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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)
    Physical map
    LOC340571 Xp21.1 similar to hSIAH1 LOC392441 X similar to melanoma antigen LOC139604 Xp21.1 similar to hypothetical protein MGC33889 MGC34831 Xp21.1 hypothetical protein MGC34831 FLJ36601 Xp21.1 hypothetical protein FLJ36601 LOC158730 Xp21.1 hypothetical LOC158730 PRRG1 Xp21.1 proline-rich Gla (G-carboxyglutamic acid) polypeptide 1 LOC389844 X similar to ferritin, heavy polypeptide-like 17 LOC139249 Xp21.1 similar to hypothetical protein FLJ35782 FLJ42925 Xp21.1 FLJ42925 protein XK Xp21.1 Kell blood group precursor (McLeod phenotype) CYBB Xp21.1 cytochrome b-245, beta polypeptide (chronic granulomatous disease) TCTE1L Xp21.1 t-complex-associated-testis-expressed 1-like SC4MOP Xp21.1 sterol-C4-methyl oxidase pseudogene HYPM Xp21.1 sterol-C4-methyl oxidase pseudogene LOC340549 Xp21.1 similar to RIKEN cDNA 1700113O17 SYTL5 Xp21.1 synaptotagmin-like 5 SRPX Xp21.1 sushi-repeat-containing protein, X chromosome LOC286441 Xp21.1 hypothetical LOC286441 RPGR Xp21.1 retinitis pigmentosa GTPase regulator OTC Xp21.1 ornithine carbamoyltransferase LOC392442 X similar to BAG-family molecular chaperone regulator-1 (BCL-2 binding athanogene-1) (BAG-1) (Glucocorticoid receptor-associated protein RAP46) LOC392443 X similar to ferritin light chain LOC392444 X similar to Nucleolar transcription factor 1 (Upstream binding factor 1) (UBF-1) TM4SF2 Xp11.4-q11 transmembrane 4 superfamily member 2 LOC389845 X LOC389845 STRAIT11499 Xp11.4 hypothetical protein STRAIT11499 LOC389846 X hypothetical gene supported by BC043536 GAPDP1 Xp11.4-p11.23 glyceraldehyde-3-phosphate dehydrogenase pseudogene 1 LOC392445 X similar to 40S ribosomal protein S11 BCOR Xp11.4 BCL6 co-repressor LOC158624 Xp11.4 similar to IMP dehydrogenase (EC 1.1.1.205) I - human ATP6AP2 Xq21 ATPase, H+ transporting, lysosomal accessory protein 2 LOC347411 Xp11.4 similar to ENSANGP00000015797 MGC39350 Xp11.4 hypothetical protein MGC39350 CRSP2 Xp11.2-p11.4 cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa LOC392446 X similar to claudin 7; Clostridium perfringens enterotoxin receptor-like 2; claudin 9
    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