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FLASH GENE
Symbol FZR1 contributors: mct - updated : 25-09-2024
HGNC name fizzy/cell division cycle 20 related 1 (Drosophila)
HGNC id 24824
Corresponding disease
DEE109 developmental and epileptic encephalopathy 109
Location 19p13.3      Physical location : 3.506.294 - 3.536.755
Synonym name
  • fizzy related protein
  • frog fizzy related protein
  • CDC20 homolog 1
    • Synonym symbol(s) HGNC24824, FZR, FZR2, HCDH, HCDH1, KIAA1242, CDH1
    DNA
    TYPE functioning gene
    STRUCTURE 32.02 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 5178 - 493 - 2000 10793135
    11 - 3170 - 404 - 2000 10793135
    12 - 3446 - 496 - 2000 10793135
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		seven WD repeats (Trp-Asp domains)
    HOMOLOGY
    interspecies homolog to yeast cdh1/hct1
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    intracellular,nuclear envelope
    basic FUNCTION
  • essential for cyclosome activity in G1
  • activating the anaphase promoting complex (APC) by promoting APC cyclin ubiquitination activity
  • targeting specific substrates lacking the D box in G1 (such as polo-like kinase for ubiquitination)
  • APC/C coactivator protein involved in ubiquitination and down-regulating the stability of TRIB3 protein
  • is an essential regulator of spermatogonial proliferation and early meiotic prophase I in both male and female germ cells and is therefore important in establishing the reproductive health of adult male and female mammals
  • FZR1 regulates E2F1 degradation in response to differentiation signals in keratinocytes
  • reciprocal suppression mechanism between FZR1 and BRAF in controlling tumorigenesis
  • reciprocal feedback circuit of FZR1 and SRC in the crosstalk between the cell cycle machinery and the SRC signaling pathway
  • FZR1-FOXM1-APC axis functions as a key regulator of muscle development and regeneration
    • CELLULAR PROCESS cell cycle
    protein, degradation
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS development
    text
  • substrate-specific APC/C activators
  • controlling axonal growth and the patterning of mammalian brain
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • APC/C complex
  • mediating its own degradation
  • MAK associates with FZR1, and phosphorylates FZR1 at sites phosphorylated by cyclin-dependent kinases
  • is an activator of the Anaphase promoting complex/cyclosome (APC/C) and an important regulator of the mitotic cell division cycle
  • FZR1 is a direct target of ERK and CYCLIN D1/CDK4 kinases
  • FZR1 suppresses AURKA activity in interphase and is critically required for assembly of the interphase mitochondrial network after mitosis
  • FZR1 ubiquitinates IDH2, a major NADPH-producing enzyme in mitochondria contributing to ROS increase in mitosis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEE109
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS