SLC1A5

Description

The SLC1A5 (solute carrier family 1 member 5) is a protein-coding gene located on chromosome 19.

SLC1A5 encodes Neutral amino acid transporter B(0), a protein involved in the transport of neutral amino acids across cell membranes. It is also known as Baboon M7 virus receptor, RD114/simian type D retrovirus receptor, Sodium-dependent neutral amino acid transporter type 2, and Solute carrier family 1 member 5.

SLC1A5 encodes a protein that functions as a sodium-coupled antiporter of neutral amino acids. It facilitates the exchange of neutral amino acids between the extracellular and intracellular compartments, coupled with the inward transport of at least one sodium ion. The protein exhibits a preference for L-glutamine, a crucial amino acid for protein, nucleotide, and amine sugar biosynthesis, and an alternative fuel source for mitochondrial oxidative phosphorylation. It also exchanges L-glutamine with other neutral amino acids such as L-serine, L-threonine, and L-asparagine in a bidirectional manner. This transport is generally pH-independent, except for L-glutamate, which is transported with the cotransport of a proton and a sodium ion in exchange for intracellular L-glutamine. The protein is involved in L-glutamate uptake in glial cells, regulating the glutamine/glutamate cycle in the nervous system. It can also transport D-amino acids and mediates D-serine release from retinal glia, potentially affecting NMDA receptor function in retinal neurons. The protein displays sodium- and amino acid-dependent but uncoupled channel-like anion conductance, favoring SCN(-) over NO3(-), I(-), and Cl(-). Through binding of the fusogenic protein syncytin-1/ERVW-1, SLC1A5 may mediate trophoblast syncytialization, a crucial process in placental development.

SLC1A5 is also known as AAAT, ASCT2, ATBO, M7V1, M7VS1, R16, RDRC.

Associated Diseases

WES Whole Exome Sequencing