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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
Corresponding disease
FFEVF3 familial focal epilepsy with variable foci, 3
Location 16p13.3      Physical location : 135.805 - 188.672
Genatlas name conserved gene telomeric to alpha globin cluster
Synonym name
  • minus 14 gene (-14), including the HS-40 regulatory element of HB-NA@ (see LCRA)
  • alpha-globin regulatory element-containing gene protein
  • protein CGTHBA
  • chromosome 16 open reading frame 35
  • conserved gene telomeric to alpha globin cluster
  • Synonym symbol(s) M14, C16orf35, CGTHBA, FFEVF3, HS-40, MARE, NPR3, RMD11
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping
    text overlapping the major regulatory element of the HB6a@,40kb upstream of the 5'utr end of the cluster
    STRUCTURE 52.90 kb     14 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2753 - 390 - 2009 19666006
  • exclusion of exons 4 and 5 introduces a stop codon after the first AUG, so the predicted protein starts from an internal AUG located in exon 6
  • 14 - 2713 56 569 - 2009 19666006
    13 - 2938 - 544 - 2009 19666006
    12 - 2970 - 544 - 2009 19666006
    15 - 2875 - 491 - 2009 19666006
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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