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FLASH GENE
Symbol TBC1D3 contributors: mct - updated : 03-04-2019
HGNC name TBC1 domain family, member 3
HGNC id 19031
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 10.88 kb     14 Exon(s)    2 Copie(s)
10 Kb 5' upstream gene genomic sequence study
text structure
  • two copies located within a cluster of chemokine genes on chromosome 17q
  • representing the more centromeric copy
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2072 62 549 - -
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly
    Digestiveintestinesmall intestine   
     liver   moderately
    Endocrinepancreas    
    Lymphoid/Immunelymph node   highly
     spleen    
    Nervousbrain    
    Reproductivefemale systemovary   
     male systemtestis  predominantly
    Respiratorylung   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines breast cancer cell lines MDAMB330, ZR75-30, BT474, AlaB
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a GTPase-activating protein (GAP) catalytic core motif found in various Rab/Ypt GAPs, including RN-Tre
  • a TBC domain
  • HOMOLOGY
    intraspecies homolog to USP6
    Homologene
    FAMILY
  • peptidase family m1
  • CATEGORY regulatory , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    basic FUNCTION
  • involved in proteolytic events essential for cell growth and viability
  • may be acting as regulator of neuropeptide activity
  • activating RAB5 GTPase activity, which is required for its oncogenic function and playing an essentiel role in early endosome fusion
  • enhancing EGF activation of the Erk and protein kinase B/Akt pathways
  • suppressing polyubiquitination of the EGFR and the recruitment of c-Cbl
  • enhancing Ras activation in quiescent cells
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting directly with RAB5
  • TBC1D3 recruits F-box 8 (FBXW8), the substrate recognition domain of CUL7 E3 ligase
  • serum- and growth factor-stimulated TBC1D3 ubiquitination and degradation are regulated by its interaction with CUL7-FBXW8
  • cell & other
    REGULATION
    Other enhanced by epidermal growth factor (EGF)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification --over  
    in metastatic prostate tumors and in some breast cancer cell lines
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS