SLC16A1
Function
Bidirectional proton-coupled monocarboxylate transporter (PubMed:12946269, PubMed:32946811, PubMed:33333023). Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, acetate and the ketone bodies acetoacetate and beta-hydroxybutyrate, and thus contributes to the maintenance of intracellular pH (PubMed:12946269, PubMed:33333023). The transport direction is determined by the proton motive force and the concentration gradient of the substrate monocarboxylate. MCT1 is a major lactate exporter (By similarity). Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis (By similarity). Facilitates the protonated monocarboxylate form of succinate export, that its transient protonation upon muscle cell acidification in exercising muscle and ischemic heart (PubMed:32946811). Functions via alternate outward- and inward-open conformation states. Protonation and deprotonation of 309-Asp is essential for the conformational transition (PubMed:33333023).
Involvement in disease
Symptomatic deficiency in lactate transport
SDLT
Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals.
None
The disease is caused by variants affecting the gene represented in this entry.
Hyperinsulinemic hypoglycemia, familial, 7
HHF7
A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF7 features include exercise-induced hyperinsulinism, loss of consciousness due to hypoglycemia, and hypoglycemic seizures. HHF7 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Monocarboxylate transporter 1 deficiency
MCT1D
A metabolic disorder characterized by recurrent ketoacidosis, a pathologic state due to ketone formation exceeding ketone utilization. The clinical consequences of ketoacidosis are vomiting, osmotic diuresis, dehydration, and Kussmaul breathing. The condition may progress to decreased consciousness and, ultimately, death.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
Tissue Specificity
Widely expressed (PubMed:12115955, PubMed:15505343, PubMed:15901598). Detected in heart and in blood lymphocytes and monocytes (at protein level) (PubMed:15505343).
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Basolateral cell membrane
- Multi-pass membrane protein
- Apical cell membrane
- Multi-pass membrane protein
- Expression at the cell surface requires the ancillary proteins BSG and EMB. Binds preferentially to BSG.
Alternative names
MCT1, SLC16A1, Monocarboxylate transporter 1, MCT 1, Solute carrier family 16 member 1