| URN | urn:agi-llid:1042 |
|---|---|
| Name | SLC22A5 |
| Description | solute carrier family 22 (organic cation/carnitine transporter), member 5 |
| Connectivity | 33 |
| Notes | Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq] |
| Swiss-Prot Accession | B2R844 |
|---|---|
| O76082 | |
| Q59FH6 | |
| Q5SX17 | |
| Q9Z0E8 | |
| Q3USA0 | |
| O70594 |
| Unigene ID | Hs.443572 |
|---|---|
| Mm.42253 | |
| Rn.8844 |
| KEGG ID | hsa:6584 |
|---|---|
| mmu:20520 | |
| rno:29726 |
| Swiss-Prot ID | S22A5_HUMAN |
|---|---|
| S22A5_MOUSE | |
| S22A5_RAT | |
| B2R844_HUMAN | |
| Q5SX17_MOUSE |
| Cell Localization | Plasma membrane |
|---|
| GO ID | 0005524 |
|---|---|
| 0015226 | |
| 0015075 | |
| 0000166 | |
| 0031402 | |
| 0015293 | |
| 0005215 | |
| 0015879 | |
| 0006811 | |
| 0006814 | |
| 0016021 | |
| 0031231 | |
| 0005777 | |
| 0005886 | |
| 0015651 | |
| 0007512 | |
| 0009437 | |
| 0007626 | |
| 0007005 | |
| 0015697 | |
| 0048608 | |
| 0006810 | |
| 0016020 | |
| 0042895 | |
| 0042891 | |
| 0016323 |
| Pathway | Toxicology Array |
|---|---|
| New Pathway | |
| PPARalpha Pathway |
| IPI ID | IPI00435872 |
|---|---|
| IPI00435873 | |
| IPI00829886 | |
| IPI00555976 | |
| IPI00894282 | |
| IPI00129041 | |
| IPI00880602 | |
| IPI00885309 | |
| IPI00199585 | |
| IPI00778863 | |
| IPI00776665 |
| Ariadne Ontology | Na+ influx co-transport |
|---|---|
| OA transport |
| Mouse chromosome position | 11 28.0 cM |
|---|
| GO Molecular Function | transporter activity |
|---|---|
| nucleotide binding | |
| sodium ion binding | |
| ATP binding | |
| carnitine transporter activity | |
| antibiotic transporter activity | |
| ion transmembrane transporter activity | |
| quaternary ammonium group transmembrane transporter activity | |
| symporter activity |
| Homologene ID | 68295 |
|---|
| Hugo ID | 10969 |
|---|
| GO Cellular Component | membrane |
|---|---|
| peroxisome | |
| intrinsic to peroxisomal membrane | |
| plasma membrane | |
| integral to membrane | |
| basolateral plasma membrane |
| MGI ID | 1329012 |
|---|
| Human chromosome position | 5q31 |
|---|
| GO Biological Process | mitochondrion organization |
|---|---|
| carnitine metabolic process | |
| reproductive structure development | |
| adult heart development | |
| transport | |
| ion transport | |
| quaternary ammonium group transport | |
| carnitine transport | |
| antibiotic transport | |
| sodium ion transport | |
| locomotory behavior |
| Rat chromosome position | 10q22 |
|---|
| Group | Na+ influx co-transport |
|---|---|
| OA transport | |
| membrane | |
| peroxisome | |
| intrinsic to peroxisomal membrane | |
| plasma membrane | |
| integral to membrane | |
| basolateral plasma membrane | |
| transporter activity | |
| nucleotide binding | |
| sodium ion binding | |
| ATP binding | |
| carnitine transporter activity | |
| antibiotic transporter activity | |
| ion transmembrane transporter activity | |
| quaternary ammonium group transmembrane transporter activity | |
| symporter activity | |
| mitochondrion organization | |
| carnitine metabolic process | |
| reproductive structure development | |
| adult heart development | |
| transport | |
| ion transport | |
| quaternary ammonium group transport | |
| carnitine transport | |
| antibiotic transport | |
| sodium ion transport | |
| locomotory behavior |
| RGD ID | 3702 |
|---|
| LocusLink ID | 1042 |
|---|---|
| 6584 | |
| 20520 | |
| 29726 |
| Alias | CDSP |
|---|---|
| OCTN2 | |
| OCTN2VT | |
| FLJ46769 | |
| solute carrier family 22 member 5 | |
| organic cation transporter 2 | |
| organic cation transporter 5 | |
| organic cation/carnitine transporter 2 | |
| high-affinity sodium dependent carnitine cotransporter | |
| solute carrier family 22 (organic cation transporter), member 5 | |
| jvs | |
| Lstpl | |
| RP23-303F24.2 | |
| Lstp-like | |
| OTTMUSP00000005825 | |
| juvenile visceral steatosis | |
| CT1 | |
| UST2r | |
| solute carrier family 22, member 5 | |
| high-affinity carnitine transporter | |
| integral membrane transport protein | |
| organic cation/carnitine transporter | |
| Slc22a5 | |
| Solute carrier family 22, member 5 | |
| High-affinity sodium-dependent carnitine cotransporter | |
| organic cation transporter V | |
| Solute carrier family 22, member V | |
| solute carrier family 22 (organic cation transporter), member V | |
| Organic cation/carnitine transporter II | |
| CDSP gene | |
| juvenile visceral steatosis gene | |
| systemic primary carnitine deficiency gene | |
| systemic primary carnitine deficiency protein | |
| CDSP protein | |
| juvenile visceral steatosis protein | |
| solute carrier family 22 (organic cation/carnitine transporter), member 5 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 603377 |
|---|---|
| 212140 |