Ask about this productRelated genes to: SLC19A3 antibody
- Gene:
- SLC19A3 NIH gene
- Name:
- solute carrier family 19 member 3
- Previous symbol:
- -
- Synonyms:
- THTR2
- Chromosome:
- 2q36.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-07-19
- Date modifiied:
- 2017-04-20
Related products to: SLC19A3 antibody
Related articles to: SLC19A3 antibody
- Brown adipocytes consume higher amounts of metabolic substrates and regulators, including thiamine, during adrenergic stimulation, supporting heat generation. Our previous findings showed that fedratinib, a potent inhibitor of thiamine transporter (ThTr) 2 and Janus kinase 2 (JAK2), reduced thermogenic activity; however, the underlying molecular mechanisms remain elusive. - Source: PubMed
Publication date: 2026/02/10
Karadsheh GyathKovács EmíliaAlrifai RahafSeo MizukiGyőry FerencCsatári-Kovács RenátaCsősz ÉvaPóliska SzilárdFésüs LászlóArianti RiniKristóf Endre - We found that andrographolide (AP), the main active component of medicinal herb , inhibited the differentiation of adipose-derived stem cells (ADSCs) toward adipocytes in culture and in mice fed with high fat diet. RNA-seq analyses revealed that the induction of SLC19A3, a thiamine transporter, was blocked by AP, and knockdown of SLC19A3 abolished the adipogenic differentiation. Further, supplementing thiamine to cultured ADSCs reversed the inhibitory effect of AP dose-dependently, indicating that SLC19A3 mediates the action of AP on adipogenic differentiation. Interestingly, the differentiation of ADSCs was accompanied by the reduction of S9-phosphorylated GSK3β, which was prevented by AP. Subsequent investigation showed that AP and a GSK3β inhibitor upregulated Snail1, a transcriptional repressor influencing cell differentiation. While enforced expression of Snail1 reduced the luciferase activity of the SLC19A3 reporter, siRNA against Snail1 blocked the inhibition of AP on SLC19A3 expression. Thus, the GSK3β-Snail1-SLC19A3 axis mediates the anti-adipogenic action of andrographolide. - Source: PubMed
Publication date: 2025/12/08
Yang YiliWang XuanZhou GuangfengHou XiaodanHe YangFeng YuanJiang YuxueGu YuexiYe Jun - Learning and memory, as fundamental components of human cognition, are heritable traits that are highly variable between individuals and within populations. Investigation into the genetic basis of cognition is a prominent area of research, with genetic associations being previously reported for a wide range of cognitive phenotypes. Here we utilise a genome-wide association study (GWAS) approach to evaluate the contribution of genetic variation to learning and memory phenotypes in a comprehensively phenotyped, well-characterised, healthy, and unrelated cohort of individuals (n = 613). Cognitive phenotypes were assessed using nine comprehensive test batteries consisting of twenty-one cognitive performance assessments including IQ, five measures for visual and verbal learning, and fifteen measures for semantic, working, episodic and prospective memory. Principal component analysis was utilised to amalgamate correlated test scores into additional new cognitive phenotypes. Our study identified genome wide significant associations for 13 loci across all phenotypes. A novel association was identified between the rs817826 SNP at 9q31.2 and verbal learning discrimination (p = 2.71 × 10). GWAS of cognitive PCs identified three variants in the vicinity of thiamine (Vitamin B) transporter gene SLC19A3 (most significant SNP rs12105620, p = 2.17 × 10), a 3' UTR variant in PPARD (rs9658167, p = 1.47 × 10), and an intronic variant in RBFOX1 (rs17138790, p = 4.24 × 10) associated with the cognitive PC related to visual and verbal learning. The cognitive PC relating to prospective and retrospective memory revealed a locus containing a synonymous variant in NXPE3 (rs2305990, p = 6.56 × 10) and intronic variants in RD3 (rs17189035, p = 2.71 × 10) and WLS/GNG12-AS1 (rs17130484, p = 4.13 × 10). Pathway analysis identified olfactory, vitamin A, and cadherin pathways as being significantly overrepresented across multiple cognitive domains. The novel associations identified provide candidates for further investigation and necessitate replication in similarly characterised independent cohorts. - Source: PubMed
Publication date: 2025/12/18
Hopkins Lloyd NAvgan NesliSutherland Heidi GFernandez Francesca EKnowles Emma E MHaupt Larisa MBlangero JohnGlahn David CShum David H KLea Rod AGriffiths Lyn R - SLC19A3 is a member of the SLC19 gene family, responsible for thiamine uptake in various tissues, including the liver, brain, kidneys, and gut. Although recent structural studies have resolved distinct conformational states of SLC19A3, the mechanistic basis for substrate recognition and binding remains incompletely understood. Furthermore, comparative studies investigating the effects of different mutations on the two conformations are lacking. To address these gaps, molecular dynamics simulations were employed to investigate the interaction mechanism between SLC19A3 and various substrates. Our results highlighted mutation effects on distinct conformational states. Comparative analysis of different ligands revealed significant changes in complex dynamics in the outward-open conformation, resulting in weaker binding to thiamine but stronger binding to amprolium and fedratinib. In contrast, the inward-open conformation maintained conserved binding modes for all ligands. A comprehensive understanding of SLC19A3's molecular mechanisms is essential for elucidating mutation-induced pathogenesis and developing novel treatment approaches. - Source: PubMed
Publication date: 2025/11/07
Zhang EnhaoXu XiaoleLiu JinxinLuo SongDuan Lili - Inborn errors of metabolism are a prevalent cause of pediatric neurological abnormalities, often resulting from enzyme deficiencies that disrupt metabolic pathways. Understanding the radiological manifestations of these disorders is critical for timely diagnosis and therapy. This study aimed to elucidate the magnetic resonance imaging (MRI) brain characteristics and magnetic resonance spectroscopy (MRS) findings of specific treatable pediatric neurometabolic disorders through clinical vignettes, thereby enhancing diagnostic accuracy and informing therapeutic approaches. The study includes four cases with varying presentations, all confirmed by genetic testing, and utilized magnetic resonance imaging and spectroscopy to identify characteristic features. The first case, diagnosed as thiamine metabolism dysfunction syndrome type 4, exhibits bilateral corpus striatum T2 hyperintensities with diffusion restriction on MRI brain, increased lactate peak, and reduced N-acetylaspartate (NAA) on magnetic resonance spectroscopy (MRS), and SLC25A19 gene mutation on genetic analysis - features consistent with biotin-thiamine-responsive basal ganglia disease. The second case, identified as thiamine metabolism dysfunction syndrome type 2, reveals T2 hyperintensities in the bilateral corpus striatum, medial thalami, and cerebellar white matter, along with restricted diffusion, reduced NAA, and an inverted lactate doublet on MRS, with genetic analysis confirming an SLC19A3 mutation, also falling under the spectrum of biotin-thiamine-responsive basal ganglia disease. The third case, representing cerebral creatine deficiency syndrome type 2, demonstrates bilateral symmetric T2 hyperintensities in the globus pallidus and central tegmental tracts, a characteristic absence of a creatine peak on MRS, and a confirmed guanidomethyl transferase (GAMT) deficiency gene mutation. The fourth case, diagnosed as hypermanganesemia with dystonia type 2, is characterized by T1 hyperintensity and T2 hypointensity involving the bilateral globus pallidi, substantia nigra, and dentate nuclei, with genetic testing revealing an SLC39A14 mutation. The study emphasizes the importance of MR imaging and spectroscopy in identifying pediatric neurometabolic diseases that can be treated. - Source: PubMed
Publication date: 2025/08/14
Eda Ishani ReddyRamachandran RajooJoseph Veena MMarreddy SahithiMounika Arikila