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FLASH GENE
Symbol TRIM50 contributors: mct - updated : 17-03-2017
HGNC name tripartite motif-containing 50
HGNC id 19017
Corresponding disease
WBS Williams Beuren syndrome
Location 7q11.23      Physical location : 72.726.534 - 72.742.085
Synonym name
  • tripartite motif-containing 50A
  • E3 ubiquitin ligase
    • Synonym symbol(s) TRIM50A, FLJ32804, MGC138359, MGC138357
    EC.number 6.3.2.-/ 2.3.2.27
    DNA
    TYPE functioning gene
    STRUCTURE 15.55 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D7S653 - D7S672 - TRIM35 - D7S2476 - D7S2472 - qter
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2050 54.6 487 - 2014 24308962
    7 - 2047 - 486 - 2014 24308962
    7 - 1978 - 487 - 2014 24308962
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine   highly
     liver   highly
     mouthtongue  highly
     stomachmucous gland  highly Homo sapiens
    Nervousbrain   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivegastric Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a RING-type zinc finger
  • a B box-type zinc finger
  • a coiled-coil domain
  • a B30.2/SPRY domain
    • HOMOLOGY
    interspecies homolog to rattus Trim50 (87.6 pc)
    homolog to murine Trim50 (89.1 pc)
    intraspecies homolog to TRIM72
    Homologene
    FAMILY
  • TRIM/RBCC family
  • C-IV TRIM family
    • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text
  • TRIM50 resides likely in the cell interior canaliculi generated by tubulovesicular fusion during the stimulated phase
    • basic FUNCTION
  • acting as a E3-ubiquitin-protein ligase
  • catalyzing uquitination in presence of UBE2E2 through the Ring domain
  • TRIM50 localizes to and promotes the recruitment and aggregation of polyubiquitinated proteins to the aggresome
  • likely when the proteasome activity is impaired, TRIM50 fails to drive its substrates to the proteasome-mediated degradation, and promotes their storage in the aggresome for successive clearance
  • is likely involved in vesicular dynamics by sensing the phosphorylated state of phosphoinositol lipids
  • seems to play an essential role in tubulovesicular dynamics, promoting the formation of sophisticated canaliculi and microvilli during acid secretion in gastric parietal cells
  • TRIM50 and TRIM72 may exert similar biological roles in vesicular trafficking below the cell membrane in muscle and parietal cells, respectively
  • TRIM50 promotes the formation and clearance of aggresome-associated polyubiquitinated proteins through HDAC6 interaction, a tubulin specific deacetylase that regulates microtubule-dependent aggresome formation
    • CELLULAR PROCESS protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • TRIM50 colocalizes, interacts with and increases the level of SQSTM1, a multifunctional adaptor protein implicated in various cellular processes including the autophagy clearance of polyubiquitinated protein aggregates
  • TRIM50 may share similar biological functions with TRIM72 in vesicular trafficking
  • EP300 and KAT2B are two TRIM50 acetyltransferases and the balance between ubiquitination and acetylation regulates TRIM50 degradation
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Trim50 knock-out mice retained normal histology in the gastric mucosa but exhibited impaired secretion of gastric acid