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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
Physical map
KIAA0789 12q24.11 protein phosphatase 1, catalytic subunit, gamma isoform LOC196469 12q24.11 similar to apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G; phorbolin-like protein MDS019 CMKLR1 12q24.1 chemokine-like receptor 1 HYPE 12q24.1 chemokine-like receptor 1 SART3 12q24.1 squamous cell carcinoma antigen recognised by T cells 3 NIFU 12-q24.1 squamous cell carcinoma antigen recognised by T cells 3 LOC338773 12q24.12 hypothetical protein LOC338773 SELPLG 12q24 selectin P ligand CORO1C 12q24.1 coronin, actin binding protein, 1C SSH1 12q24.12 slingshot 1 DAO 12q24.12 D-amino-acid oxidase DKFZp761H039 12q24.12 hypothetical protein DKFZp761H039 USP30 12q23.3 ubiquitin specific protease 30 LOC121642 12q24.12 similar to hypothetical protein 9530023G02 UNG 12q23-q24.1 uracil-DNA glycosylase LOC387883 12 LOC387883 ACACB 12q24.1 acetyl-Coenzyme A carboxylase beta FOXN4 12q24.12 forkhead box N4 LOC387884 12 LOC387884 FLJ37587 12q24.12 hypothetical protein FLJ37587 KCTD10 12q24.12 potassium channel tetramerisation domain containing 10 UBE3B 12q24.12 potassium channel tetramerisation domain containing 10 MMAB MVK 12q24 mevalonate kinase (mevalonic aciduria) MGC14436 12q24.12 hypothetical protein MGC14436 FLJ14721 12q24.12 hypothetical protein FLJ14721 TRPV4 12q24.1 transient receptor potential cation channel, subfamily V, member 4 GLTP 12q24.12 glycolipid transfer protein MGC10854 12q24.12 hypothetical protein MGC10854 GIT2 12q24.1 G protein-coupled receptor kinase-interactor 2 ANKRD13 12q24.12 ankyrin repeat domain 13 LOC144705 12q24.12 hypothetical gene supported by AF086409 CDV-1 12q24.13 carnitine deficiency-associated gene expressed in ventricle 1 ATP2A2 12q24.1 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 HMGA1L3 12q24.13 high mobility group AT-hook 1-like 3 ARPC3 12q24 actin related protein 2/3 complex, subunit 3, 21kDa MGC14560 12q24.13 protein x 0004 HSU79274 12q24.13 protein predicted by clone 23733 VPS29 12q24 vacuolar protein sorting 29 (yeast) RAD9B 12q24.13 RAD9 homolog B (S. cerevisiae) TA-PP2C 12q24.13 T-cell activation protein phosphatase 2C FLJ21127 12q24.13 hypothetical protein FLJ21127 MGC15619 12q24.13 hypothetical protein MGC15619 PPP1CC 12q24.1 protein phosphatase 1, catalytic subunit, gamma isoform
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