SLC43A1 Gene – Function, Expression, Mutations & Disease Associations

SLC43A1 encodes the L-type amino acid transporter 3 (LAT3), a sodium-independent transporter that mediates the uptake of large neutral amino acids such as leucine, isoleucine, valine, phenylalanine, and methionine. The protein is a member of the solute carrier family 43 and is expressed in multiple tissues, with highest levels in liver, pancreas, and skeletal muscle. LAT3 plays a critical role in amino acid homeostasis and has been implicated in cancer cell proliferation and metabolic disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)

• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)

SLC43A1 (LAT3) is a 559-amino acid transmembrane protein with 12 predicted helical domains. It functions as a sodium-independent, uniport transporter for large neutral amino acids. The protein is localized to the plasma membrane and is highly expressed in liver, pancreas, and skeletal muscle. LAT3 is involved in cellular amino acid uptake, mTOR pathway activation, and has been linked to cancer cell proliferation. Structural studies indicate a substrate-binding pocket that accommodates hydrophobic side chains.