8s62

Structural highlights

Disease

S19A3_HUMAN Thiamine-responsive encephalopathy;Biotin-thiamine-responsive basal ganglia disease;Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome. The disease is caused by variants affecting the gene represented in this entry.

Function

S19A3_HUMAN Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism (PubMed:11731220, PubMed:33008889, PubMed:35512554, PubMed:35724964). Has no folate transport activity (PubMed:11731220). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964, PubMed:36456177).^{[1] [2] [3] [4] [5]}

References

1. ↑ Rajgopal A, Edmondnson A, Goldman ID, Zhao R. SLC19A3 encodes a second thiamine transporter ThTr2. Biochim Biophys Acta. 2001 Nov 29;1537(3):175-8. PMID:11731220 doi:10.1016/s0925-4439(01)00073-4
2. ↑ Yamashiro T, Yasujima T, Said HM, Yuasa H. pH-dependent pyridoxine transport by SLC19A2 and SLC19A3: Implications for absorption in acidic microclimates. J Biol Chem. 2020 Dec 11;295(50):16998-17008. PMID:33008889 doi:10.1074/jbc.RA120.013610
3. ↑ Yamashiro T, Yasujima T, Yuasa H. Animal species differences in the pyridoxine transport function of SLC19A3: Absence of Slc19a3-mediated pyridoxine uptake in the rat small intestine. Drug Metab Pharmacokinet. 2022 Jun;44:100456. PMID:35512554 doi:10.1016/j.dmpk.2022.100456
4. ↑ Miyake K, Yasujima T, Takahashi S, Yamashiro T, Yuasa H. Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3. J Biol Chem. 2022 Aug;298(8):102161. PMID:35724964 doi:10.1016/j.jbc.2022.102161
5. ↑ Akino S, Yasujima T, Yamashiro T, Yuasa H. Disrupted in renal carcinoma 2 (DIRC2/SLC49A4) is an H(+)-driven lysosomal pyridoxine exporter. Life Sci Alliance. 2022 Dec 1;6(2):e202201629. PMID:36456177 doi:10.26508/lsa.202201629