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FLASH GENE
Symbol SASS6 contributors: mct - updated : 23-09-2016
HGNC name spindle assembly 6 homolog (C. elegans)
HGNC id 25403
Corresponding disease
MCPH14 microcephaly 14, primary
Location 1p21.2      Physical location : 100.549.103 - 100.598.511
Synonym name spindle assembly abnormal protein 6 homolog
Synonym symbol(s) SAS6, hSAS6, FLJ22097, MGC119440, DKFZp761A078
DNA
TYPE functioning gene
STRUCTURE 50.46 kb     17 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 3908 74 657 - 2011 21273447
16 - 3969 - 490 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a conserved N terminal PISA motif, and a and a second motif (motif II) that forms the beta hairpin beta6-beta7 that includes the protruding loop 8 , and N-terminus (AAs 1-166) of HsSAS-6, the domain known to be involved in formation of the central hub of the cartwheel, did not, however, exert any effect on microtubule polymerization
  • a central coiled-coil domain
  • a less conserved C-terminal region, C-terminal tail (AAs 470-657) of SASS6, the region that has been shown to extend toward the centriolar wall where the microtubule triplets are organized, nucleated and induced microtubule polymerization
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    basic FUNCTION
  • necessary for procentriole formation and that it localizes asymmetrically next to the centriole at the onset of procentriole formation
  • playing a fundamental role in driving the centrosome duplication cycle and ensuring genome integrity
  • might self-assemble to form the cartwheel hub and thereby dictate centriole symmetry
  • critical for centriole formation and thus for proper cell division
  • constitutes the center of the cartwheel assembly that scaffolds centrioles early in their biogenesis
  • plays an important role in the regulation of centriole duplication
  • possesses an intrinsic microtubule assembly promoting activity and its outer exposed C-terminal tail may play critical roles in microtubule assembly and stabilizing microtubule attachment with the centriolar cartwheel
  • self-assembly properties of SASS6 instruct cartwheel symmetry
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • cell-cycle-regulated SCF complex regulated by PLK4, and restricting centrosome re-duplication through degradation of the centriolar protein SASS6
  • head-to-head dimerization of SASS6 occurs in solution and is crucial for centriole formation
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FBXW5 binds SASS6 and promotes its ubiquitylation
  • FBXW5 is shown to control the degradation of the centriole assembly factor SASS6
  • STIL cooperates with SASS6 and PLK4 in the control of centriole number and represents a key centriole duplication factor in human cells
  • STIL is necessary for SASS6 recruitment to centrioles, suggesting that it is essential for daughter centriole formation
  • CEP135, directly interacts with SASS6 via its C-terminus and with MTs via its N-terminus
  • CEP63 and CEP152 cooperate to ensure efficient centriole duplication by promoting the accumulation of essential centriole duplication factors upstream of SASS6 recruitment and procentriole formation
  • 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 SASS6
  • CEP135 physically links to SASS6 near the site of microtubule nucleation and binds to CENPJ for triplet microtubule formation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    is involved in the pathogenesis of CRC and is associated with a poor prognosis among patients with colon cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS