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FLASH GENE
Symbol UBA1 contributors: mct/npt/shn - updated : 20-05-2012
HGNC name ubiquitin-like modifier activating enzyme 1
HGNC id 12469
Corresponding disease
SMAX X-linked infantile spinal-muscular atrophy
Location Xp11.3      Physical location : 47.050.198 - 47.074.526
Synonym name
  • complementing, temperature sensitivity A1S9 in somatic cell hybrids
  • complementing, temperature sensitivity, tsBN75m mutation, may be same as GDX
  • ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)
  • A1S9T and BN75 temperature sensitivity complementing
  • ubiquitin-activating enzyme E1 homolog (yeast)
  • ubiquitin-like modifier activating enzyme 1
  • POC20 centriolar protein homolog
  • UBA1, ubiquitin-activating enzyme E1 homolog A
  • Synonym symbol(s) CTD-2522E6.1, A1ST, GXP1, UBE1X, A1S9, A1S9T, MGC4781, UBA1A, UBE1, AMCX1, SMAX2, POC20
    EC.number 6.3.2.19
    DNA
    TYPE functioning gene
    SPECIAL FEATURE escaping inactivation
    STRUCTURE 21.33 kb     26 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map pter - DXS1003 - GATA160B08 - UBA1 - DXS1208 - DXS1039 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 splicing 3616 - 1058 - -
    26 splicing 3544 - 1058 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   lowly Homo sapiens
    Reproductivefemale systemplacenta  moderately Homo sapiens
    Respiratorylung   highly Homo sapiens
    cell lineage
    cell lines HeLa, BeWo, HepG2, CHO (
    fluid/secretion
    at STAGE
    cell cycle     cell cycle, S
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal ubiquitin-fold domain
  • mono polymer monomer
    HOMOLOGY
    interspecies ortholog to Uba1, Mus musculus
    ortholog to Uba1, Rattus norvegicus
    ortholog to uba1, Danio rerio
    ortholog to UBA1, Pan troglodytes
    Homologene
    FAMILY
  • ubiquitin-activating E1 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • ubiquitin-activating enzyme E1, escaping inactivation in human involved in cell cycle progression through S phase
  • catalyzing the first step in ubiquitin conjugation to mark cellular proteins for degradation
  • required for charging the cell-cycle E2s Cdc34A and Cdc34B (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a complex with UBE2E2, EBE2D1, UBE2G1, CBL, UBE3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Hsp105alpha (
  • cell & other
    REGULATION
    Phosphorylated by protein kinase Cdc2 (
    ASSOCIATED DISORDERS
    corresponding disease(s) SMAX
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS