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Description for Protein SLC25A15

solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 2/0)
(membrane: 1; platelet: 4)
Summary:
This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
None Available
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
Ornithine transporter, mitochondrial, 1; ORNT1
Approved Symbol:
SLC25A15
(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):

  • L-Ornithine(db)

    Associated Genetic Diseases:

  • Hhh syndrome(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04838 Entrez Gene ID: 10166 OMIM ID: 603861 Swissprot Accession: Q9Y619;