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FLASH GENE
Symbol CBY1 contributors: mct - updated : 21-09-2016
HGNC name chibby homolog 1 (Drosophila)
HGNC id 1307
Location 22q13.1      Physical location : 39.052.657 - 39.069.853
Synonym name
  • chibby
  • ARPP-binding protein
  • cytosolic leucine-rich protein
  • chromosome 22 open reading frame 2
  • polycystin-2 interactor, Golgi- and endoplasmic reticulum-associated protein, 14 kDa
  • PKD2 interactor, golgi and endoplasmic reticulum associated 1
  • coiled-coil protein PIGEA-14
  • Synonym symbol(s) CBY, c22orf2, PIGEA14, PIGEA-14, arb1, PGEA1, Chibby
    DNA
    TYPE functioning gene
    STRUCTURE 17.20 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1287 - 126 - 2003 12712206
    5 - 1147 14.4 126 - 2003 12712206
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
     mouthgingiva   
    Reproductivemale systemtestis   
    Respiratorylung    
    Urinarykidney    
    Visualeyelens   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelial    
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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