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MGP002896

UniProt Annotations

Entry Information

Gene Name	solute carrier family 16 (monocarboxylate transporter), member 1
Protein Entry	MOT1_HUMAN
UniProt ID	P53985
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P53985-1; Sequence=Displayed; Name=2; IsoId=P53985-2; Sequence=VSP_056191; Note=No experimental confirmation available.;
Disease	Familial hyperinsulinemic hypoglycemia 7 (HHF7) [MIM:610021]: Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. {ECO:0000269\|PubMed:17701893}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Monocarboxylate transporter 1 deficiency (MCT1D) [MIM:616095]: 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. {ECO:0000269\|PubMed:25390740}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]: 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. {ECO:0000269\|PubMed:10590411}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269\|PubMed:17701893}.
Interaction	P61966:AP1S1; NbExp=1; IntAct=EBI-1054708, EBI-516199; O15121:DEGS1; NbExp=1; IntAct=EBI-1054708, EBI-1052713; Q13530:SERINC3; NbExp=1; IntAct=EBI-1054708, EBI-1045571;
Miscellaneous	Overexpression in pancreatic beta-cells triggers insulin secretion in response to pyruvate, causing hyperinsulemia and hypoglycemia during strenuous exercise.
Similarity	Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. {ECO:0000305}.
Subcellular Location	Cell membrane {ECO:0000269\|PubMed:15505343, ECO:0000269\|PubMed:17127621, ECO:0000269\|PubMed:24390345}; Multi- pass membrane protein {ECO:0000269\|PubMed:15505343, ECO:0000269\|PubMed:17127621, ECO:0000269\|PubMed:24390345}.
Subunit	Interacts with EMB. Interaction with either BSG or EMB is required for expression at the cell membrane (By similarity). Interacts with BSG; this is required for expression at the cell membrane. {ECO:0000250, ECO:0000269\|PubMed:17127621}.
Tissue Specificity	Detected in heart and in blood lymphocytes and monocytes (at protein level). Widely expressed. {ECO:0000269\|PubMed:15505343}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/SLC16A1ID44046ch1p13.html";