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FLASH GENE
Symbol UBE3B contributors: mct - updated : 12-01-2013
HGNC name ubiquitin protein ligase E3B
HGNC id 13478
Corresponding disease
BPID blepharophimosis-ptosis-intellectual-disability syndrome
Location 12q24.11      Physical location : 109.915.438 - 109.974.506
Synonym name ubiquitin protein ligase,HECT-domain E3 ligase
Synonym symbol(s) FLJ45294, MGC78388, MGC131858, DKFZp586K2123, DKFZp686A1051
EC.number 6.3.2.-
DNA
TYPE functioning gene
STRUCTURE 59.08 kb     28 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 splicing 5753 - 1068 - 2003 12837265
  • encoded by 5.7-kb mRNA lacked exon 20
  • 28 - 5404 - 1068 - 2003 12837265
    9 - 1491 - 244 - 2003 12837265
    9 - 1158 - 244 - 2003 12837265
    9 - 1146 - 244 - 2003 12837265
    29 - - - - - 2003 12837265
  • contained a 97-bp insertion encoded by exon 20 that introduced an in-frame stop codon
  • lacking the HECT domain and would be nonfunctional, since the HECT domain constitutes the active site for ubiquitin transfer
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Lymphoid/Immunethymus    
    Nervousbrain    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N-terminal IQ domain
  • one C-terminal complete HECT domain, crucial for the function of E3 ubiquitin ligases because they mediate both the binding of an E2 ubiquitin-conjugating enzyme through their large N-terminal subdomain and the transfer of ubiquitin to the substrate
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Ube3b (92.3pc)
    ortholog to C. elegans Oxi-1
    intraspecies homolog to KIAA0010
    Homologene
    FAMILY
  • E3 ubiquitin-conjugating enzyme family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in protein modification and ubiquitin cycle
  • playing a role in either the classic stress response or the stress response invoked by oxidative damage following noise overstimulation
  • accepting ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates
  • involved in protein degradation by the UPS (Ubiquitin/Proteasome-Mediated system) and might be especially required under oxidative stress conditions
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BPID
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ube3b-/- mice have anomalies of brain size that may reflect the small head circumference/microcephaly seen in affected individuals with the BPID syndrome caused by UBE3B mutations