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FLASH GENE
Symbol UPB1 contributors: - updated : 18-12-2004
HGNC name ureidopropionase, beta
HGNC id 16297
Corresponding disease
UPB1 ureidopropionase, beta deficiency
Location 22q11.2      Physical location : 24.891.250 - 24.922.552
Synonym name
  • beta-alanine synthase
  • n-carbamoyl-beta-alanine amidohydrolase
  • Synonym symbol(s) BUP1
    EC.number 3.5.1.6
    DNA
    TYPE functioning gene
    STRUCTURE 20.00 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Nervousbrain    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    one CN hydrolase domain
    mono polymer homomer , hexamer
    HOMOLOGY
    interspecies ortholog to rattus Ubp1
    Homologene
    FAMILY CN hydrolase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION catalyzing the last step in the pyrimidine degradation pathway
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
    cell & other
    REGULATION
    inhibited by propionate
    ASSOCIATED DISORDERS
    corresponding disease(s) UPB1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS