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MGP002912

UniProt Annotations

Entry Information
Gene Namesolute carrier family 22 (organic cation/carnitine transporter), member 5
Protein EntryS22A5_HUMAN
UniProt IDO76082
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=O76082-1; Sequence=Displayed; Name=2; IsoId=O76082-2; Sequence=VSP_011120, VSP_011121; Note=No experimental confirmation available.; Name=3; Synonyms=OCTN2VT; IsoId=O76082-3; Sequence=VSP_043904; Note=Retained in the ER, unable to perform carnitine uptake.;
DiseaseSystemic primary carnitine deficiency (CDSP) [MIM:212140]: Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. {ECO:0000269|PubMed:10072434, ECO:0000269|PubMed:10425211, ECO:0000269|PubMed:10480371, ECO:0000269|PubMed:10545605, ECO:0000269|PubMed:10612840, ECO:0000269|PubMed:10679939, ECO:0000269|PubMed:11058897, ECO:0000269|PubMed:11715001, ECO:0000269|PubMed:15617188, ECO:0000269|PubMed:15714519, ECO:0000269|PubMed:17126586, ECO:0000269|PubMed:20027113, ECO:0000269|PubMed:20074989, ECO:0000269|PubMed:20574985, ECO:0000269|PubMed:21922592}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3. {ECO:0000269|PubMed:10454528}.
MiscellaneousInhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid.
SimilarityBelongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000269|PubMed:10679939}; Multi-pass membrane protein {ECO:0000269|PubMed:10679939}.
SubunitInteracts with PDZK1. {ECO:0000250}.
Tissue SpecificityStrongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells. {ECO:0000269|PubMed:10454528}.
Web ResourceName=The SLC22A5 database; URL="http://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php";
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