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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC13A1
solute carrier family 13 member 1
Chromosome 7 · 7q31.32
NCBI Gene: 6561Ensembl: ENSG00000081800.10HGNC: HGNC:10916UniProt: A4D0X1
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sodium:sulfate symporter activitysodium ion transportsulfate transmembrane transportplasma membranealcohol drinkingneurodegenerative diseasehypopituitarismdiabetes mellitus
✦AI Summary

SLC13A1 encodes NaS1, a sodium-dependent sulfate cotransporter that plays a critical role in sulfate homeostasis by mediating sulfate reabsorption across renal proximal tubule and small intestinal epithelia 12. The protein consists of 595 amino acids with 13 putative transmembrane domains and functions as an electrogenic symporter with a 3:1 Na+:sulfate coupling ratio 3. Recent cryo-electron microscopy structures have revealed the detailed molecular mechanism of the Na+-sulfate cotransport cycle and substrate recognition 4. Beyond sulfate, NaS1 can also transport selenate and thiosulfate, with activity inhibited by molybdate, tungstate, citrate, and succinate 12. The transporter is primarily expressed in kidney and intestine, with expression regulated by sulfate availability, hormones, and metabolic conditions 2. Disruption of murine SLC13A1 leads to hyposulfatemia, hypersulfaturia, and multiple pathophysiological changes affecting metabolism, growth, and organ function 25. In humans, rare damaging variants in SLC13A1 exhibit graded effects on plasma sulfate levels and are associated with musculoskeletal traits, highlighting its clinical significance in sulfate-dependent physiological processes 6.

Sources cited
1
SLC13A1 encodes a 595-amino acid protein with 13 transmembrane domains that functions as a high-affinity Na+-sulfate cotransporter expressed in human kidney
PMID: 11161786
2
NaS1 mediates sulfate reabsorption across renal and intestinal epithelia, transports sulfate/thiosulfate/selenate, and its disruption causes hyposulfatemia and multiple pathophysiological changes
PMID: 24193406
3
SLC13 family proteins function as electrogenic symporters with 3:1 Na+:anion coupling ratio and preference for divalent anions
PMID: 23177988
4
Cryo-EM structures reveal the detailed molecular mechanism of substrate recognition and conformational changes during the Na+-sulfate cotransport cycle
PMID: 39576865
5
Disruption of murine NaS1 leads to hyposulfatemia and hypersulfaturia
PMID: 22311966
6
Rare damaging variants in SLC13A1 show graded effects on plasma sulfate levels and are associated with musculoskeletal traits in humans
PMID: 39747595
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.34Weak
hypopituitarismOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
Crohn's diseaseOpen Targets
0.06Suggestive
cancerOpen Targets
0.04Suggestive
Generalized epilepsy with febrile seizures-plusOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisOpen Targets
0.04Suggestive
epilepsy, early-onset, 3, with or without developmental delayOpen Targets
0.04Suggestive
musculoskeletal system diseaseOpen Targets
0.04Suggestive
autosomal dominant epilepsy with auditory featuresOpen Targets
0.04Suggestive
adenine phosphoribosyltransferase deficiencyOpen Targets
0.04Suggestive
Dent diseaseOpen Targets
0.04Suggestive
Dent disease type 1Open Targets
0.04Suggestive
Autosomal dominant primary hypomagnesemia with hypocalciuriaOpen Targets
0.04Suggestive
renal hypomagnesemia 2Open Targets
0.04Suggestive
Fanconi renotubular syndrome 1Open Targets
0.03Suggestive
galactokinase deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC26A2Protein interaction91%SLC26A3Protein interaction83%PSMD2Protein interaction76%SLC26A1Protein interaction60%ASIC4Shared pathway50%SLC13A4Shared pathway42%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
SLC13A1SLC26A2SLC26A3PSMD2SLC26A1ASIC4SLC13A4
PROTEIN STRUCTURE
Preparing viewer…
PDB8Y5W · 2.73 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.65–1.05]
RankingsWhere SLC13A1 stands among ~20K protein-coding genes
  • #14,012of 20,598
    Most Researched21
  • #10,464of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedSLC13A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structural basis for the reaction cycle and transport mechanism of human Na
PMID: 39576865
Sci Adv · 2024
1.00
2
Na+-sulfate cotransporter SLC13A1.
PMID: 24193406
Pflugers Arch · 2014
0.90
3
Sodium-sulfate/carboxylate cotransporters (SLC13).
PMID: 23177988
Curr Top Membr · 2012
0.80
4
Slc13a1 and Slc26a1 KO models reveal physiological roles of anion transporters.
PMID: 22311966
Physiology (Bethesda) · 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 · 2025
0.60