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FLASH GENE
Symbol KCNQ1OT1 contributors: mct - updated : 26-04-2017
HGNC name KCNQ1 overlapping transcript 1 (non-protein coding)
HGNC id 6295
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal silencing domain also required to target the episomal vector to the perinucleolar compartment during mid-S phase
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • differentially methylated in oocytes at different stages of their development: germinal vesicle (GV), metaphase I (MI) or metaphase II (MII) (about 60 p100 of alleles were fully methylated in GV oocytes and full imprint is acquired in most MII oocytes)
  • implicated in long-range bidirectional silencing
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in later developmental stages, KCNQ1OT1 has a role in modulating KCNQ1 levels, since its absence leads to overexpression of KCNQ1
  • . epigenetic status of KCNQ1OT1 represents a critical determinant of the cell type-restricted expression of CDKN1C and, possibly, of its aberrant silencing in some pathological conditions
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BWS , IH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    hypo or hypermethylation incomplete in BWS patients, not associated with increased tumor risk (but increased frequence of midline abdominal-wall defects and macrosomia)
    constitutional   LOI    
    5' end hypomethylation in familial or sporadic cases of BWS (disturbing imprinting switch mechanism) and in liver, breast, cervical and gastric carcinoma
    constitutional   LOI    
    through factors interfering with normal oocyte differentiation such as gonadotrophin stimulation and in vitro maturation (IVM) (may possibly alter imprint resetting)
    constitutional       gain of function
    loss of methylation on the maternal allele correlated with loss of histone H3 lysine 9 methylation in BWS (50 percent of the cases)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS