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FLASH GENE
Symbol CEP164 contributors: mct/npt/pgu - updated : 02-02-2020
HGNC name centrosomal protein 164 kDa
HGNC id 29182
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY DNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
intracellular,nucleus,nucleoplasm
text could be localized to the distal appendages of mature centrioles, and persisted at centrioles throughout mitosis
basic FUNCTION
  • indispensable for primary cilia formation
  • mediator protein, having a critical role in G2/M checkpoint and nuclear divisions
  • key player in the DNA damage-activated signaling cascade
  • chromatin binding mediator protein functioning in ATR-mediated checkpoint activation upon UV damage
  • indispensable for the docking of vesicles at the mother centriole
  • is targeted to the apical domain of the mother centriole to provide the molecular link between the mother centriole and the membrane biogenesis machinery that initiates cilia formation
  • is a component of the distal appendages carried by the mother centriole that is required for primary cilium formation
  • CEP164 is critical for multiciliogenesis, at least in part, via its regulation of small vesicle recruitment, ciliary vesicle formation, and basal body docking
  • conserved role for CEP164 throughout the development of numerous organs
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with both ATR and ATM
  • interactions of INPP5E with several ciliary and centrosomal proteins, including a recently identified ciliopathy protein centrosomal protein 164 (CEP164)
  • components of the vesicular transport machinery, the GEF RAB3IP and the GTPase RAB8A, are interacting partners of CEP164
  • CEP83 specifically localizes to the distal end of the mother centriole and interacts with CEP164, a distal appendage component
  • one of the major functions of CEP164 in ciliogenesis is to recruit active TTBK2 to centrioles
  • TTBK2 has the potential to effectively phosphorylate CEP164 and CEP97 and inhibits the interaction between CEP164 and its binding partner DVL3 (an important regulator of ciliogenesis) in a kinase activity-dependent manner
  • CEP164 is necessary for the proper recruitment of another distal appendage/transition fiber protein Chibby1 (CBY1) and its binding partners CIBAR1 and CIBAR2 to the ciliary base in multiciliated cells
  • NME3 binds to several NPHPs, including NEK8, CEP164, and ankyrin repeat and sterile &
    • 945; motif domain-containing 6 (ANKS6)
  • RABL2A, RABL2B recruitment to the mother centriole is dependent on the distal appendage proteins CEP164 and CEP83
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP15
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    collecting duct-specific deletion of CEP164 abolished primary cilia from the collecting duct epithelium and led to rapid postnatal cyst growth in the kidneys
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • administration of roscovitine, a cell cycle inhibitor, blocked cyst growth in the cortical collecting ducts and preserved kidney parenchyma in Cep164 knockout mice