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FLASH GENE
Symbol DEPDC5 contributors: mct - updated : 12-12-2023
HGNC name DEP domain containing 5
HGNC id 18423
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
a DEP domain
HOMOLOGY
interspecies homolog to murine Depdc5 (94.3pc)
Homologene
FAMILY
CATEGORY signaling
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,lysosome
intracellular,cytoplasm,cytosolic
intracellular,nuclear envelope
basic FUNCTION
  • is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex
  • DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons
  • key role of DEPDC5 in shaping dendrite and spine morphology of excitatory neurons
  • 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
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FPEVF2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    with YWHAH, C22ORF24, in glioblastomas
    Susceptibility to hepatocellular carcinoma in chronic hepatitis C virus carriers
    Variant & Polymorphism SNP
  • intronic SNP in the DEPDC5 locus on chromosome 22 associated with hepatocellular carcinoma in chronic hepatitis C virus carriers
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyepilepsy 
    is an attractive therapeutic target in focal epilepsy
    ANIMAL & CELL MODELS
  • Depdc5 neuronal-specific knockout mice are resistant to the protective effects of fasting on seizures or seizure-induced death