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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SLC26A1
solute carrier family 26 member 1
Chromosome 4 Β· 4p16.3
NCBI Gene: 10861Ensembl: ENSG00000145217.15HGNC: HGNC:10993UniProt: Q9H2B4
21PubMed Papers
22Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
solute:inorganic anion antiporter activitybasolateral plasma membranesulfate transmembrane transporter activitysulfate:bicarbonate antiporter activitynephrolithiasis susceptibility caused by SLC26A1nephrolithiasismucopolysaccharidosis type 1Hurler syndrome
✦AI Summary

SLC26A1 encodes a sodium-independent anion transporter that serves as a major determinant of sulfate homeostasis in humans 1. The protein functions as a versatile anion exchanger, mediating sulfate transport and facilitating anion exchange with bicarbonate, thiosulfate, and oxalate 2. SLC26A1 is predominantly expressed in kidney and liver, with the encoded protein containing 12 putative transmembrane domains 2. Loss-of-function variants cause hyposulfatemia and hypersulfaturia, demonstrating the transporter's critical role in renal sulfate reabsorption 1. The gene is associated with calcium oxalate nephrolithiasis, as Slc26a1-knockout mice develop hyperoxaluria and kidney stones 3. Clinical significance includes associations with musculoskeletal disorders, as sulfate is essential for bone and cartilage health 1. Human genetic studies have identified damaging SLC26A1 variants in patients with recurrent calcium oxalate stones and painful perichondritis 41. Population-level analyses confirm that rare damaging variants are associated with lower plasma sulfate levels and increased risk of musculoskeletal abnormalities 5. The transporter may also play roles in hepatic detoxification pathways, as knockout mice show increased susceptibility to acetaminophen-induced liver injury 6.

Sources cited
1
SLC26A1 is a major determinant of sulfate homeostasis in humans and loss-of-function variants cause hyposulfatemia
PMID: 36719378
2
SLC26A1 encodes a sodium-independent anion transporter with 12 transmembrane domains that mediates sulfate and anion exchange
PMID: 12713736
3
Slc26a1-knockout mice develop hyposulfatemia, hypersulfaturia, hyperoxaluria and calcium oxalate stones
PMID: 22311966
4
Genetic variants in SLC26A1 are found in patients with recurrent calcium oxalate urolithiasis
PMID: 24250268
5
Damaging SLC26A1 variants show graded effects on plasma sulfate and are associated with musculoskeletal traits
PMID: 39747595
6
SLC26A1 knockout mice show increased susceptibility to acetaminophen-induced liver injury
PMID: 41056011
Disease Associationsβ“˜22
nephrolithiasis susceptibility caused by SLC26A1Open Targets
0.67Moderate
nephrolithiasisOpen Targets
0.60Moderate
mucopolysaccharidosis type 1Open Targets
0.58Moderate
Hurler syndromeOpen Targets
0.56Moderate
Hurler-Scheie syndromeOpen Targets
0.55Moderate
Scheie syndromeOpen Targets
0.55Moderate
hypersulfaturiaOpen Targets
0.55Moderate
nephrolithiasis, calcium oxalateOpen Targets
0.46Moderate
calcium oxalate urolithiasisOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.38Weak
Interstitial pneumonitisOpen Targets
0.34Weak
mucopolysaccharidosisOpen Targets
0.34Weak
systemic sclerodermaOpen Targets
0.23Weak
systemic lupus erythematosusOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
HyperoxaluriaOpen Targets
0.17Weak
myositisOpen Targets
0.17Weak
rheumatoid arthritisOpen Targets
0.17Weak
type 1 diabetes mellitusOpen Targets
0.14Weak
lung diseaseOpen Targets
0.11Weak
HypersulfaturiaUniProt
Nephrolithiasis, calcium oxalate, 1UniProt
Pathogenic Variants1
NM_022042.4(SLC26A1):c.824T>C (p.Leu275Pro)Pathogenic
Nephrolithiasis, calcium oxalate|Hypersulfaturia
β˜†β˜†β˜†β˜†2023β†’ Residue 275
View on ClinVar β†—
Related Genes
SLC26A8Shared pathway80%SLC13A1Protein interaction60%SLC26A9Shared pathway57%SLC26A7Shared pathway56%SLC26A11Shared pathway50%SLC26A3Shared pathway44%
Tissue Expression6 tissues
Liver
100%
Ovary
15%
Bone Marrow
11%
Lung
11%
Heart
5%
Brain
1%
Gene Interaction Network
Click a node to explore
SLC26A1SLC26A8SLC13A1SLC26A9SLC26A7SLC26A11SLC26A3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H2B4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.85LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.33 [0.91–1.85]
RankingsWhere SLC26A1 stands among ~20K protein-coding genes
  • #14,015of 20,598
    Most Researched21
  • #5,369of 5,498
    Most Pathogenic Variants1
  • #16,837of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedSLC26A1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
SLC26A1 is a major determinant of sulfate homeostasis in humans.
PMID: 36719378
J Clin Invest Β· 2023
1.00
2
Human SLC26A1 gene variants: a pilot study.
PMID: 24250268
ScientificWorldJournal Β· 2013
0.90
3
Characterization of the human sulfate anion transporter (hsat-1) protein and gene (SAT1; SLC26A1).
PMID: 12713736
DNA Cell Biol Β· 2003
0.80
4
Slc13a1 and Slc26a1 KO models reveal physiological roles of anion transporters.
PMID: 22311966
Physiology (Bethesda) Β· 2012
0.70
5
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.
PMID: 39747595
Nat Genet Β· 2025
0.60