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FLASH GENE
Symbol DEPDC5 contributors: mct - updated : 12-12-2023
HGNC name DEP domain containing 5
HGNC id 18423
Corresponding disease
FPEVF2 familial partial epilepsy with variable foci 2
Location 22q12.2      Physical location : 32.150.068 - 32.303.000
Synonym symbol(s) DEP.5, KIAA0645, DEE111, FFEVF, FFEVF1, FPEVF, DKFZp779P2027
DNA
TYPE functioning gene
STRUCTURE 154.07 kb     43 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
42 - 5458 177.7 1572 - 2013 23542701
isoform 1
22 - 2460 63.6 559 - 2013 23542701
  • lacking several 3' exons
  • having an alternate 3' exon
  • isoform 2
  • 40 - 5155 - 1503 - 2013 23542701
    43 - 5551 - 1603 - 2013 23542701
    42 - 5382 - 1594 - 2013 23542701
    43 - 6437 - 1603 - 2013 23542701
    42 - 5353 - 1581 - 2013 23542701
    41 - 5185 - 1525 - 2013 23542701
    42 - 5335 - 1575 - 2013 23542701
    41 - 6320 - 1525 - 2013 23542701
    38 - 6488 - 1581 - 2013 23542701
    40 - 5448 - 1575 - 2013 23542701
    39 - 5439 - 1572 - 2013 23542701
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     thymus   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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