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FLASH GENE
Symbol UROS contributors: SGE/npt - updated : 09-03-2010
HGNC name uroporphyrinogen III synthase
HGNC id 12592
Corresponding disease
CEP porphyria congenita erythropoietic
Location 10q26.2      Physical location : 127.477.147 - 127.511.837
Synonym name
  • hydroxymethylbilane hydrolyase
  • uroporphyrinogen-III cosynthetase
  • uroporphyrinogen-III synthase
  • Synonym symbol(s) UROIIIS
    EC.number 4.2.1.75
    DNA
    TYPE functioning gene
    STRUCTURE 34.69 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence alternative promoter
    Binding site
    text structure specific GATA1 and NF-E2 sites for the erythroid form
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 1279 - 265 . housekeeping . ubiquitous Aizencang (2000)
    also called H-UROS
    10 splicing 1371 - 265 erythroid fetal liver, spleen, bone marrow Tsai 1988
    also called E-UROS or UROS
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
    Reproductivefemale systemuteruscervix  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to murine Uros (77.7pc)
    homolog to rattus Uros (77.7pc)
    Homologene
    FAMILY
  • uroporphyrinogen-III synthase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • uroporphyrinogen III synthase, catalyzing the fourth step of porphyrin biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism porphyrin/heme
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    repressed by hypoxia (Vargas 2008)
    ASSOCIATED DISORDERS
    corresponding disease(s) CEP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Heterozygous mice for P248Q mutation appeared normal, but homozygous mutant mice were hypotrophic at birth and produced red urine and showed erythrodontia in the first weeks of life. Homozygous mutant mice also showed photosensitivity and hepatosplenomegaly, and uroporphyrin accumulated in urine (Ged 2006)