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FLASH GENE
Symbol KATNB1 contributors: mct/npt - updated : 10-12-2019
HGNC name katanin p80 (WD repeat containing) subunit B 1
HGNC id 6217
Corresponding disease
LIS6 lissencephaly 6, with microcephaly
Location 16q21      Physical location : 57.769.659 - 57.791.162
Synonym name
  • katanin (80 kDa)
  • katanin p80 WD40-containing subunit B1
    • Synonym symbol(s) KAT
    DNA
    TYPE functioning gene
    STRUCTURE 21.53 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site
    text structure
  • a 518- bp TATA-less promoter including a critical CpG island and GC boxes as an optimal promoter, and sequential deletion of CpG island and the GC elements gradually decreased the KATNB1 promoter activity
    • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 2661 80 655 - 2012 22654669
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell Homo sapiens
    Reproductivespermatid Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal WD40 repeat domain
  • a C terminal microtubule binding domain
    • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • WD repeat KATNB1 family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus
    text
  • present during spermatid development, and in particular localized to the microtubules of the manchette, a structure required for sperm head shaping
  • shuttles between the nucleus and spindle pole in synchrony with the cell cycle
    • basic FUNCTION
  • targeting the p60 subunit KATNA1 to the centrosome
  • is essential for male fertility
  • KATNB1, most likely in association with KATNA1, has an essential role in male meiotic spindle assembly and dissolution and the removal of midbody microtubules and, thus, cytokinesis
  • serves an essential and evolutionarily conserved role in several aspects of male germ cell development
  • consists of multiple domains with different functions such as targeting KATNA1 to the centrosome, augmenting microtubule severing by KATNA1, and even suppressing microtubule severing
  • functions for KATNB1 in regulating overall centriole, mother centriole, and cilia number, and as an essential gene for normal Hedgehog signaling during neocortical development
  • role in spindle formation
  • KATNB1 regulates microtubule (MT) remodeling in combination with NUMA1 (nuclear mitotic apparatus protein) and cytoplasmic dynein
  • KATNB1 function is a critical regulator of heart development
    • CELLULAR PROCESS cell cycle, division, mitosis
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text assembly and function of the mitotic spindle
    PATHWAY
    metabolism
    signaling
    a component
  • dimerizing with KATNA1 (p60)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • spindle-pole proteins
  • interacting with LZTS2 (participates in cytokinesis by interacting with KATNB1, the disruption of which may potentially cause genetic instability and cancer) (Sudo 2007)
  • interaction with NDEL1 (essential for mitotic cell division and neuronal migration not only via regulation of cytoplasmic dynein function but also by modulation of KATNB1 localization and function) (Toyo-Oka 2005)
  • ELK1 activated KATNB1 promoter
  • KATNAL2 can partner with the regulatory protein KATNB1 or act autonomously
    • cell & other
    REGULATION
    Other regulated by CUL3/KLHDC5 E3 ligase (regulatory mechanism that occurs at the level of targeted proteolysis to allow normal mitotic progression in cells) (Cummings 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) LIS6
    Susceptibility
    Variant & Polymorphism other
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • loss of Katnb1 in mice confirms essential roles in neurogenesis and cell survival