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FLASH GENE
Symbol TBC1D23 contributors: mct - updated : 17-10-2017
HGNC name TBC1 domain family member 23
HGNC id 25622
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • conserved TBC domain known to inactivate RABs by accelerating their GTPase activity and thus promoting their inactive GDP-bound state
  • a rhodanese domain
  • a region in TBC1D23 (469–570 aa), C-terminal to the TBC1 and Rhodanese domains, is responsible for its targeting to the trans-Golgi
    • HOMOLOGY
    Homologene
    FAMILY
  • TBC domain protein family
  • family of Tre2-Bub2-Cdc16 (TBC) domain-containing Rab-specific GTPase-activating proteins
    • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • is a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin-signaling pathways
  • exerts its inhibitory effect on innate immunity signaling in a spatiotemporal fashion
  • RAB-GAP that inhibits innate immunity
  • RAB-independent trafficking role of TBC1D23 that may be critical during hindbrain formation, but not contributory to degeneration
  • is likely required for correct cortical development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • likely acts downstream of the TLR-signaling adaptors MYD88 and TICAM2 and upstream of the transcription factor XBP1
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PCH11
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS