SLC6A15: Solute Carrier Family 6 Member 15
A sodium-dependent neutral amino acid transporter involved in neurotransmission and metabolic regulation.
Gene Information Card
| Symbol | SLC6A15 |
|---|---|
| Full Name | Solute Carrier Family 6 Member 15 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q21.31 |
| NCBI Gene ID | 55117 ncbi.nlm.nih.gov/gene/55117 |
| Ensembl ID | ENSG00000172062 |
| UniProt ID | Q9H2J7 |
| OMIM ID | 607971 |
| HGNC ID | 11022 |
| Aliases | NTT73, SBAT1, V7-3, hV7-3 |
Description
SLC6A15 (Solute Carrier Family 6 Member 15) encodes a sodium-dependent neutral amino acid transporter that preferentially transports branched-chain and aromatic amino acids such as leucine, isoleucine, valine, methionine, and phenylalanine. It is highly expressed in the brain, particularly in neurons, and plays a role in neurotransmitter precursor uptake and metabolic signaling. The gene is located on chromosome 12q21.31 and is associated with psychiatric disorders and metabolic traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Major depressive disorder | Altered transporter expression may affect amino acid availability for neurotransmitter synthesis, contributing to mood dysregulation. | Association studies (PMID: 21804562) |
| Bipolar disorder | Variants in SLC6A15 may influence neuronal amino acid homeostasis and synaptic function. | GWAS (PMID: 21926972) |
| Obesity | SLC6A15 expression in hypothalamus may regulate appetite and energy balance via branched-chain amino acid transport. | Expression QTL studies (PMID: 25673435) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 8.3 | Medium |
| Kidney | 6.1 | Medium |
| Liver | 2.4 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Overexpression system |
| HepG2 (hepatocellular carcinoma) | 3.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3785161 (intronic) | SNV | 0.15 (global) | Associated with altered expression in brain |
| rs2060546 (intronic) | SNV | 0.22 (global) | Linked to major depressive disorder risk |
| c.1123G>A (p.Gly375Arg) | Missense | <0.01 | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data:
Gene Ontology (GO)
| • sodium:amino acid symporter activity (GO:0005283) | • neutral amino acid transmembrane transporter activity (GO:0015175) |
| • aspartate transport (GO:0015810) | • glycine transport (GO:0015816) |
| • integral component of plasma membrane (GO:0005887) | • integral component of membrane (GO:0016021) |
Pathways
• REACT:13685~Neurotransmitter uptake and metabolism
• REACT:111045~Amino acid transport across the plasma membrane
• WP:WP822~SLC-mediated transmembrane transport
Protein Summary
The SLC6A15 protein is a 729-amino acid transmembrane transporter with 12 putative membrane-spanning domains. It functions as a sodium-dependent symporter for neutral amino acids, particularly branched-chain and aromatic amino acids. The protein is predominantly expressed in neurons, where it localizes to the plasma membrane and contributes to the uptake of amino acid precursors for neurotransmitter synthesis. Its activity is regulated by substrate availability and membrane potential.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A15 Knockout HEK293 Cell Line | EDJ-KQ14495 | Human | 55117 | Details Get a Quote |
| SLC6A15 Knockout A-549 Cell Line | EDJ-KQ45979 | Human | 55117 | Details Get a Quote |
| SLC6A15 Knockout HeLa Cell Line | EDJ-KQ45981 | Human | 55117 | Details Get a Quote |
| SLC6A15 Knockout HCT 116 Cell Line | EDJ-KQ73480 | Human | 55117 | Details Get a Quote |
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