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FLASH GENE
Symbol PCNT contributors: mct/pgu - updated : 24-06-2011
HGNC name pericentrin
HGNC id 16068
Corresponding disease
MOPD2 microcephalic osteodysplastic primordial dwarfism type 2
SCKL3 Seckel syndrome 3
Location 21q22.3      Physical location : 47.744.035 - 47.865.681
Synonym name
  • kendrin
  • pericentrin 2 (kendrin)
  • pericentrin-B
  • pericentrin-380
  • Synonym symbol(s) KEN, PCN, PCNT2, PCNTB, PCTN2, KIAA0402
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem
    STRUCTURE 121.65 kb     47 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - PDXK - CSTB - D21S2056E - TMEM1 - C21orf33 - AIRE - C21orf2 - SUMO3 - ITGB2 - ADARB1 - COL18A1 - COL6A1 - COL6A2 - PCNT - S100B - qter
    Authors Flory (03)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 - 10573 378 3336 - 2003 12906865
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
     pancreasislet of Langerhans  highly Homo sapiens
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemtestis   
     male systemprostate   
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two large N-terminal coiled coil domains bounded by non coiled regions
  • large N-terminal coiled-coil domain of approximately 1,500 residues
  • a region with AAs 8-42 contains a tripartite nuclear localization signal (NLS) consisting of three clusters of basic amino acids
  • five novel nuclear export signals (NESs) with diverse export activities
  • NESs and NLS are essential for its subcellular localization and nucleocytoplasmic trafficking during the cell cycle
  • a smaller C-terminal coiled-coil domain of approximately 500 AAs, the PACT domain that targets it to the centrosome
  • HOMOLOGY
    interspecies homolog to murine pericentrin
    homolog to yeast Spc110
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • component of the filamentous matrix of the centrosome, of the pericentriolar material
  • colocalizes with IFT proteins to the base of primary and motile cilia
  • giant coiled-coil protein localized in the pericentriolar materials as an integral component, and serves as a multifunctional scaffold by anchoring numerous proteins and protein complexes
  • in skeletal muscle, showed a perinuclear distribution
  • basic FUNCTION
  • microtubule organization during cell division
  • required for assembly of the mitotic spindle apparatus
  • mediates the nucleation of microtubules by anchoring the gamma-tubulin ring complex, which initiates the assembly of the mitotic spindle apparatus
  • possible role of pericentrin in the development of cerebral vessels
  • MCPH1 and PCNT regulate mitotic entry
  • via centrosome-associated CHEK1
  • anchors NEK2 and suppresses its kinase activity at the centrosomes, and thus, is involved in the mechanism to prevent premature centrosome splitting during interphase
  • may play a pivotal role in preventing premature centrosome splitting during interphase by inhibiting Nek2A kinase activity at the centrosome
  • may regulate the intracellular distribution and secretion of insulin
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • integral constituent of the filamentous matrix of the centrosome
  • complexing with IFT20, PKD2 (complex required for assembly of primary cilia and possibly motile cilia and flagella)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PCM1
  • cleavage target of MMP14
  • UTP6 and kendrin (PCNT) provide sites for microtubule nucleation in the mammalian centrosome by anchoring TUBG1
  • DISC1ľkendrin (PCNT) interaction is indispensable for the centrosomal localization of DISC1
  • associates with NEK2, which exhibits considerably low activity
  • PLK1-mediated phosphorylation of pericentriolar matrix initiates centrosome maturation by organizing the spindle pole-specific PCM lattice
  • cell & other
    REGULATION
    Phosphorylated by specifically phosphorylated by PLK1 during mitosis
    ASSOCIATED DISORDERS
    corresponding disease(s) SCKL3 , MOPD2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in carcinoma cell lines
    constitutional        
    depletion of PCNT induces premature centrosome splitting in interphase
    constitutional       loss of function
    pericentrin deficiency does not impair proximal insulin action in adipocytes
    constitutional     --over  
    in beta-cells resulted in aggregation of insulin-containing secretory vesicles with cytoplasmic, but not centrosomal, pericentriolar material and an increase in total levels of intracellular insulin
    constitutional        
    lack of MCPH1 or PCNT results in a loss of CHEK1 from centrosomes with subsequently deregulated activation of centrosomal cyclin B-CDK1
    Susceptibility to bipolar affective disorder
    Variant & Polymorphism
    Candidate gene for dyslexia
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabete  
    target for modulating regulated protein secretion in disorders such as diabetes
    ANIMAL & CELL MODELS