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FLASH GENE
Symbol TBC1D20 contributors: mct - updated : 17-10-2023
HGNC name TBC1 domain family, member 20
HGNC id 16133
Corresponding disease
CMRH2 cataract-mental retardation-hypogonadism 2
Location 20p13      Physical location : 416.125 - 443.187
Synonym name chromosome 20 open reading frame 140
Synonym symbol(s) dJ852M4.2, C20orf140, FLJ45119, WARBM4
DNA
TYPE functioning gene
STRUCTURE 27.06 kb     8 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 4456 46 403 - 2007 17901050
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis  highly Homo sapiens
Skin/Tegumentskin    
cells
SystemCellPubmedSpeciesStageRna symbol
ReproductiveSertoli cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • Rab-GAP TBC (Tre-2/Bub2/Cdc16) domains, present in most known Rab GTPase-activating proteins
    • HOMOLOGY
    interspecies homolog to rattus Rn 4S972
    homolog to murine 28104420 16 Rik
    homolog to Drosophila CG17883
    homolog to C.elegans Y54E2A.12
    Homologene
    FAMILY TBC1 domain family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nuclear envelope
    text
  • testis-abundant expression pattern
    • basic FUNCTION
  • GAP for RAB1 that facilitates COPII-mediated ER-to-Golgi trafficking
  • first known GAP for RAB1A, which is implicated in the regulation of anterograde traffic between the endoplasmic reticulum and the Golgi complex
  • ER protein that, via its GAP regulation of RAB1, facilitates ER-to-Golgi trafficking and organization of the Golgi complex
  • is indispensable for proper lipid droplet (LD) formation
  • TBC1D20, via its RAB1B GAP function, is a key regulator of autophagosome maturation, a process required for maintenance of autophagic flux and degradation of autophagic cargo
  • TBC1D20 has an essential role in the maturation of autophagosomes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • first known GAP for RAB1, which is implicated in the regulation of anterograde traffic between the endoplasmic reticulum and the Golgi complex
  • RAB18 is likely a physiological substrate of TBC1D20 and contribute to a model in which a Rab-GAP can be essential for the activity of a target Rab
  • TDRD7 might directly bind to TBC1D20 mRNAs and downregulate its expression, which is a key regulator of autophagosome maturation, resulting in the disruption of autophagosome maturation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMRH2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tbc1d20-deficient mice, while not mimicking severe developmental brain abnormalities identified in WARBM4 (CMRH2) affected children, display disrupted neuronal autophagic flux resulting in adult-onset motor dysfunction
  • Tbc1d20 deficiency in Sertoli cells may also contribute to the infertility phenotype in 'blind sterile' male mice