SLC13A1: Solute Carrier Family 13 Member 1
Sodium/sulfate cotransporter involved in sulfate homeostasis and renal transport
Gene Information Card
| Symbol | SLC13A1 |
|---|---|
| Full Name | Solute Carrier Family 13 Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.32 |
| NCBI Gene ID | 6561 ncbi.nlm.nih.gov/gene/6561 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q9Y6M7 |
| OMIM ID | 606193 |
| HGNC ID | 10919 |
| Aliases | NaSi-1, NAS1, SUT-1, SUT1 |
Description
SLC13A1 encodes a sodium/sulfate cotransporter (NaSi-1) that mediates the renal reabsorption and intestinal absorption of sulfate. The protein is a member of the SLC13 family of sodium-coupled anion transporters and is critical for maintaining sulfate homeostasis, which is essential for detoxification, hormone synthesis, and extracellular matrix composition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sulfate transporter deficiency (renal hypouricemia with sulfate wasting) | Loss-of-function mutations impair renal sulfate reabsorption, leading to low serum sulfate and increased urinary sulfate excretion. | ClinVar, OMIM |
| Hypo-uricemia, renal, with sulfate wasting | Defective SLC13A1 reduces sulfate reabsorption, indirectly affecting urate transport. | OMIM #606193 |
| Osteoporosis (susceptibility) | Altered sulfate homeostasis may affect proteoglycan synthesis in bone. | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Small intestine | 8.3 | Medium |
| Liver | 2.1 | Low |
| Colon | 1.8 | Low |
| Placenta | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in recombinant systems |
| Caco-2 | 9.7 | Intestinal epithelial model |
| HK-2 | 11.4 | Renal proximal tubule model |
| HepG2 | 1.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Loss of function; premature truncation |
| c.425G>A (p.Arg142Gln) | Missense | <0.01% | Reduced sulfate transport activity |
| c.763C>T (p.Arg255Trp) | Missense | <0.01% | Impaired membrane localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg34*, p.Arg142Gln) reduce or abolish sulfate transport activity, leading to renal sulfate wasting.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC13A1.
Dominant Negative (DN)
No dominant-negative mutations described for SLC13A1.
View complete mutation data：
Gene Ontology (GO)
| • sulfate transport (GO:0008272) | • sulfate transmembrane transporter activity (GO:0015116) |
| • symporter activity (GO:0015293) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) | • sodium ion transport (GO:0006814) |
Pathways
• Sulfate transport (Reactome: R-HSA-428542)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
• Transport of inorganic ions (Reactome: R-HSA-425393)
Protein Summary
SLC13A1 encodes a 595-amino acid sodium/sulfate cotransporter (NaSi-1) with 13 transmembrane domains. It localizes to the apical membrane of renal proximal tubule cells and intestinal enterocytes, where it couples the inward sodium gradient to sulfate uptake. The protein is essential for sulfate homeostasis; deficiency leads to renal sulfate wasting and low serum sulfate levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC13A1 Knockout HEK293 Cell Line | EDJ-KQ5788 | Human | 6561 | Details Get a Quote |
| SLC13A1 Knockout HeLa Cell Line | EDJ-KQ54508 | Human | 6561 | Details Get a Quote |
| SLC13A1 Knockout A-549 Cell Line | EDJ-KQ62993 | Human | 6561 | Details Get a Quote |
| SLC13A1 Knockout HCT 116 Cell Line | EDJ-KQ71464 | Human | 6561 | Details Get a Quote |
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