UniProt functional annotation for O76082



	UniProt functional annotation for O76082

UniProt code: O76082.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Sodium-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}.

Subunit: Interacts with PDZK1. {ECO:0000250}.

Subcellular location: Membrane {ECO:0000269|PubMed:10679939}; Multi- pass membrane protein {ECO:0000269|PubMed:10679939}.

Tissue specificity: Strongly 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}.

Disease: Systemic 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:10559218, 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:16931768, ECO:0000269|PubMed:17126586, ECO:0000269|PubMed:20027113, ECO:0000269|PubMed:20074989, ECO:0000269|PubMed:20574985, ECO:0000269|PubMed:21922592, ECO:0000269|PubMed:28841266}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid.

Miscellaneous: [Isoform 3]: Retained in the ER, unable to perform carnitine uptake. {ECO:0000305}.

Similarity: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Sodium-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}.


Subunit:		Interacts with PDZK1. {ECO:0000250}.
Subcellular location:		Membrane {ECO:0000269\|PubMed:10679939}; Multi- pass membrane protein {ECO:0000269\|PubMed:10679939}.
Tissue specificity:		Strongly 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}.
Disease:		Systemic 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:10559218, 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:16931768, ECO:0000269\|PubMed:17126586, ECO:0000269\|PubMed:20027113, ECO:0000269\|PubMed:20074989, ECO:0000269\|PubMed:20574985, ECO:0000269\|PubMed:21922592, ECO:0000269\|PubMed:28841266}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid.
Miscellaneous:		[Isoform 3]: Retained in the ER, unable to perform carnitine uptake. {ECO:0000305}.
Similarity:		Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. {ECO:0000305}.