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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
    Physical map
    CHST8 19q13.1 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 KCTD15 19q13.12 potassium channel tetramerisation domain containing 15 LOC390917 19 similar to ribosomal protein S4 LOC126235 19q13.12 similar to ribosomal protein S4, X-linked LOC390918 19 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein DKFZP434D1335 KIAA0355 19q13.12 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein GPI 19q13.1 glucose phosphate isomerase MGC13096 19q13.12 hypothetical protein MGC13096 UBA2 9q12 hypothetical protein MGC13096 LOC126374 19q13.12 similar to LIM domains containing 1 LOC390919 19 similar to ZNF140-like transcription factor LOC390920 19 similar to zinc finger protein 2 ZNF302 19q13.2 zinc finger protein 302 LOC390921 19 similar to Major allergen I polypeptide chain 1 major form precursor (Allergen Fel d 1-A) (Fel d I-A) (Allergen Cat-1) (Fel dI) (AG4) ZNF181 19q13.1-q13.3 zinc finger protein 181 (HHZ181) FLJ30663 19q13.13 hypothetical protein FLJ30663 LOC390922 19 similar to FLJ38451 protein LOC390923 19 similar to zinc finger protein 113 LOC342885 19q13.13 similar to ABO histo-blood group B transferase DKFZp686N19164 FLJ38451 19q13.13 FLJ38451 protein KIAA1533 19q13.13 KIAA1533 SCN1B 19q13.1 sodium channel, voltage-gated, type I, beta HPN 19q13.1 hepsin (transmembrane protease, serine 1) LOC339320 19q13.13 similar to tectorin alpha precursor; Tectorin, alpha FXYD3 19q13.13 FXYD domain containing ion transport regulator 3 LGI4 19q13.12 leucine-rich repeat LGI family, member 4 FXYD1 19q13.1 FXYD domain containing ion transport regulator 1 (phospholemman) FXYD7 19q13.13 FXYD domain containing ion transport regulator 7 FXYD5 19q12-q13.1 FXYD domain containing ion transport regulator 5
    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