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FLASH GENE
Symbol WRAP53 contributors: mct/npt/pgu - updated : 02-03-2012
HGNC name WD repeat containing, antisense to TP53
HGNC id 25522
Corresponding disease
DKCB3 dyskeratosis congenita-3, autosomal recessive
Location 17p13.1      Physical location : 7.589.388 - 7.606.819
Synonym name
  • telomerase Cajal body protein 1
  • WD repeat domain 79
  • WD40 protein Wrap53
    • Synonym symbol(s) DKCB3, TCAB1, FLJ10385, WDR79
    DNA
    TYPE functioning gene
    STRUCTURE 17.43 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1982 59 548 - 2009 19250907
    11 - 1837 59 548 - 2009 19250907
    11 - 1847 59 548 - 2009 19250907
    11 - 1896 59 548 - 2009 19250907
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemuteruscervix highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • WD repeats
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text
  • enriched in Cajal bodies, nuclear sites of ribonucleoprotein modification and assembly, and is required for trafficking of telomerase to Cajal bodies
    • basic FUNCTION
  • natural antisense transcript of TP53, that regulates endogenous TP53 mRNA levels and further induction of TP53 protein by targeting the 5' untranslated region of TP53 mRNA
  • controls telomerase trafficking and is required for telomere synthesis in human cancer cells
  • essential for TERC localization to Cajal bodies and for telomere synthesis by telomerase
  • essential factor for Cajal body maintenance and for directing the survival of motor neuron (SMN) complex to Cajal bodies
  • mediates the interaction between SMN and associated proteins, which is important for nuclear targeting of SMN and the subsequent localization of the SMN complex to Cajal bodies
  • telomerase holoenzyme protein that facilitates trafficking of telomerase to Cajal bodies
  • protein essential for Cajal body formation and involved in cellular trafficking of the survival of motor neuron complex, the telomerase enzyme and small Cajal body-specific RNAs to Cajal bodies
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associates with active telomerase enzyme, established telomerase components, and small Cajal body RNAs that are involved in modifying splicing RNAs
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DKCB3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    correlate with poor prognosis of head and neck cancer
    constitutional       loss of function
    loss of WRAP53-mediated SMN trafficking contributes to spinal muscular atrophy (
    Susceptibility to ER negative breast cancers
    Variant & Polymorphism other common variation in TP53 or WRAP53 could be associated with ER negative breast cancers
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    novel molecular target for a large fraction of malignancies
    ANIMAL & CELL MODELS