SLC6A7
Solute Carrier Family 6 Member 7 (L-Proline Transporter)
Gene Information Card
| Symbol | SLC6A7 |
|---|---|
| Full Name | Solute Carrier Family 6 Member 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 6534 ncbi.nlm.nih.gov/gene/6534 |
| Ensembl ID | ENSG00000113575 |
| UniProt ID | Q99884 |
| OMIM ID | 601916 |
| HGNC ID | 11055 |
| Aliases | PROT, PROTX |
Description
SLC6A7 encodes a sodium- and chloride-dependent L-proline transporter (PROT) that belongs to the solute carrier family 6 (neurotransmitter transporters). It is primarily expressed in the brain, where it mediates the high-affinity uptake of L-proline, a putative neurotransmitter or neuromodulator. The transporter plays a role in glutamatergic neurotransmission by regulating extracellular proline levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered proline transport may affect glutamatergic signaling; genetic association studies suggest linkage | PMID: 14574647 |
| Bipolar disorder | Potential dysregulation of proline transporter expression in brain regions | PMID: 17997379 |
| Hyperprolinemia type I | Deficiency in proline metabolism may indirectly affect transporter function | Not directly linked; inferred from metabolic pathway |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Spinal cord | 8.2 | Medium |
| Testis | 1.3 | Low |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | High expression |
| U-87 MG (glioblastoma) | 9.8 | Medium expression |
| HEK293 (embryonic kidney) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1198C>T (p.Arg400Cys) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.154G>A (p.Gly52Ser) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants described.
Dominant Negative (DN)
No dominant-negative mutations identified.
View complete mutation data：
Gene Ontology (GO)
| • neurotransmitter:sodium symporter activity (GO:0005328) | • symporter activity (GO:0015293) |
| • neurotransmitter transport (GO:0006836) | • L-proline transport (GO:0015811) |
| • integral component of plasma membrane (GO:0005887) |
Pathways
• Neurotransmitter uptake and metabolism (Reactome: R-HSA-112314)
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
Protein Summary
The SLC6A7 protein (PROT) is a 629-amino acid transmembrane transporter with 12 predicted transmembrane domains. It functions as a sodium- and chloride-dependent symporter specific for L-proline. The protein is predominantly expressed in glutamatergic neurons, where it may modulate synaptic proline levels and influence excitatory neurotransmission. Its structure and mechanism are similar to other neurotransmitter transporters in the SLC6 family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A7 Knockout HEK293 Cell Line | EDJ-KQ3044 | Human | 6534 | Details Get a Quote |
| SLC6A7 Knockout HeLa Cell Line | EDJ-KQ54494 | Human | 6534 | Details Get a Quote |
| SLC6A7 Knockout A-549 Cell Line | EDJ-KQ62980 | Human | 6534 | Details Get a Quote |
| SLC6A7 Knockout HCT 116 Cell Line | EDJ-KQ71451 | Human | 6534 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
