    STRUCTURE 64.01 kb     18 Exon(s)
    MAPPING cloned   linked N status confirmed
    Map pter - D1S2797 - TAL1 TAL1 - PDZK1IP1 - D1S2603 - STIL - D1S2073E - D1S2879 - D1S417 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 5019 143 1288 - 2007 17576815
    17 - 5016 - 1287 - 2007 17576815
    19 - 4898 - 1223 - 2007 17576815
    19 - 5087 - 1241 - 2007 17576815
    18 - 5174 - 1270 - 2007 17576815
    18 - 5225 - 1287 - 2007 17576815
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain   highly Homo sapiensFetal
    Visualeyeretina  predominantly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal  
    Nervouscentral  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia Homo sapiens
    Visualcone photoreceptor Homo sapiens
    VisualMuller cell Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage proliferating cells
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text notochordal plate/floor plate, early embryonic development
    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