SLC38A5: Sodium-coupled Neutral Amino Acid Transporter 5
A solute carrier family 38 member 5 gene encoding a glutamine transporter with roles in cancer and development.
Gene Information Card
| Symbol | SLC38A5 |
|---|---|
| Full Name | Solute carrier family 38 member 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.3 |
| NCBI Gene ID | 92745 ncbi.nlm.nih.gov/gene/92745 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q8WUX1 |
| OMIM ID | 608087 |
| HGNC ID | 26947 |
| Aliases | SNAT5, SN2, PP1044, JM24 |
Description
SLC38A5 encodes a sodium-coupled neutral amino acid transporter (SNAT5) that mediates the transport of glutamine, asparagine, histidine, and alanine. It functions as a symporter with Na+ and can also operate in a reverse mode to efflux amino acids. The gene is implicated in glutamine metabolism, cancer cell proliferation, and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | SLC38A5 overexpression enhances glutamine uptake, supporting mTOR signaling and tumor growth. | COSMIC, PubMed |
| Intellectual disability | Rare variants in SLC38A5 have been associated with neurodevelopmental phenotypes. | ClinVar, OMIM |
| Metabolic disorders | Altered glutamine transport may contribute to urea cycle dysfunction. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 6.8 | Medium |
| Liver | 4.2 | Low |
| Kidney | 3.1 | Low |
| Placenta | 12.5 | High |
| Testis | 9.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 8.7 | Medium expression |
| HepG2 | 5.4 | Low expression |
| SH-SY5Y | 11.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.416C>T (p.Pro139Leu) | Missense | <0.01% | Unknown; predicted benign |
| c.788G>A (p.Arg263His) | Missense | <0.01% | ClinVar: uncertain significance |
| c.1021_1023del (p.Phe341del) | In-frame deletion | <0.01% | Loss of function suspected |
Mutation functional classification
Loss of Function (LOF)
Deletion variants (e.g., p.Phe341del) likely impair transporter activity.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
No evidence available.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015171 (amino acid transmembrane transporter activity) | • GO:0015293 (symporter activity) |
| • GO:0005887 (integral component of plasma membrane) | • GO:0006865 (amino acid transport) |
| • GO:0015804 (neutral amino acid transport) |
Pathways
• Glutamine metabolism (Reactome: R-HSA-210500)
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352025)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC38A5 (SNAT5) is a 472-amino acid multi-pass membrane protein belonging to the SLC38 family. It functions as a Na+-coupled neutral amino acid transporter, with highest affinity for glutamine and asparagine. The protein is localized to the plasma membrane and plays a key role in cellular nitrogen metabolism, pH regulation, and mTOR pathway activation. Its expression is enriched in placenta, brain, and testis, and dysregulation is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC38A5 Knockout HEK293 Cell Line | EDJ-KQ3433 | Human | 92745 | Details Get a Quote |
| SLC38A5 Knockout HCT 116 Cell Line | EDC08642 | Human | 92745 | Details Get a Quote |
| SLC38A5 Knockout HeLa Cell Line | EDJ-KQ25159 | Human | 92745 | Details Get a Quote |
| SLC38A5 Knockout A-549 Cell Line | EDJ-KQ66344 | Human | 92745 | Details Get a Quote |
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