SLC16A1

The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.

Full Name

SOLUTE CARRIER FAMILY 16 MEMBER 1

Function

Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.

Biological Process

Biological Process behavioral response to nutrientIEA:Ensembl
Biological Process carboxylic acid transmembrane transportISS:ARUK-UCL
Biological Process cellular response to organic cyclic compoundIEA:Ensembl
Biological Process centrosome cycleManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process glucose homeostasisIEA:Ensembl
Biological Process lipid metabolic processIEA:Ensembl
Biological Process mevalonate transportManual Assertion Based On ExperimentTAS:ProtInc
Biological Process monocarboxylic acid transportManual Assertion Based On ExperimentIDA:ARUK-UCL
Biological Process plasma membrane lactate transportISS:UniProtKB
Biological Process regulation of insulin secretionIEA:Ensembl
Biological Process response to foodIEA:Ensembl
Biological Process succinate transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process transport across blood-brain barrier2 PublicationsNAS:ARUK-UCL

Cellular Location

Cell membrane

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.
Familial hyperinsulinemic hypoglycemia 7 (HHF7):
Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load.
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.

Topology

Cytoplasmic: 1-15
Helical: 16-36
Extracellular: 37-59
Helical: 60-80
Cytoplasmic: 81-86
Helical: 87-107
Extracellular: 108-111
Helical: 112-132
Cytoplasmic: 133-143
Helical: 144-164
Extracellular: 165-166
Helical: 167-187
Cytoplasmic: 188-262
Helical: 263-283
Extracellular: 284-298
Helical: 299-319
Cytoplasmic: 320-328
Helical: 329-349
Extracellular: 350-353
Helical: 354-374
Cytoplasmic: 375-389
Helical: 390-410
Extracellular: 411-422
Helical: 423-443
Cytoplasmic: 444-500