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FLASH GENE
Symbol UBE2H contributors: mct - updated : 20-03-2017
HGNC name ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
HGNC id 12484
Location 7q32.2      Physical location : 129.472.994 - 129.592.789
Synonym symbol(s) E2-20K, GID3, UBC8, UBCH, UBCH2
EC.number 2.3.2.23 /2.3.2.24
DNA
TYPE functioning gene
STRUCTURE 122.23 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • promoter region contains a functional NF-kappaB binding site
    • MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 5081 - 152 - 2000 10860668
    7 - 5174 - 183 - 2000 10860668
    7 - 4778 - 113 - 2000 10860668
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved UBC domain of 150AA harboring the cysteine residue required for enzyme-ubiquitin thioester formation
    • HOMOLOGY
    interspecies homolog to yeast UBC8
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • ubiquitin conjugating enzyme H2A
  • E2 enzyme of the ubiquitin-dependent proteolytic system
  • is an ubiquitin conjugating enzyme known to act on histones and cytoskeletal proteins, both involved in the degenerative pathway of the motor neuron
  • E2 enzyme UBE2H and the E3 enzyme TRIM72 were up-regulated during myogenesis
  • UBE2H and TRIM72 complexes are required for PTK2 ubiquitination and degradation
    • CELLULAR PROCESS cell cycle
    protein, degradation
    PHYSIOLOGICAL PROCESS development
    text brain
    PATHWAY
    metabolism
    signaling
    a component
  • PTK2 formed a complex with its E2 enzyme, UBE2H, and E3 enzyme, TRIM72
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activating PARK2
  • UBE2H is an E2 partner of TRIM72 for IRS1 ubiquitination
  • TAL1 expression activated UBE2H expression, whereas TAL1 knock-down reduced UBE2H expression and ubiquitin transfer activity
  • 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
    activated by PARK2
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to autism with developmental quotient higher than 30
    • Variant & Polymorphism SNP
  • significant association was found between the G allele and a subgroup of autistic patients with developmental quotient higher than 30
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS