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FLASH GENE
Symbol CROCC contributors: mct/npt/pgu - updated : 20-02-2018
HGNC name ciliary rootlet coiled-coil, rootletin
HGNC id 21299
Location 1p36.13      Physical location : 17.248.444 - 17.299.474
Synonym name
  • rootletin
  • Tax1-binding protein 2
  • dictyostelium discoideum myosin heavy chain kinase 6
  • rootletin, ciliary rootlet protein
  • Synonym symbol(s) MYHKB, MHCKB, KIAA0445, rootletin, ROLT, TAX1BP2
    DNA
    TYPE functioning gene
    STRUCTURE 51.03 kb     37 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    37 - 6656 228 2017 - 2005 16203858
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   lowly
    Reproductivemale systemprostate   
    Respiratorylung    
     respiratory tracttrachea  highly
    Urinarykidney   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a globular head domain
  • a tail domain consistiing of extended coiled-coil structures
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine rootletin
    intraspecies homolog to CEP2
    Homologene
    FAMILY
  • rootletin family
  • CATEGORY structural protein , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • in interphase, beta-catenin colocalizes with CROCC between CEP250 puncta at the proximal end of centrioles, and this localization is dependent on CEP250 and CROCC
  • located at the basal bodies and centrosomes in ciliated and nonciliated cells, respectively
  • AKAP9 spans the bridge between centrioles, co-localizing with CROCC and CEP68 in the linker region
  • basic FUNCTION
  • forming the ciliary rootlet
  • forms centriole-associated filaments and functions in centrosome cohesion
  • major structural component of the ciliary rootlet, that may function as a physical linker between the pair of basal bodies/centrioles by binding to CEP250
  • similar to CEP68, decorates fibres emanating from the proximal ends of centrioles and dissociates from centrosomes during mitosis
  • cooperates with CEP68 and CEP250 in centrosome cohesion
  • structural component of ciliary motility that is required for correct brain development
  • has a function in centrosome cohesion, in collaboration with its interactor CEP250
  • CEP250 or CROCC knockdown reduced primary cilium formation
  • may likely be important for the function of many non-photoreceptor cilia as well
  • tumor suppressor in hepatocellular carcinoma
  • is a novel effector of ATM in DNA damage response
  • interphase centrosomes are physically tethered by a proteinaceous linker composed of CEP250 and the filamentous protein rootletin (CROCC)
  • archetypal linker protein CROCC maintains centrosome cohesion in part through inhibition of VHL-mediated CEP68 degradation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • rootletin is the long-sought structural component of the ciliary rootlet
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with centrosomes (but increased NEK2 activity disrupts this interaction, resulting in binding of beta-catenin to CROCC-independent sites on centrosomes, an event that is required for centrosome separation)
  • is a CDK2-regulated tumor-suppressor gene in hepatocellular carcinoma and is a novel activator of the MAPK14/TP53/CDKN1A pathway
  • LRRC45 interacts with both CEP250 and CROCC and is phosphorylated by NEK2 at S661 during mitosis
  • direct phosphorylation substrate of ATM
  • absence of CROCC triggers the von Hippel-Lindau tumour suppressor protein (VHL)-mediated proteasomal degradation of CEP68 and, in turn, results in centrosome splitting
  • cell & other
    REGULATION
    Other phosphorylated by NEK2 kinase and is displaced from centrosomes at the onset of mitosis
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in cells caused multinucleation, micronucleation, and irregularity of nuclear shape and size, indicative of defects in chromosome separation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Rootletin mutant mice lack rootlets in ciliated cells but do not show major ciliopathy phenotypes during early stages of life