Amino acid transporter heavy chain SLC3A1 (SLC3A1)

Amino acid transporter heavy chain SLC3A1 is a single-pass transmembrane protein belonging to the solute carrier family (specifically SLC3). It forms a heterodimeric transporter complex by associating with SLC7A9, enabling high-affinity reabsorption of cystine and dibasic amino acids across the brush border of renal proximal tubules and the intestinal epithelium. The transporter operates primarily in the kidney and small intestine, acting independently of sodium ions. Mutations in SLC3A1 disrupt amino acid transport, resulting in the accumulation of poorly soluble cystine and subsequent formation of kidney stones (cystinuria). SLC3A1 also participates in other physiological processes, such as protein heterodimerization and trafficking of amino acid transporters to the plasma membrane. Additional roles include facilitating amino acid exchange and metabolic regulation within epithelial tissues. There are no approved drugs directly targeting SLC3A1; clinical management of related disorders centers on symptom relief and stone prevention. Genetic diagnosis utilizes SLC3A1 mutation detection, which serves as a biomarker for cystinuria and associated syndromes[1][3][4][5][6][7].

Other names

SLC3A1Neutral and basic amino acid transport protein rBATNBATrBATCSNU1D2HATR1b(0,+)-type amino acid transporter-related heavy chainamino acid transporter 1solute carrier family 3 member 1Solute carrier family 3 (cystine, dibasic, and neutral amino acid transporters), member 1

For cystinuria, thiol drugs act by converting cystine into more soluble forms, facilitating its excretion rather than directly inhibiting/activating SLC3A1[4][5][3]. No targeted drugs are known to directly modulate SLC3A1 activity.