RBCC Red Blood Cell Collection

MOT1_HUMAN

Source: hRBCD ; ID: IPI00024650
PM19886704
PM23856902
BSc_CH
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: SLC16A1 , MCT1
Protein names and data: MOT1_HUMAN , Monocarboxylate transporter 1; MCT 1 , Solute carrier family 16 member 1 Lenght: 500 a.a.
Mass: 53944 Da
fasta formatted sequence
Function: Proton-linked 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.
Disease: ( OMIM: 245340 600682 610021 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Familial hyperinsulinemic hypoglycemia 7 (HHF7) [MIM:610021]: Dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cell membrane; Multi-pass membrane protein.
Tissue specificity: Widely expressed in normal and in cancer cells.

Genetic variants

85 - 85 S -> G (in dbSNP:rs11551867). VAR_054804 11551867
204 - 204 K -> E (in SDLT). VAR_010434
472 - 472 G -> R (in SDLT; dbSNP:rs72552271). VAR_010435 72552271
490 - 490 D -> E (in dbSNP:rs1049434). VAR_010436 1049434

Database cross-references

UniProt: P53985
Ensembl: ENST00000369626
Ensembl: ENST00000538576
MIM: 245340
MIM: 600682
MIM: 610021
neXtProt: NX_P53985
Antibodypedia: P53985 (may not find the protein thus also not any antibody)
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