SLC25A15
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.[provided by RefSeq, May 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| solute carrier family 25 member 15 | MIM:603861 | Ensembl:ENSG00000102743 | HGNC:HGNC:10985 | PA35861 | 13q14.11 |
GO terms in SLC25A15
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | EXP | GO:0000064 | L-ornithine transmembrane transporter activity |
| MF | IBA | GO:0000064 | L-ornithine transmembrane transporter activity |
| MF | IBA | GO:0005476 | carnitine:acyl carnitine antiporter activity |
| MF | IBA | GO:0015226 | carnitine transmembrane transporter activity |
| BP | TAS | GO:0000050 | urea cycle |
| BP | IBA | GO:0015879 | carnitine transport |
| BP | TAS | GO:1990575 | mitochondrial L-ornithine transmembrane transport |
| CC | TAS | GO:0005743 | mitochondrial inner membrane |
Gene expression in normal tissue: SLC25A15
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC25A15
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00001 | Citrullinemia Type I |
| smpdb | SMP00002 | Carbamoyl Phosphate Synthetase Deficiency |
| smpdb | SMP00003 | Argininosuccinic Aciduria |
| smpdb | SMP00020 | Arginine and Proline Metabolism |
| smpdb | SMP00059 | Urea Cycle |
| smpdb | SMP00188 | Guanidinoacetate Methyltransferase Deficiency (GAMT Deficiency) |
| smpdb | SMP00205 | Ornithine Transcarbamylase Deficiency (OTC Deficiency) |
| smpdb | SMP00207 | Prolidase Deficiency (PD) |
| smpdb | SMP00208 | Prolinemia Type II |
| smpdb | SMP00357 | Argininemia |
| smpdb | SMP00360 | Hyperprolinemia Type II |
| smpdb | SMP00361 | Hyperprolinemia Type I |
| smpdb | SMP00362 | Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency) |
| smpdb | SMP00363 | Ornithine Aminotransferase Deficiency (OAT Deficiency) |
| smpdb | SMP00504 | Creatine deficiency, guanidinoacetate methyltransferase deficiency |
| smpdb | SMP00505 | Hyperornithinemia with gyrate atrophy (HOGA) |
| smpdb | SMP00506 | Hyperornithinemia-hyperammonemia-homocitrullinuria [HHH-syndrome] |
| smpdb | SMP00507 | L-arginine:glycine amidinotransferase deficiency |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-351202 | Metabolism of polyamines |
| reactome | R-HSA-70635 | Urea cycle |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC25A15
CLASSFICATION
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