SLC38A1 (SNAT1): Sodium-Coupled Neutral Amino Acid Transporter 1
A key glutamine and neutral amino acid transporter implicated in cancer metabolism, neurological function, and cellular stress responses.
Gene Information Card
| Symbol | SLC38A1 |
|---|---|
| Full Name | Solute carrier family 38 member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.11 |
| NCBI Gene ID | 81539 ncbi.nlm.nih.gov/gene/81539 |
| Ensembl ID | ENSG00000111371 |
| UniProt ID | Q96QD8 |
| OMIM ID | 608496 |
| HGNC ID | 13447 |
| Aliases | SNAT1, ATA1, NAT2, SAT1 |
Description
SLC38A1 encodes SNAT1, a sodium-coupled neutral amino acid transporter belonging to the SLC38 family. It primarily mediates the uptake of small neutral amino acids such as glutamine, alanine, asparagine, and histidine. SNAT1 is widely expressed, with high levels in the brain, placenta, and various cancer cell lines. It plays a critical role in amino acid homeostasis, mTOR signaling, and cellular metabolism, making it a key player in cancer progression and neurological function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression of SLC38A1 enhances glutamine uptake, supporting cancer cell proliferation and survival via mTORC1 activation and nucleotide synthesis. | Multiple studies in cancer cell lines and tumor tissues (e.g., breast, lung, colorectal) show elevated SLC38A1 expression correlating with poor prognosis. |
| Neurodevelopmental disorders | Altered SLC38A1 expression may affect neurotransmitter synthesis and synaptic function, potentially contributing to intellectual disability or autism spectrum disorders. | Rare variants and expression changes reported in patient cohorts (ClinVar, literature). |
| Ischemia/reperfusion injury | SLC38A1-mediated glutamine transport may influence cellular stress responses and apoptosis in ischemic tissues. | Experimental models show altered SLC38A1 expression in ischemic brain and heart. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Strong expression in neurons, especially in cortex and hippocampus. |
| Placenta | High | Important for amino acid supply to fetus. |
| Kidney | Medium | Involved in amino acid reabsorption. |
| Liver | Low | Minimal expression in hepatocytes. |
| Skeletal Muscle | Low | Low basal expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line; high glutamine dependence. |
| MCF7 | High | Breast cancer cell line; SLC38A1 supports proliferation. |
| A549 | Medium | Lung cancer cell line; moderate expression. |
| SH-SY5Y | High | Neuroblastoma cell line; neuronal model. |
| HEK293 | Medium | Embryonic kidney cells; moderate expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Gly41Gly) | Synonymous | Rare (MAF <0.01) | No known functional effect. |
| c.456A>G (p.Ile152Met) | Missense | Rare (MAF <0.005) | Potential impact on transporter activity; not yet characterized. |
| c.789_790insA (p.Gln264Thrfs*23) | Frameshift | Very rare | Predicted loss-of-function; may reduce glutamine transport. |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations that truncate the protein likely abolish transporter function, leading to reduced glutamine uptake and potential cellular metabolic deficits.
Gain of Function (GOF)
Missense mutations that increase transporter activity or expression could enhance glutamine uptake, potentially promoting cancer cell growth; however, no such variants have been confirmed.
Dominant Negative (DN)
No evidence for dominant-negative effects; SLC38A1 functions as a monomer, and mutations are typically recessive or haploinsufficient.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity | • sodium ion binding |
| • glutamine transport | • neutral amino acid transport |
| • plasma membrane | • integral component of membrane |
| • response to amino acid starvation | • mTOR signaling pathway |
Pathways
• Amino acid transport across plasma membrane
• mTORC1 signaling
• Glutamine metabolism
• SLC-mediated transmembrane transport
Protein Summary
SNAT1 is a 485-amino acid protein with 11 transmembrane domains. It couples sodium influx to the transport of neutral amino acids, particularly glutamine. The protein is localized to the plasma membrane and also found in intracellular vesicles. It plays a role in amino acid sensing and mTORC1 activation. Post-translational modifications include phosphorylation, which may regulate its activity. SNAT1 is essential for cellular nitrogen balance and is upregulated in many cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC38A10 Knockout HEK293 Cell Line | EDJ-KQ3910 | Human | 124565 | Details Get a Quote |
| SLC38A1 Knockout HEK293 Cell Line | EDJ-KQ9707 | Human | 81539 | Details Get a Quote |
| SLC38A11 Knockout HEK293 Cell Line | EDJ-KQ10645 | Human | 151258 | Details Get a Quote |
| SLC38A12 Knockout HEK293 Cell Line | EDJ-KQ15004 | Human | 54868 | Details Get a Quote |
| SLC38A10 Knockout A-549 Cell Line | EDJ-KQ26132 | Human | 124565 | Details Get a Quote |
| SLC38A10 Knockout HeLa Cell Line | EDJ-KQ26133 | Human | 124565 | Details Get a Quote |
| SLC38A12 Knockout A-549 Cell Line | EDJ-KQ48977 | Human | 54868 | Details Get a Quote |
| SLC38A12 Knockout HCT 116 Cell Line | EDC07780 | Human | 54868 | Details Get a Quote |
| SLC38A12 Knockout HeLa Cell Line | EDJ-KQ48979 | Human | 54868 | Details Get a Quote |
| SLC38A10 Knockout HCT 116 Cell Line | EDJ-KQ24789 | Human | 124565 | Details Get a Quote |
| SLC38A1 Knockout A-549 Cell Line | EDJ-KQ36488 | Human | 81539 | Details Get a Quote |
| SLC38A1 Knockout HCT 116 Cell Line | EDJ-KQ36489 | Human | 81539 | Details Get a Quote |
| SLC38A1 Knockout HeLa Cell Line | EDJ-KQ36490 | Human | 81539 | Details Get a Quote |
| SLC38A11 Knockout HeLa Cell Line | EDJ-KQ58684 | Human | 151258 | Details Get a Quote |
| SLC38A11 Knockout A-549 Cell Line | EDJ-KQ67166 | Human | 151258 | Details Get a Quote |
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