SLC7A5 (LAT1) – Large Neutral Amino Acid Transporter
Solute Carrier Family 7 Member 5: Role in Amino Acid Transport, Cancer Metabolism, and mTOR Signaling
Gene Information Card
| Symbol | SLC7A5 |
|---|---|
| Full Name | Solute Carrier Family 7 Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 8140 ncbi.nlm.nih.gov/gene/8140 |
| Ensembl ID | ENSG00000103257 |
| UniProt ID | Q01650 |
| OMIM ID | 600182 |
| HGNC ID | 11063 |
| Aliases | LAT1, MPE16, CD98LC, D16S469E, 4F2LC |
Description
SLC7A5 encodes the L-type amino acid transporter 1 (LAT1), a sodium-independent, high-affinity transporter for large neutral amino acids such as leucine, phenylalanine, and tryptophan. LAT1 forms a heterodimeric complex with the heavy chain CD98 (SLC3A2) and is essential for cellular amino acid uptake, mTORC1 signaling, and cell growth. It is highly expressed in blood-brain barrier, placenta, and many cancers, where it supports proliferation and metabolic reprogramming.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of SLC7A5 increases leucine uptake, activating mTORC1 and promoting tumor growth. | PubMed, COSMIC, TCGA |
| Autism spectrum disorder | Rare variants in SLC7A5 impair brain amino acid transport, affecting neurotransmitter synthesis. | OMIM, ClinVar |
| Epilepsy | Dysregulation of LAT1-mediated transport alters brain amino acid homeostasis. | ClinVar, literature |
| Metabolic disorders | Altered SLC7A5 expression linked to insulin resistance and obesity. | GWAS, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Placenta | 18.3 | High |
| Testis | 9.8 | Medium |
| Kidney | 6.2 | Medium |
| Liver | 2.1 | Low |
| Skeletal Muscle | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 15.2 | High expression; supports proliferation |
| MCF7 (breast cancer) | 11.8 | High expression; mTOR activation |
| HEK293 (embryonic kidney) | 8.5 | Moderate expression |
| HepG2 (liver cancer) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1063G>A (p.Gly355Arg) | Missense | <0.01% | Reduced transport activity; associated with autism |
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% | Impaired cell surface expression; autism |
| c.1375G>A (p.Gly459Arg) | Missense | <0.01% | Loss of function; autism |
| Amplification | Copy number gain | Variable | Increased expression in cancers |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly355Arg, p.Arg416Trp) reduce amino acid transport activity and cell surface localization, linked to autism.
Gain of Function (GOF)
Gene amplification and overexpression in cancers lead to increased leucine uptake and mTORC1 hyperactivation.
Dominant Negative (DN)
Not reported for SLC7A5.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005326 – L-amino acid transmembrane transporter activity | • GO:0015171 – amino acid transmembrane transporter activity |
| • GO:0015804 – neutral amino acid transport | • GO:0005886 – plasma membrane |
| • GO:0031526 – brush border membrane | • GO:0043231 – intracellular membrane-bounded organelle |
Pathways
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)
• mTORC1 signaling (Reactome: R-HSA-165159)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
LAT1 (SLC7A5) is a 507-amino acid transmembrane protein with 12 putative helices. It functions as a sodium-independent exchanger of large neutral amino acids, coupling efflux of intracellular amino acids (e.g., glutamine) to influx of leucine. The protein requires association with SLC3A2 (CD98hc) for trafficking to the plasma membrane. LAT1 is a key regulator of mTORC1 activation and is overexpressed in many cancers, making it a target for cancer therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A5 Knockout HEK293 Cell Line | EDJ-KQ17900 | Human | 8140 | Details Get a Quote |
| SLC7A5 Knockout HeLa Cell Line | EDC08354 | Human | 8140 | Details Get a Quote |
| SLC7A5 Knockout HCT 116 Cell Line | EDJ-KQ23377 | Human | 8140 | Details Get a Quote |
| SLC7A5 Knockout A-549 Cell Line | EDJ-KQ24766 | Human | 8140 | Details Get a Quote |
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