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FLASH GENE
Symbol NPRL3 contributors: mct/npt - updated : 28-06-2017
HGNC name NPR3 like, GATOR1 complex subunit
HGNC id 14124
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to the yeast gene Npr3
intraspecies paralog to NPRL2
Homologene
FAMILY
  • UPF0171 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,PML
    text nuclear and cytosolic distribution, and can localize to PML nuclear bodies (Lunardi 2009)
    basic FUNCTION
  • inhibits cell proliferation in a dose-dependent manner
  • is required for normal development of the cardiovascular system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • DEPDC5, NPRL2 and NPRL3 are components of Gap Activity TOward Rags 1 (GATOR1), a complex involved in the inhibition of the mTOR complex 1 (MTOR)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with human TP73 (can modulate differentially the specific activities of selected TP73 isoforms) (Lunardi 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FFEVF3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    inhibit cell proliferation (Lunardi 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • is a candidate gene for harbouring mutations in individuals with developmental abnormalities of the cardiovascular system
  • Marker
    Therapy target
    ANIMAL & CELL MODELS