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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
    Physical map
    LOC340784 10q26.13 similar to NK-type homeobox LOC387716 10 similar to Hmx2 protein LOC387717 10 LOC387717 BUB3 10q26 BUB3 budding uninhibited by benzimidazoles 3 homolog (yeast) LOC390009 10 similar to 40S ribosomal protein S26 GPR26 10q26.2-q26.3 G protein-coupled receptor 26 DKFZp761H2121 10q26.13 hypothetical protein DKFZp761H2121 LOC119587 10q26.13 hypothetical protein LOC119587 GALNAC4S-6ST 10q26 hypothetical protein LOC119587 FLJ12616  hypothetical protein FLJ12616 LOC340735 10q26.2 similar to germ cell specific Y-box binding protein; contrin OAT 10q26 ornithine aminotransferase (gyrate atrophy) OATL3 10q26 ornithine aminotransferase-like 3 (pseudogene) LOC390010 10 similar to Sax-1 LHPP 10q26.2 phospholysine phosphohistidine inorganic pyrophosphate phosphatase KIAA0140 10q26.2 phospholysine phosphohistidine inorganic pyrophosphate phosphatase KIAA0157 10q26.2 phospholysine phosphohistidine inorganic pyrophosphate phosphatase ZRANB1 10q26.13 zinc finger, RAN-binding domain containing 1 CTBP2 21q21.3 C-terminal binding protein 2 MRPS21P6 10q26 mitochondrial ribosomal protein S21 pseudogene 6 LOC387718 10 hypothetical gene supported by AK131010; BC062717 LOC387719 10 LOC387719 EDRF1 10q26.2 erythroid differentiation-related factor 1 MMP21 10q26.3 matrix metalloproteinase 21 UROS 10q25.2-q26.3 uroporphyrinogen III synthase (congenital erythropoietic porphyria) BCCIP 10q26.1 BRCA2 and CDKN1A interacting protein DDX32 10q26.3 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 FANK1 10q26.2 fibronectin type 3 and ankyrin repeat domains 1 ADAM12 10q26.3 a disintegrin and metalloproteinase domain 12 (meltrin alpha) FLJ32938 10q26.2 hypothetical protein FLJ32938 DOCK1 10q26.13-q26.3 dedicator of cyto-kinesis 1 LOC387720 10 hypothetical gene supported by AK127642 LOC338623 10q26.2 similar to hypothetical protein B130055A05 MGC32871 10q26.3 hypothetical protein MGC32871 PTPRE 10q26 protein tyrosine phosphatase, receptor type, E MKI67 10q25-qter antigen identified by monoclonal antibody Ki-67
    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)