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FLASH GENE
Symbol TRIM72 contributors: mct/npt/shn - updated : 20-03-2017
HGNC name tripartite motif-containing 72
HGNC id 32671
Location 16p11.2      Physical location : 31.225.341 - 31.236.510
Synonym name
  • tripartite motif containing 72, E3 ubiquitin protein ligase
  • tripartite motif-containing protein 72
  • mitsugumin-53
  • tripartite motif 72
  • Synonym symbol(s) MG53
    DNA
    TYPE functioning gene
    STRUCTURE 11.10 kb     7 Exon(s)
    regulatory sequence Promoter
    Binding site
    text structure
  • a MYEF2 site in the promoter, juxtaposed to E-box (Jung 2010)
  • MAPPING cloned Y linked N status provisional
    Map pter - D16S3022 - D16S3081 - TRIM72 - D16S753 - cen
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2152 52.5 477 - Martin (2004)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    Muscularstriatumcardiac   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 B30.2/SPRY domain
  • the RBCC motif is followed by the PRY-SPRY domain
  • two Zn(2+)-binding motifs with indispensable role to assembly of the cell membrane repair machinery
  • a C-terminal PRY-SPRY domain
  • HOMOLOGY
    interspecies ortholog to Trim72, Mus musculus
    ortholog to Trim72, Rattus norvegicus
    ortholog to TRIM72, Pan troglodytes
    intraspecies homolog to TRIM50
    Homologene
    FAMILY
  • TRIM/RBCC family
  • C-IV TRIM family
  • tripartite motif family protein
  • CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • localized in small vesicles below the plasma membrane
  • basic FUNCTION
  • an antagonist of insulin receptor substrate 1, and is essential as a negative regulator of IGF-induced muscle differentiation
  • muscle-specific TRIM family protein that is an essential component of the cell membrane repair machinery
  • is an essential component of the cell membrane repair machinery
  • has an essential role in membrane repair of striated muscle cells
  • TRIM50 and TRIM72 may exert similar biological roles in vesicular trafficking below the cell membrane in muscle and parietal cells, respectively
  • in addition to its role in vesicular trafficking, TRIM72 likely contributes to proteolysis of specific targets by catalyzing ubiquitination in the RBCC motif
  • E2 enzyme UBE2H and the E3 enzyme TRIM72 were up-regulated during myogenesis
  • UBE2H and TRIM72 complexes are required for PTK2 ubiquitination and degradation
  • essential role for TRIM72 in repair of alveolar epithelial cells under plasma membrane stress failure
  • essential component of the cell membrane repair machinery
  • trifunctional role for TRIM72 as a facilitator of rapid injury repair, a mediator of cell migration, and a modulator of myofibroblast differentiation during wound healing
  • TRIM72 directly and indirectly modulates caveolar endocytosis, an essential process involved in repair of lung epithelial cells through removal of plasma membrane wounds
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • PTK2 formed a complex with its E2 enzyme, UBE2H, and E3 enzyme, TRIM72
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MYH9 is a key cytoskeleton motor protein that facilitates vesicle trafficking during MG53-mediated cell membrane repair
  • binds to sarcoplasmic reticulum Ca(2+)-ATPase 1a (ATP2A1) via its tripartite motif (TRIM) and PRY domains
  • acts as an E3 ligase targeting the insulin receptor and IRS1 for ubiquitin-dependent degradation, comprising a central mechanism controlling insulin signal strength in skeletal muscle
  • TRIM72 is an ubiquitin E3 ligase that induces IRS1 ubiquitination with the help of an E2-conjugating enzyme, UBE2H
  • TRIM72 induces PTK2 ubiquitination with the aid of UBE2H during skeletal myogenesis
  • cell & other
    REGULATION
    Other is transcriptionally activated by the synergism of MYOD1 and MYEF2 (Jung 2010)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene could be a new candidate for the diagnosis and treatment of patients with Brody syndrome
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularmyopathy 
    great potential for the use of recombinant TRIM72 in treating muscular dystrophy and other diseases in which compromised membrane integrity contributes to the disease
    cardiovascularcardiomyopathy 
    . membrane reparative function provides an entirely new model for potential therapy of muscle and cardiovascular diseases, including muscular dystrophy, cardiomyopathy and age-related muscle wasting
    neuromuscularmyopathy 
    . membrane reparative function provides an entirely new model for potential therapy of muscle and cardiovascular diseases, including muscular dystrophy, cardiomyopathy and age-related muscle wasting
    diabetemetabolic syndrom 
    novel therapeutic target for treating metabolic disorders and associated cardiovascular complications
    ANIMAL & CELL MODELS
  • mice null for TRIM72 show progressive myopathy and reduced exercise capability, associated with defective membrane-repair capacity
  • remarkable defects in skin architecture and collagen overproduction are observed in mg53(-/-) mice, and these animals display delayed wound healing and abnormal scarrin