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FLASH GENE
Symbol OTC contributors: mct - updated : 29-04-2013
HGNC name ornithine carbamoyltransferase
HGNC id 8512
Corresponding disease
OTC ornithine transcarbamylase deficiency
Location Xp21.1      Physical location : 38.211.735 - 38.280.702
Synonym symbol(s) OCTD
EC.number 2.1.3.3
DNA
TYPE functioning gene
STRUCTURE 68.97 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • full transcriptional activity of OTC promoter depends on an upstream enhancer
  • promoter-enhancer interaction contributes to tissue specific expression of OTC in the liver
  • MAPPING cloned Y linked Y status confirmed
    Map pter - DXS84 - OTC OTC - DXS209 - DXS56 ,DXS1368 - DXS993 - DXS42 ,DXS7 - MAOA - MAOB - UBE1 - ARAF - SYN1 ,TIMP1 - TBC1D25 - SYP ,TFE3 - OATL2 - MTHFD1P1 - cen
    Authors Boycott (97)
    regionally located . being proximal to DMD
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 1647 - 354 - 2009 19475717
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     liver     Homo sapiensAdult
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to rattus Otc (91.8pc)
    ortholog to murine Otc (92.7pc)
    Homologene
    FAMILY
  • ATCase/OTCase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • acting as an ornithine carbamoyltransferase
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS detoxification
    PATHWAY
    metabolism aminoacid
    signaling
  • second step in urea cycle
  • arginine biosynthesis
  • ornithine metabolism
  • a component
  • ornithine carbamoyltransferase complex
  • INTERACTION
    DNA
    RNA
    small molecule other,
  • ornithine
  • carbamoyl phosphate
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OTC
    related resource Ornithine transcarbamylase deficiency
    Susceptibility to alzheimer disease (AD)
    Variant & Polymorphism SNP
  • two SNPs -389 G/A (rs5963409) and -241 A/G (rs5963411) located in the promoter of the OTC gene are associated with the risk of developing AD
  • Candidate gene
    Marker
  • appeared superior to cytosol-derived markers in the detection of alcohol-induced liver injury
  • Therapy target
    ANIMAL & CELL MODELS