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FLASH GENE
Symbol UBA2 contributors: SGE/npt/ mct - updated : 07-05-2019
HGNC name ubiquitin-like modifier activating enzyme 2
HGNC id 30661
Corresponding disease
ACCDA aplasia cutis congenita, with Duane anomaly
Location 19q13.11      Physical location : 34.919.267 - 34.960.797
Synonym name
  • SUMO-1 activating enzyme subunit 2
  • ubiquitin-like 1-activating enzyme E1B
  • anthracycline-associated resistance ARX
  • UBA2, ubiquitin-activating enzyme E1 homolog (yeast)
  • sentrin (UBL1) activating protein component with AOS1(SAE1) and UBL1
    • Synonym symbol(s) SAE2, HRIHFB2115, UBLE1B, FLJ13058, ARX
    EC.number 6.3.2.-/ 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 41.53 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 2682 71 640 - 2018 30387828
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly
    Digestivemouthtongue  predominantly
     stomach   moderately
    Reproductivefemale systemuteruscervix moderately
     male systemtestis  moderately
    Visualeye     Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated PhosphoP
    mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Uba2 (94.4pc)
    homolog to rattus Uba2 (91.2pc)
    Homologene
    FAMILY
  • ubiquitin-activating E1 family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus,nucleoplasm
    text UBA2 was highly concentrated in both cytoplasm membrane, cytoskeleton and nucleus of all ocular cell lines
    basic FUNCTION
  • required for activation of UBL1
  • acting as a UBL1 E1 ligase for SUMO1, SUMO2, SUMO3 and probably SUMO4
  • mediating ATP-dependent activation of UBL1 and formation of a thiolester with a conserved cysteine residue on UBA2
  • acting as an enzyme activator
  • could potentially be used to antagonize Vif-mediated APOBEC3G degradation by preventing polyubiquitination and thus inhibits HIV-1 replication (Li 2008)
  • demonstrated to serve an essential role in the proliferation of colorectal cancer
  • plays a vital role in gastric cancer cell migration and invasion, possibly by regulating the WNT/CTNNB1 signaling pathway and epithelial-mesenchymal transition (EMT)
  • basic component of E1-activating enzyme in the SUMOylation system
  • was a critical cell cycle and proliferation regulator
    • CELLULAR PROCESS protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    first step of UBL1 conjugation
    a component
  • heterodimer of SAE1 and UBAE2, fonctioning as a SUMO-activating enzyme for sumoylation of proteins
  • UBA2 forms a tight heterodimer with SAE1 and it controls the trafficking of the heterodimer
    • INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP
  • Mg2+
    • protein
  • UBL1
  • UBA2 interacts with both SUMO1 and SUMO2, both DPP8 and DPP9 showed a strong preference toward SUMO1 binding
    • cell & other
    REGULATION
    inhibited by adenoviral protein Gam1 interfering with the activity of E1 (SAE1/SAE2)
    ASSOCIATED DISORDERS
    corresponding disease(s) ACCDA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in non-small-cell lung cancer
    tumoral     --over  
    in gastric cancer
    tumoral fusion      
    UBA2-WTIP is an oncogenic fusion gene, in acute myeloid leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • plausible candidate genes for SHFM
    • Marker
  • may be a novel cancer marker in the non-small-cell lung cancer
  • may be used as a potential biomarker to predict prognosis in colorectal cancer
    • Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    therapeutic target in colorectal cancer
    cancerhemopathy 
    UBA2-WTIP fusion is a promising therapeutic target for the treatment of acute myeloid leukemia
    ANIMAL & CELL MODELS