Ask about this productRelated genes to: SLC26A1 Blocking Peptide
- Gene:
- SLC26A1 NIH gene
- Name:
- solute carrier family 26 member 1
- Previous symbol:
- -
- Synonyms:
- SAT-1, EDM4
- Chromosome:
- 4p16.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-07-30
- Date modifiied:
- 2016-02-17
Related products to: SLC26A1 Blocking Peptide
Related articles to: SLC26A1 Blocking Peptide
- The genetic architecture of idiopathic inflammatory myopathies (IIM) remains incompletely defined. When increasing sample size is not feasible, cross-trait analysis of genetically correlated diseases offer an effective strategy for discovering risk loci. Using summary statistics of IIM and B-cell lymphoma subtypes, we applied conditional false discovery rate (condFDR) and multi-trait analysis of GWAS (MTAG) to detect genetic associations with IIM risk. Single nucleotide polymorphisms (SNPs) outside the human leukocyte antigen (HLA) region meeting significance thresholds (condFDR < 0.01 or p-value < 5×10 for MTAG) were clumped and subjected to both functional annotation in FUMA and Gene Ontology (GO) biological process enrichment analysis using clusterProfiler. We identified six previously unreported loci, including three associated with dermatomyositis (12:58674304:T:C, 13:110799415:C:T, and 17:38103285:G:A) and three associated with polymyositis (PM) (4:971496:T:C, 6:396321:C:T, and 6:32650631:C:A). All non-HLA loci act as expression quantitative trait loci (eQTL) or localize within enhancer regions. Notably, these include cis-eQTLs for known IIM risk-associated genes (GSDMB, DGKQ, SLC26A1, and IDUA), as well as genes implicated in synaptic vesicle cycle (SVC) pathways, immune regulation (IKZF3, ORMDL3, IRF4, DUSP22, and SPON2), protein homeostasis (ATP23 and PSMD3), lipid metabolism (PGAP3, ORMDL3, STARD3, and DGKQ), and myopathy (COL4A1). Gene Ontology analysis revealed significant for synaptic vesicle cycle pathways in PM (FDR <0.05). These findings advance our understanding of IIM pathogenesis from a genetic perspective and highlight candidate regulatory variants for further mechanistic investigation. - Source: PubMed
Publication date: 2026/07/24
Che Weng IanJarvis James NSysojev Anton ÖbergZhu CatherinePatasova Karina Smedby Karin ELundberg Ingrid EWesterlind HelgaLamb Janine AHolmqvist Marie - Protective cerebral responses against stresses are fundamental quests of medical science. Here, we report that upregulation of histone sulfation is a protective cerebral response against ischemic injury. Ischemia upregulates the SLC26A1-PAPSS1-SULT1B1 axis, which mediates the transportation of sulfate into cells, conversion of sulfate into PAPS, and catalysis of histone sulfation (H3Y99sulf) using PAPS, respectively. Upregulated H3Y99sulf promotes metabolic genes transcription and glycolysis, sustaining cell survival in ischemic stress. In the mouse model of transient middle cerebral artery occlusion, both PAPSS1 overexpression and sulfate supplementation can boost the neuroprotective H3Y99sulf mechanism, reduce brain injury, and improve neurological functions; disruption of H3Y99sulf exacerbates ischemia-induced brain injury and counteracts the neuroprotective effect of sulfate. Ischemia patients with higher serum sulfate levels are prone to have smaller infarcts, alleviated severity assessments, and better clinical outcomes. This study unearths an undocumented protective cerebral response against ischemia that might be targeted for ischemic stroke treatment. - Source: PubMed
Jiang LiXie JunchangWang JianfengYi YiliZhou RunxinGuo DingyuanWang YuZeng XiaoShi MingxuanDing JianingWu JiadiZhao JunFeng SiyuWang NanShen QianYin YupingLi MingchangWang Yugang - Medullary sponge kidney (MSK) is characterized by precalyceal dilatation of the renal tubules. This entity is associated with recurrent kidney stone disease (KSD). Although etiopathogenesis is unknown, genetic origin is suspected. - Source: PubMed
Publication date: 2026/03/06
Tournebize CorentinRobert ThomasAbid NadiaDe Mul AurélieSchleef MaximeLefevre FloraDubourg LaurenceDancer MarineLetavernier EmmanuelLemoine Sandrine - Sulfate is essential for the sulfation of proteoglycans to maintain cell function. The mechanisms regulating the 'ins and outs' of systemic sulfate balance remain incompletely understood. SLC26A1 is an anion exchanger expressed in the kidney. It has recently been identified as a key regulator of plasma sulfate homeostasis in humans. This review summarizes current insights into SLC26A1 function and its role in human diseases. - Source: PubMed
Publication date: 2025/10/03
Pitzken FelixKöttgen AnnaAronson Peter SKnauf Felix - Intron gain and loss are rare events in vertebrates; however, comparative genome analysis of elephant sharks, tetrapods, and teleosts revealed a higher level of intron turnover in teleosts. slc26a1 and slc26a2 are members of the anion-exchanger gene family. Human, zebrafish, and Japanese pufferfish slc26a1 consist of two, two, and seven exons, respectively, and slc26a2, two, three, and four exons, respectively. To better understand intron turnover in teleosts, we analyzed the exon-intron organization of slc26a1 and slc26a2 in 81 vertebrates, including 62 ray-finned fish. In most Eurypterygii, which comprise the majority of the Neoteleostei and include Acanthomorpha, Aulopiformes, and Myctophiformes, slc26a1 and slc26a2 have seven and four exons, respectively, whereas those of most other ray-finned fishes consist of two and three exons, respectively, suggesting that intron gain occurred in both slc26a1 and slc26a2 of the Eurypterygii ancestor. In addition, notothenioid slc26a2 has six exons, suggesting that two introns were inserted into the notothenioid ancestor. The two newly acquired introns in the notothenioid consist of transposon-like sequences, suggesting that they were generated via transposon insertion. The positions of some of the newly acquired introns of slc26a1 and slc26a2 in Eurypterygii are identical or very close to those of other slc26 members. These results demonstrate the lineage-specific intron gains of slc26a1 and slc26a2 in ray-finned fish and convergence at the insertion sites of some of the newly acquired introns. - Source: PubMed
Publication date: 2025/08/16
Torii KotaOta ChihiroNagashima AyumiKajikawa MasakiKato Akira