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Description for Protein OTC

ornithine carbamoyltransferase
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.1.3.3
KEGG - Orthology:
K00611
KEGG - Pathway(s):
hsa00330; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Ornithine carbamoyltransferase, mitochondrial; OTCase; Ornithine transcarbamylase
Approved Symbol:
OTC
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • 2-Amino-Pentanoic Acid(db);
  • L-Citrulline(db);
  • L-Ornithine(db);
  • N-(Phosphonoacetyl)-L-Ornithine(db);
  • Norvaline(db)

    Associated Genetic Diseases:

  • Ornithine transcarbamylase deficiency(Pd);
  • Ornithine transcarbamylase polymorphism(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08947 Entrez Gene ID: 5009 OMIM ID: 300461 Swissprot Accession: P00480;