SLC17A7 (VGLUT1) - Vesicular Glutamate Transporter 1
Key regulator of glutamatergic neurotransmission and synaptic plasticity
Gene Information Card
| Symbol | SLC17A7 |
|---|---|
| Full Name | solute carrier family 17 member 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000104888 |
| UniProt ID | Q9P2U7 |
| OMIM ID | 191170 |
| HGNC ID | 11007 |
| Aliases | BNPI, VGLUT1, DKFZp686H24244 |
Description
SLC17A7 encodes vesicular glutamate transporter 1 (VGLUT1), a transmembrane protein that loads glutamate into synaptic vesicles for exocytotic release at glutamatergic synapses. VGLUT1 is essential for excitatory neurotransmission, synaptic plasticity, and cognitive functions. Its expression is predominantly in the brain, especially in cortex, hippocampus, and cerebellum.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered glutamate loading and synaptic excitability | ClinVar: pathogenic variants associated with early-onset epileptic encephalopathy |
| Autism spectrum disorder | Dysregulation of glutamatergic signaling | OMIM: 191170; association studies |
| Alzheimer disease | Reduced VGLUT1 expression correlates with synaptic loss | NCBI Gene: expression studies in postmortem brain |
| Schizophrenia | Glutamatergic hypofunction hypothesis | UniProt: Q9P2U7; genetic association studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cortex) | 32.5 | High |
| Brain (hippocampus) | 28.9 | High |
| Brain (cerebellum) | 25.1 | High |
| Brain (amygdala) | 22.3 | High |
| Testis | 1.2 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Neuronal model |
| U-87 MG (glioblastoma) | 0.8 | Low expression |
| HEK293 (embryonic kidney) | 0.1 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% | Loss of glutamate transport activity |
| c.1432G>A (p.Gly478Arg) | Missense | <0.01% | Impaired vesicular loading |
| c.1657C>T (p.Arg553*) | Nonsense | <0.01% | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants reduce or abolish glutamate transport, leading to synaptic dysfunction and epilepsy.
Gain of Function (GOF)
Not reported in SLC17A7.
Dominant Negative (DN)
Not reported; haploinsufficiency is likely pathogenic.
View complete mutation data：
Gene Ontology (GO)
Pathways
• R-HSA-112314: Neurotransmitter release cycle
• R-HSA-112315: Transmission across chemical synapses
• R-HSA-112316: Glutamate neurotransmitter release cycle
• WP471: Glutamatergic synapse
Protein Summary
VGLUT1 (UniProt Q9P2U7) is a 560-amino acid integral membrane protein with 12 transmembrane domains. It mediates the uptake of glutamate into synaptic vesicles driven by a proton electrochemical gradient. VGLUT1 is the most abundant vesicular glutamate transporter in the brain and is a marker for glutamatergic neurons. Its expression is tightly regulated during development and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC17A7 Knockout HEK293 Cell Line | EDJ-KQ15301 | Human | 57030 | Details Get a Quote |
| SLC17A7 Knockout HCT 116 Cell Line | EDJ-KQ45998 | Human | 57030 | Details Get a Quote |
| SLC17A7 Knockout HeLa Cell Line | EDJ-KQ56790 | Human | 57030 | Details Get a Quote |
| SLC17A7 Knockout A-549 Cell Line | EDJ-KQ65296 | Human | 57030 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
