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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:603861 Ensembl IDEnsembl:ENSG00000102743 HGNC IDHGNC:HGNC:10985 PHARMGKB IDPA35861 Map Location13q14.11 | |||||
GO terms in SLC25A15
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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 |
Gene expression in normal tissue: SLC25A15
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SLC25A15
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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) |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD68 | Paclitaxel | 2 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SLC25A15
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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