ArticleAmerican journal of physiology. Renal physiology2010
Single nucleotide polymorphisms in the human Na+-dicarboxylate cotransporter affect transport activity and protein expression.
Article in American journal of physiology. Renal physiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 27 citations in OpenAlex.
- Structures of the human sodium-citrate cotransporter NaCT with and without substrates.Structure (London, England : 1993) · 2026Article
- Structures of the human sodium-citrate cotransporter NaCT with and without substrates.bioRxiv : the preprint server for biology · 2026Article
- Investigation of rs11568476 Polymorphism in theBiomedicines · 2025Article
- Substrate translocation and inhibition in human dicarboxylate transporter NaDC3.Nature structural & molecular biology · 2025Article
- Cryo-EM structures of the human NaS1 and NaDC1 transporters revealed the elevator transport and allosteric regulation mechanism.Science advances · 2024Article
- Non-Aquaporin Water Channels.Advances in experimental medicine and biology · 2023Article
- Butyric and Citric Acids and Their Salts in Poultry Nutrition: Effects on Gut Health and Intestinal Microbiota.International journal of molecular sciences · 2021Review
- NaCT/SLC13A5 facilitates citrate import and metabolism under nutrient-limited conditions.Cell reports · 2021Article
- Review
- rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis.Genes & genomics · 2018Article
- Transcriptome analysis in primary colorectal cancer tissues from patients with and without liver metastases using next-generation sequencing.Cancer medicine · 2017Article
- Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers.Journal of nephrology · 2017Article
- Expression of sodium-dependent dicarboxylate transporter 1 (NaDC1/SLC13A2) in normal and neoplastic human kidney.American journal of physiology. Renal physiology · 2017Article
- Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay.Molecular medicine (Cambridge, Mass.) · 2016Article
- Determinants of substrate and cation transport in the human Na+/dicarboxylate cotransporter NaDC3.The Journal of biological chemistry · 2014Article
- Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family.Pflugers Archiv : European journal of physiology · 2014Review
- Article
- NovelSNPer: A Fast Tool for the Identification and Characterization of Novel SNPs and InDels.Advances in bioinformatics · 2011Article
- SNPs of metabolism, not stones.American journal of physiology. Renal physiology · 2010Article
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Abstract
The sodium-coupled transport of citric acid cycle intermediates in the intestine and kidney is mediated by the Na(+)-dicarboxylate cotransporter, NaDC1. In the kidney, NaDC1 plays an important role in regulating succinate and citrate concentrations in the urine, which may have physiological consequences including the development of kidney stones. In the present study, the impact of nonsynonymous single nucleotide polymorphisms (SNPs) on NaDC1 expression and function was characterized using the COS-7 cell heterologous expression system. The I550V variant had an increased sensitivity to lithium inhibition although there were no significant effects on protein abundance. The L44F variant had no significant effects on expression or function. The membrane protein abundance of the M45L, V117I, and F254L variants was decreased, with corresponding decreases in transport activity. The A310P variant had decreased protein abundance as well as a change in substrate selectivity. The P385S variant had a large decrease in succinate transport V(max), as well as altered substrate selectivity, and a change in the protein glycosylation pattern. The most damaging variant was V477M, which had decreased affinity for both succinate and sodium. The V477M variant also exhibited stimulation by lithium, indicating a change in the high-affinity cation binding site. We conclude that most of the naturally occurring nonsynonymous SNPs affect protein processing of NaDC1, and several also affect functional properties. All of these mutations are predicted to decrease transport activity in vivo, which would result in decreased intestinal and renal absorption of citric acid cycle intermediates.
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