SLC26A1: Solute Carrier Family 26 Member 1
Oxalate and sulfate transporter involved in kidney stone disease and metabolic regulation
Gene Information Card
| Symbol | SLC26A1 |
|---|---|
| Full Name | Solute Carrier Family 26 Member 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 10861 ncbi.nlm.nih.gov/gene/10861 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9H2B4 |
| OMIM ID | 606718 |
| HGNC ID | 10988 |
| Aliases | SAT1, SAT-1, MGC126562 |
Description
SLC26A1 (Solute Carrier Family 26 Member 1) encodes a transmembrane protein that functions as an oxalate and sulfate transporter. It is primarily expressed in the kidney and liver, where it mediates the exchange of oxalate and sulfate across the plasma membrane. This gene plays a critical role in oxalate homeostasis and has been implicated in the pathogenesis of calcium oxalate kidney stones. Mutations in SLC26A1 can lead to altered oxalate transport and increased risk of nephrolithiasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephrolithiasis (calcium oxalate kidney stones) | Loss-of-function mutations reduce oxalate transport, leading to hyperoxaluria and stone formation | ClinVar, OMIM |
| Primary hyperoxaluria (mild form) | Defective oxalate excretion increases urinary oxalate levels | OMIM #606718 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Small intestine | 5.1 | Low |
| Colon | 4.2 | Low |
| Pancreas | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| HepG2 | 7.8 | Endogenous expression |
| Caco-2 | 4.5 | Intestinal epithelial model |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1645C>T (p.Arg549Trp) | Missense | Rare | Reduced oxalate transport activity |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Impaired sulfate transport |
| c.1966delC (p.Leu656Trpfs*12) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish oxalate/sulfate transport activity, associated with hyperoxaluria and kidney stone risk.
Gain of Function (GOF)
Not reported for SLC26A1.
Dominant Negative (DN)
Not reported for SLC26A1.
View complete mutation data:
Gene Ontology (GO)
| • sulfate transport (GO:0008272) | • protein metabolic process (GO:0019538) |
| • sulfate transmembrane transporter activity (GO:0015116) | • oxalate transmembrane transporter activity (GO:0015143) |
| • plasma membrane (GO:0005886) |
Pathways
• Oxalate transport and metabolism
• Sulfate transport
• SLC-mediated transmembrane transport
Protein Summary
The SLC26A1 protein (SAT1) is a 722-amino acid multi-pass transmembrane protein belonging to the SLC26 family of anion exchangers. It mediates the electroneutral exchange of oxalate and sulfate across the plasma membrane, with a preference for oxalate. The protein is highly expressed in the basolateral membrane of renal proximal tubule cells and hepatocytes, where it facilitates the excretion of oxalate into the urine and bile. Structural studies indicate a conserved sulfate transporter domain. Dysfunction of SLC26A1 leads to accumulation of oxalate, contributing to calcium oxalate crystal formation and kidney stone disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC26A1 Knockout HEK293 Cell Line | EDJ-KQ7191 | Human | 10861 | Details Get a Quote |
| SLC26A11 Knockout HEK293 Cell Line | EDJ-KQ15321 | Human | 284129 | Details Get a Quote |
| SLC26A1 Knockout HCT 116 Cell Line | EDJ-KQ32133 | Human | 10861 | Details Get a Quote |
| SLC26A11 Knockout A-549 Cell Line | EDJ-KQ46029 | Human | 284129 | Details Get a Quote |
| SLC26A11 Knockout HCT 116 Cell Line | EDJ-KQ46030 | Human | 284129 | Details Get a Quote |
| SLC26A11 Knockout HeLa Cell Line | EDJ-KQ44812 | Human | 284129 | Details Get a Quote |
| SLC26A1 Knockout HeLa Cell Line | EDJ-KQ55502 | Human | 10861 | Details Get a Quote |
| SLC26A1 Knockout A-549 Cell Line | EDJ-KQ63991 | Human | 10861 | Details Get a Quote |
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