SLC1A7: Solute Carrier Family 1 Member 7
Glutamate Transporter EAAT5: Retinal Function and Disease Associations
Gene Information Card
| Symbol | SLC1A7 |
|---|---|
| Full Name | Solute Carrier Family 1 Member 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 6512 ncbi.nlm.nih.gov/gene/6512 |
| Ensembl ID | ENSG00000162383 |
| UniProt ID | O00341 |
| OMIM ID | 604471 |
| HGNC ID | 10945 |
| Aliases | EAAT5, excitatory amino acid transporter 5 |
Description
SLC1A7 (Solute Carrier Family 1 Member 7) encodes the excitatory amino acid transporter 5 (EAAT5), a sodium-dependent glutamate transporter primarily expressed in the retina. EAAT5 is localized to photoreceptor and bipolar cell terminals, where it mediates glutamate clearance from the synaptic cleft, modulates visual signal transmission, and may act as a glutamate-gated chloride channel. Mutations in SLC1A7 are associated with retinal dystrophies and night blindness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (RP) | Loss-of-function mutations impair glutamate clearance, leading to excitotoxicity and photoreceptor degeneration. | ClinVar, OMIM #604471 |
| Night blindness, congenital stationary (CSNB) | Defective EAAT5 alters synaptic transmission in rod bipolar cells, disrupting dim-light vision. | ClinVar, OMIM #604471 |
| Macular dystrophy | Reduced glutamate uptake in cone pathways contributes to central vision loss. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | High |
| Brain (cerebellum) | 0.8 | Low |
| Testis | 0.3 | Low |
| Spinal cord | 0.2 | Low |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 0.5 | Low expression |
| SH-SY5Y (neuroblastoma) | 0.2 | Very low |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Reduced glutamate transport activity; associated with retinitis pigmentosa |
| c.1243C>T (p.Arg415Trp) | Missense | <0.01% | Impaired chloride channel function; linked to congenital stationary night blindness |
| c.1666C>T (p.Arg556*) | Nonsense | <0.01% | Premature truncation; loss of function; reported in macular dystrophy |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations (e.g., p.Gly38Arg, p.Arg556*) reduce or abolish glutamate uptake and chloride conductance, leading to retinal excitotoxicity.
Gain of Function (GOF)
No gain-of-function mutations reported for SLC1A7.
Dominant Negative (DN)
Not established; most pathogenic variants are recessive or compound heterozygous.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutamate Neurotransmitter Release Cycle (Reactome R-HSA-210500)
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome R-HSA-425393)
• Neurotransmitter uptake and metabolism in glial cells (KEGG hsa04724)
Protein Summary
EAAT5 is a 560-amino acid transmembrane protein with 8-10 helical domains. It functions as a sodium-dependent glutamate transporter and a glutamate-gated chloride channel. In the retina, EAAT5 is expressed on presynaptic terminals of photoreceptors and bipolar cells, where it clears synaptic glutamate and modulates feedback inhibition. Its chloride conductance contributes to hyperpolarization of synaptic terminals, regulating neurotransmitter release. Structural studies show a trimeric assembly typical of the SLC1 family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC1A7 Knockout HEK293 Cell Line | EDJ-KQ5764 | Human | 6512 | Details Get a Quote |
| SLC1A7 Knockout HeLa Cell Line | EDJ-KQ54481 | Human | 6512 | Details Get a Quote |
| SLC1A7 Knockout A-549 Cell Line | EDJ-KQ62967 | Human | 6512 | Details Get a Quote |
| SLC1A7 Knockout HCT 116 Cell Line | EDJ-KQ71438 | Human | 6512 | Details Get a Quote |
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