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FLASH GENE
Symbol CASC5 contributors: mct - updated : 18-05-2011
HGNC name cancer susceptibility candidate 5
HGNC id 24054
Corresponding disease
MCPH4 microcephaly 4
Location 15q15.1      Physical location : 40.886.446 - 40.954.881
Synonym name
  • AF15Q14 protein
  • cancer/testis antigen 29
  • kinetochore null 1 homolog (C. elegans)
  • blinkin, bub-linking kinetochore protein
  • ALL1-fused gene from chromosome 15q142
  • Blinkin
  • Synonym symbol(s) D40, AF15Q14, KIAA1570, CT29, hKNL-1, KNL1, hSpc105
    DNA
    TYPE functioning gene
    STRUCTURE 68.44 kb     27 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 splicing 7685 265.2 2342 - 2008 18045986
    26 splicing 7607 262.4 2316 - 2008 18045986
    - splicing 5413 195.3 1746 - 2008 18045986
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  predominantly
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemtestis  predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid
    Reproductivespermatocyte
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period embryo, fetal
    Text
  • stem cells
  • ubiquitous in fetal tissues
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • distinct and essential binding domains for BUB1 and BUB1B (here designated Bubs) at the N terminus
  • a conserved motif directly interacting with and targeting protein phosphatase 1 (PP1) to the outer kinetochore (
  • a C terminal bipartite nuclear localization signal, with essential binding domains for ZWINT and NSL1
  • HOMOLOGY
    interspecies homolog to rattus Rad51_predicted
    homolog to murine Casc5
    Homologene
    FAMILY Spc105/Spc7/KNL-1 family
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome,kinetochore
    text acrosome
    basic FUNCTION
  • playing in important roles in spermatogenesis, especially in the formation and maintenance of the acrosome
  • may function normally to suppress cell growth and/or enhance maturation
  • centromeric form may be the base to anchor the MIS12 core complex that is enriched with coiled coils and extends to outer ZWINT during mitosis
  • may be the center of the network for generating kinetochore-based checkpoint signaling
  • CASC5 and CENPK, a subunit of a constitutively centromere-associated complex, coordinately direct NDC80 complex localization and kinetochore assembly
  • mixed-lineage leukemia (MLL) fusion partner and a kinetochore component
  • microtubule binding by CASC5 functions in checkpoint silencing by sensing microtubules attached to kinetochores and relaying their presence to eliminate generation of the checkpoint signal
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NDC80, MIS12, and CASC5 complexes form the core of the KMN network
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • directly links spindle checkpoint proteins BUB1B and BUB1 to kinetochores and is required for spindle checkpoint and chromosome alignment
  • directly binds to several structural and regulatory proteins
  • cell & other
    REGULATION
    Other phosphorylation by Aurora B disrupts the CASC5-PP1 interaction
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    fused to MLL by t(11;15) (q23;q14) in acute myeloid leukemia
    tumoral     --over  
    in lung cancer of smockers
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS