SLC1A5
Solute Carrier Family 1 Member 5 (ASCT2) – Neutral Amino Acid Transporter
Gene Information Card
| Symbol | SLC1A5 |
|---|---|
| Full Name | Solute Carrier Family 1 Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.3 |
| NCBI Gene ID | 6510 ncbi.nlm.nih.gov/gene/6510 |
| Ensembl ID | ENSG00000105281 |
| UniProt ID | Q15758 |
| OMIM ID | 109190 |
| HGNC ID | 10941 |
| Aliases | ASCT2, M7V1, R16, AAAT, ATBO, SLC1A6 |
Description
SLC1A5 (Solute Carrier Family 1 Member 5) encodes the neutral amino acid transporter ASCT2, which mediates sodium-dependent uptake of neutral amino acids such as glutamine, alanine, serine, and threonine. ASCT2 is a key glutamine transporter in many tissues and is frequently overexpressed in cancers, supporting cell proliferation and mTOR signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of SLC1A5 increases glutamine uptake, fueling anabolic metabolism and mTORC1 activation | High expression in tumor samples (COSMIC, TCGA) |
| Neurodegenerative disorders | Altered glutamine transport may affect glutamate-glutamine cycle in astrocytes | Association studies (PubMed) |
| Metabolic syndrome | SLC1A5 variants linked to altered amino acid homeostasis | GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Small intestine | 8.9 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| A549 | 14.8 | High expression |
| HEK293 | 11.2 | Medium expression |
| MCF7 | 9.7 | Medium expression |
| K562 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.128G>A (p.Arg43Gln) | Missense | <0.1% | Reduced glutamine transport activity |
| c.491C>T (p.Thr164Ile) | Missense | <0.1% | Unknown functional effect |
| c.1045G>A (p.Gly349Arg) | Missense | <0.1% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
p.Arg43Gln reduces glutamine uptake
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0005283 – neutral amino acid:sodium symporter activity | • GO:0015171 – amino acid transmembrane transporter activity |
| • GO:0015187 – glycine transmembrane transporter activity | • GO:0015183 – L-alanine transmembrane transporter activity |
| • GO:0015186 – L-glutamine transmembrane transporter activity | • GO:0005886 – plasma membrane |
| • GO:0016021 – integral component of membrane | • GO:0006865 – amino acid transport |
| • GO:1990825 – glutamine import across plasma membrane |
Pathways
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)
• Glutamine metabolism (Reactome: R-HSA-8964539)
• mTOR signaling (Reactome: R-HSA-165159)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
ASCT2 (SLC1A5) is a 541-amino acid transmembrane protein with 10 predicted transmembrane domains. It functions as a sodium-dependent neutral amino acid exchanger, preferentially transporting glutamine, alanine, serine, and threonine. The protein is localized to the plasma membrane and is essential for cellular glutamine uptake, which supports nucleotide synthesis, redox balance, and mTOR signaling. ASCT2 is overexpressed in many cancers and is a target for anticancer therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC1A5 Knockout HEK293 Cell Line | EDJ-KQ263 | Human | 6510 | Details Get a Quote |
| SLC1A5 Knockout A-549 Cell Line | EDJ-KQ45975 | Human | 6510 | Details Get a Quote |
| SLC1A5 Knockout HeLa Cell Line | EDJ-KQ45977 | Human | 6510 | Details Get a Quote |
| SLC1A5 Knockout HCT 116 Cell Line | EDC08376 | Human | 6510 | Details Get a Quote |
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