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FLASH GENE
Symbol UBA5 contributors: mct - updated : 13-10-201
HGNC name ubiquitin-like modifier activating enzyme 5
HGNC id 23230
Corresponding disease
EIEE44 epileptic encephalopathy, early infantile, 44
SCAR24 spinocerebellar ataxia, autosomal recessive 24
Location 3q22.1      Physical location : 132.373.289 - 132.396.943
Synonym name
  • ubiquitin-activating enzyme E1-domain containing 1
  • UBA5, ubiquitin-activating enzyme E1 homolog (yeast)
  • UFM1- activating enzyme
    • Synonym symbol(s) FLJ23251, FLJ23251Uba5, UBE1DC1, THIFP1
    DNA
    TYPE functioning gene
    STRUCTURE 25.34 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 splicing 2866 - 348 - 2010 20368332
    12 splicing 3842 44 404 - 2010 20368332
    contains an additional segment in the 5' region and uses a downstream start codon
    10 - 3706 - 292 - 2010 20368332
    12 - 2992 - 348 - 2010 20368332
    10 - 2856 - 314 - 2010 20368332
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon  
    Reproductivemale systemtestis   
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an adenylation domain
  • AAs 364-404 were demonstrated to be necessary for the transthiolation of UFM1 to UFC1
  • UBA5 AA 381-404 was identified to be the minimal region for UFC1 recognition
  • a C-terminal region
    • HOMOLOGY
    interspecies homolog to murine Ube1dc1
    homolog to rattus LOC300968
    Homologene
    FAMILY
  • ubiquitin-activating E1 family
  • UBA5 subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • may have an oxidoreductase activity and be involved in L-serine biosynthesis
  • activate an ubiquitin-like protein, ubiquitin-fold modifier 1 (UFM1), by forming a high-energy thioester bond
  • essential role, as a specific activating enzyme for the ubiquitin-like modifier, UFM1, in erythroid development
  • dispensable for the production of erythropoietin, but its genetic loss led to impaired development of megakaryocyte and erythroid progenitors from common myeloid progenitors
  • smallest ubiquitin-like molecule-activating enzyme
  • E1-activating enzyme of ubiquitin-fold modifier 1 (UFM1), a recently identified ubiquitin-like protein
  • role of UBA5 dimerization in UFM1 activation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    UFM1-UBA5-UFC1 ubiquination pathway
    a component
  • fusion protein between UBA5 381-404 and UFC1 exists as a homodimer in solution
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • activate another ubiquitin-like protein, SUMO2, besides UFM1 (greatly activated SUMO2 in the nucleus or transferred activated-SUMO2 to nucleus after it conjugated SUMO2 in the cytoplasm)
  • UFM1 covalently attach with cellular protein(s) via a specific E1-activating enzyme (UBA5) and an E2-conjugating enzyme (UFC1)
  • UFM1 is activated by the E1 enzyme UBA5, and this pathway is proposed to play an important role in the endoplasmic reticulum (ER) stress response
  • Ufmylation is initiated by UBA5, which activates and transfers UFM1 to ubiquitin-fold modifier-conjugating enzyme 1 (UFC1)
  • UBA5 binds to UFM1 via a trans-binding mechanism in which UFM1 interacts with distinct sites in both subunits of the UBA5 dimer
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR24 , EIEE44
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking Uba5 exhibited severe anaemia, followed by death in utero
  • Uba5 silencing in zebrafish decreased motility while inducing abnormal movements suggestive of seizures