SLC6A17: Solute Carrier Family 6 Member 17
A sodium-dependent neutral amino acid transporter involved in neurotransmitter transport and neurodevelopmental disorders.
Gene Information Card
| Symbol | SLC6A17 |
|---|---|
| Full Name | Solute Carrier Family 6 Member 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | Q9H1V8 |
| OMIM ID | 610299 |
| HGNC ID | 10996 |
| Aliases | NTT4, XT2, B(0)AT3, FLJ22175 |
Description
SLC6A17 (Solute Carrier Family 6 Member 17) encodes a sodium-dependent neutral amino acid transporter, primarily expressed in the brain. It mediates the transport of neutral amino acids such as glutamine, alanine, serine, and proline across cell membranes, playing a crucial role in neurotransmitter recycling and synaptic function. Mutations in SLC6A17 are associated with autosomal recessive intellectual developmental disorder with autism and speech delay (IDDAS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder with autism and speech delay (IDDAS) | Loss-of-function mutations impair neutral amino acid transport in neurons, disrupting neurotransmitter homeostasis and synaptic signaling. | OMIM #615054; ClinVar; multiple case reports. |
| Autism spectrum disorder | Missense and truncating variants in SLC6A17 contribute to altered glutamine/glutamate cycling, affecting excitatory/inhibitory balance. | ClinVar; literature (PMID: 27545674, 28416571). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Brain (cerebellum) | 10.2 | High |
| Brain (hippocampus) | 11.8 | High |
| Testis | 2.1 | Low |
| Kidney | 1.5 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| U-87 MG (glioblastoma) | 6.4 | Glial model |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429*) | Nonsense | Rare | Loss of function; truncated protein |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Impaired amino acid transport activity |
| c.1666C>T (p.Arg556Cys) | Missense | Rare | Reduced cell surface expression |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, reducing neutral amino acid uptake in neurons.
Gain of Function (GOF)
No gain-of-function mutations reported for SLC6A17.
Dominant Negative (DN)
No dominant-negative mutations reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005283 – neutral amino acid:sodium symporter activity | • GO:0015175 – neutral amino acid transmembrane transporter activity |
| • GO:0015816 – neutral amino acid transport | • GO:0005887 – integral component of plasma membrane |
| • GO:0043005 – neuron projection | • GO:0006836 – neurotransmitter transport |
Pathways
• Neurotransmitter uptake and recycling (Reactome: R-HSA-112310)
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)
Protein Summary
SLC6A17 is a 12-transmembrane domain protein belonging to the sodium:neurotransmitter symporter family. It functions as a sodium-dependent neutral amino acid transporter, preferentially transporting glutamine, alanine, serine, and proline. The protein is predominantly localized to synaptic vesicles and plasma membranes of neurons, where it regulates amino acid homeostasis and supports neurotransmitter synthesis. Structural modeling indicates a conserved substrate-binding pocket critical for transport activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A17 Knockout HEK293 Cell Line | EDJ-KQ15283 | Human | 388662 | Details Get a Quote |
| SLC6A17 Knockout A-549 Cell Line | EDJ-KQ45982 | Human | 388662 | Details Get a Quote |
| SLC6A17 Knockout HCT 116 Cell Line | EDC08389 | Human | 388662 | Details Get a Quote |
| SLC6A17 Knockout HeLa Cell Line | EDJ-KQ60042 | Human | 388662 | Details Get a Quote |
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