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FLASH GENE
Symbol CBY1 contributors: mct - updated : 21-09-2016
HGNC name chibby homolog 1 (Drosophila)
HGNC id 1307
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • nuclear localization signals(NLS)
  • a coiled-coil domain
  • C-terminal half of Cby adopts a coiled-coil structure through self-association
  • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • chibby family
  • CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • constitutively shuttles between the nucleus and cytoplasm
  • endogenous CBY1 protein is localized at the base of cilia
  • basic FUNCTION
  • may be a tumor suppressor gene, antagonizing WNT signaling
  • playing a role in regulating the intracellular trafficking of PKD2 and possibly of other intracellular proteins
  • novel proadipogenic factor required for adipocyte differentiation
  • potentially facilitating proper postnatal lung development and function
  • plays an antagonistic role in Wnt signaling by inhibiting the binding of CTNNB to TCF/Lef family proteins, a protein interaction that is essential for the transcriptional activation of Wnt target genes
  • also involved in regulating intracellular distribution of CTNNB
  • plays likely a role in the proper distribution of IFT particles to preserve normal ciliary morphology in airway ciliated cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component its homodimerization is required for its efficient interaction with the nuclear import receptor importin-alpha and subsequent nuclear translocation
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • the C-terminal region of beta-catenin (CTNNB1)
  • interacts with polycystin-2/PKD2 and GOLGA2
  • C8orf4 interacts with Chibby (CBY1) and thereby enhances the signaling pathway by relieving the antagonistic function of CBY1 on the beta-catenin-mediated transcription
  • cooperates with 14-3-3 adaptor proteins to facilitate nuclear export of beta-catenin, following phosphorylation of CBY1 by AKT1 kinase
  • physically interacts with the key downstream coactivator beta-catenin and represses its transcriptional activation potential
  • combinatorial action of CBY1 and 14-3-3 proteins controls the dynamic nuclear-cytoplasmic trafficking of beta-catenin
  • repressor of Wnt signaling, interacting with multiple NBPF proteins (NBPF1) (a coiled-coil region in the NBPF proteins interacts with the coiled-coil domain in the C-terminal region of CBY1)
  • direct downstream target for the master ciliogenesis transcription factor FOXJ1
  • CIBAR1, and CIBAR2 interact with CBY1 to promote ciliogenesis via regulation of membrane-remodeling processes
  • CEP164 is necessary for the proper recruitment of another distal appendage/transition fiber protein Chibby1 (CBY1) and its binding partners FAM92A and FAM92B to the ciliary base in multiciliated cells
  • DZIP1L interacts with, and acts upstream of, CBY1, an appendage protein, in ciliogenesis
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in thyroid and metastatic uterine tumor
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cby(-/-) mice exhibit a complete absence of mucociliary transport caused by a marked paucity of motile cilia in the nasal epithelium
  • loss of the basal body protein Chibby (Cby) results in chronic upper airway infection in mice due to a significant reduction in the number of airway cilia