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FLASH GENE
Symbol TBC1D5 contributors: mct - updated : 28-04-2021
HGNC name TBC1 domain family, member 5
HGNC id 19166
Location 3p24.3      Physical location : 17.198.654 - 17.784.240
Synonym symbol(s) KIAA0210, TBC5
DNA
TYPE functioning gene
STRUCTURE 585.59 kb     24 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 6631 - 795 - 2018 30111580
isoform b
24 - 6513 - 817 - 2018 30111580
isoform a
22 - 7869 - 795 - 2018 30111580
isoform b
20 - 6299 - 659 - 2018 30111580
21 - 6365 - 681 - 2018 30111580
21 - 6369 - 795 - 2018 30111580
21 - 6435 - 817 - 2018 30111580
23 - 6533 - 681 - 2018 30111580
22 - 6487 - 802 - 2018 30111580
23 - 6265 - 817 - 2018 30111580
21 - 6423 - 659 - 2018 30111580
22 - 6493 - 795 - 2018 30111580
21 - 6364 - 659 - 2018 30111580
21 - 6430 - 681 - 2018 30111580
21 - 6434
23 - 6500 - 817 - 2018 30111580
22 - 6458 - 659 - 2018 30111580
23 - 6554 - 681 - 2018 30111580
22 - 6569 - 659 - 2018 30111580
22 - 6639 - 795 - 2018 30111580
23 - 6548 - 681 - 2018 30111580
24 - 6530 - 795 - 2018 30111580
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
Cardiovascularheart   highly
Nervousbrain    
 gangliasensory gangliadorsal root  
 spinal cord    
Reproductivefemale systemovary   
 female systemuterus   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
Nervouscentral   
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two LIR motifs and the N-terminal LIR was critical for interaction with the retromer complex and transport of cargo
  • a TBC domain
  • HOMOLOGY
    Homologene
    FAMILY
  • Rab GAP family of proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • putative GTPase activator protein of RAB-like small GTPase
  • retromer-interacting protein, negatively regulating VPS35/VPS29/VPS26A recruitment and causing RAB7A to dissociate from the membrane
  • and TBC1D5 are accessory/regulatory proteins of retromer-mediated retrograde trafficking from endosomes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • direct binding of the retromer component VPS29 to TBC1D5 could be titrated out by GABARAPL1, indicating a molecular switch between endosomes and autophagy
  • TBC1D5 controls cellular endomembrane trafficking processes and binds the retromer subunit VPS29 and the ubiquitin-like protein ATG8
  • TBC1D5 shuttling to autophagosomes during metabolic stress facilitates retromer-dependent SLC2A1 trafficking
  • inhibition of the GTPase activating protein TBC1D5 can enhance RAB7A activation and lead to a gain of function for retromer
  • TBC1D5 is a GAP for RAB7B in the control of endosomal transport to the trans-Golgi
  • ANKRD27 and TBC1D5 bind the same site on VPS29 and can compete for binding VPS29
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    causes defective retromer-dependent trafficking of receptors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS