SLC7A13
Solute Carrier Family 7 Member 13
Gene Information Card
| Symbol | SLC7A13 |
|---|---|
| Full Name | Solute Carrier Family 7 Member 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 157724 ncbi.nlm.nih.gov/gene/157724 |
| Ensembl ID | ENSG00000164825 |
| UniProt ID | Q8TCU3 |
| OMIM ID | 616428 |
| HGNC ID | 23093 |
| Aliases | AGT1, XAT, SLC7A13 |
Description
SLC7A13 (Solute Carrier Family 7 Member 13) encodes a sodium-independent, high-affinity aspartate/glutamate transporter (AGT1) that mediates the exchange of L-aspartate and L-glutamate across the plasma membrane. It is predominantly expressed in the kidney, specifically in the proximal tubule, and plays a role in renal amino acid reabsorption and cellular redox balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cystinuria | Defective amino acid transport; SLC7A13 variants may contribute to altered renal handling of dibasic amino acids, though direct evidence is limited. | ClinVar, OMIM |
| Hyperuricosuria | Potential role in urate transport modulation; association not fully established. | UniProt, literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 11.8 | Medium |
| Liver | 0.5 | Not detected |
| Brain | 0.2 | Not detected |
| Testis | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | Not expressed |
| HepG2 | 0.0 | Not expressed |
| HK-2 (kidney proximal tubule) | 15.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.119G>A (p.Arg40His) | missense | <0.01% | Reduced transport activity in vitro |
| c.454C>T (p.Arg152Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg40His reduces aspartate/glutamate transport activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • high-affinity L-aspartate:sodium symporter activity (GO:0005314) | • amino acid transmembrane transporter activity (GO:0015171) |
| • aspartate transport (GO:0015810) | • L-glutamate transport (GO:0015813) |
| • integral component of membrane (GO:0016021) |
Pathways
• Amino acid transport across the plasma membrane
• Renal reabsorption of amino acids
Protein Summary
SLC7A13 (AGT1) is a 541-amino acid transmembrane protein with 12 predicted membrane-spanning domains. It functions as a sodium-independent exchanger of aspartate and glutamate, with high affinity for L-aspartate (Km ~10 µM). The protein is localized to the basolateral membrane of kidney proximal tubule cells, where it contributes to the reabsorption of acidic amino acids from the glomerular filtrate.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC7A13 Knockout HEK293 Cell Line | EDJ-KQ14499 | Human | 157724 | Details Get a Quote |
| SLC7A13 Knockout HeLa Cell Line | EDJ-KQ58765 | Human | 157724 | Details Get a Quote |
| SLC7A13 Knockout A-549 Cell Line | EDJ-KQ67247 | Human | 157724 | Details Get a Quote |
| SLC7A13 Knockout HCT 116 Cell Line | EDJ-KQ75645 | Human | 157724 | Details Get a Quote |
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