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FLASH GENE
Symbol TBC1D23 contributors: mct - updated : 17-10-2017
HGNC name TBC1 domain family member 23
HGNC id 25622
Corresponding disease
PCH11 pontocerebellar hypoplasia, type 11
Location 3q12.1      Physical location : 99.979.685 - 100.044.078
Synonym name
  • HCV nonstructural protein 4A-transactivated protein 1
    • Synonym symbol(s) NS4ATP1, PCH11
    DNA
    TYPE functioning gene
    STRUCTURE 64.44 kb
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3886 - 699 primarily expressed in the fetal and adult brain and spinal cord 2017 28823706
    18 - 3841 - 684 - 2017 28823706
    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