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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9Y619 |
| Protein name |
Mitochondrial ornithine transporter 1 (Solute carrier family 25 member 15) |
| Protein function |
Mitochondrial ornithine-citrulline antiporter (Probable) (PubMed:12807890, PubMed:22262851). Catalyzes the exchange between cytosolic ornithine and mitochondrial citrulline plus an H(+), the proton compensates the positive charge of ornithine th |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00153 |
Mito_carr |
5 → 96 |
Mitochondrial carrier protein |
Family |
| PF00153 |
Mito_carr |
102 → 202 |
Mitochondrial carrier protein |
Family |
| PF00153 |
Mito_carr |
205 → 298 |
Mitochondrial carrier protein |
Family |
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| Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart. {ECO:0000269|PubMed:12807890}. |
| Sequence |
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| Sequence length |
301 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cardiac arrhythmia |
Pathogenic |
rs1448259297 |
RCV004526708 |
| Hereditary breast ovarian cancer syndrome |
Pathogenic |
rs1448259297 |
RCV004543282 |
| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
Likely pathogenic; Pathogenic |
rs957788324, rs2138056681, rs2138056689, rs1593295876, rs1882233400, rs2138054088, rs2138045649, rs2138057963, rs2138045987, rs2138053997, rs2138056832, rs2546923499, rs1882296805, rs2546920755, rs2546917561, rs2546920750, rs202247803, rs104894424, rs104894429, rs104894430, rs104894431, rs121908533, rs121908534, rs121908535, rs121908536, rs754436560, rs2546915819, rs2546920893, rs752415542, rs2546917556, rs2546920927, rs1305063593, rs1882120489, rs1881780569, rs2546915876, rs2546920944, rs1226613511, rs2138054047, rs2138056755, rs2546917744, rs2546917651, rs2546922090, rs902890400, rs2546917584, rs1224359023, rs2546922700, rs2546922719, rs2546922730, rs2546922684, rs2546921923, rs2546915868, rs745709409, rs749817266, rs2546917576, rs1064793683, rs199894905, rs141028076, rs202247805, rs202247807, rs1448259297, rs1566123619, rs1480063127, rs200873328, rs1566121215, rs780201405, rs1882127556, rs756522093, rs1882296594, rs202247806 View all (54 more) |
RCV001378384 RCV001389189 RCV001386805 RCV001384113 RCV001783757 RCV001959586 RCV001967854 RCV001994568 RCV001898279 RCV002045445 RCV001994702 RCV002302540 RCV003041189 RCV002761028 RCV002741706 RCV002863632 RCV000006358 RCV000006359 RCV000006360 RCV000006361 RCV000006362 RCV000006363 RCV000006364 RCV000006365 RCV000006366 RCV003054285 RCV003228210 RCV003234619 RCV003615957 RCV003472822 RCV003472823 RCV003472824 RCV003472826 RCV003472827 RCV003472828 RCV003472829 RCV003472830 RCV003472833 RCV003472834 RCV003472835 RCV003472836 RCV003506026 RCV003506256 RCV003504731 RCV003505618 RCV003616614 RCV003616722 RCV003616841 RCV003616885 RCV003615700 RCV003882005 RCV004573613 RCV004573615 RCV004573616 RCV001203232 RCV001235689 RCV000031951 RCV000031953 RCV000031955 RCV001382896 RCV000688200 RCV000812857 RCV000806204 RCV001062874 RCV001056074 RCV001070913 RCV001113456 RCV001222424 RCV001224690 RCV001250167 |
| SLC25A15-related disorder |
Likely pathogenic; Pathogenic |
rs1882296805, rs202247803, rs104894429, rs2546922711 |
RCV003404032 RCV003421907 RCV003415665 RCV003405794 |
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