Recombinant Human Amino acid transporter heavy chain SLC3A1 (SLC3A1 NBAT)

1. Study shows that various computational tools were able to distinguish cystinuria-causing mutations from benign polymorphisms. Four deleterious mutation (R362C, T216M, M467K/T) in the coding region of SLC3A1 were identified. The intron variant c.1136+2/3delT in SLC3A1 gene probably affected the splicing process. PMID: 30069816
2. Thirteen pediatric patients with cystine stones were evaluated in our clinic between 2012 and 2015. Gene mutations in SLC3A1 and SLC7A9 were investigated PMID: 28689648
3. Spectrum of SLC3A1 and SLC7A9 mutations in cystinuria patients presenting with prenatal hyperechoic colon has been described. PMID: 28646536
4. Analysis showing how different mutations in SLC3A1 and SLC7A9 affect severity of cystinuria. PMID: 28812535
5. In a Saudi Arabian cohort of patients with cystinuria, two new variants in the SLC3A1 and SLC9A7 genes were discovered. All of the detected mutations were missense variants in three different exons, such as c.1711 T > A (p.Cys571Ser) (exon 10), c.1166C > T p.Thr389Met (exon 11) and c.1400 T > A p.Met467Lys (exon 8). PMID: 28166740
6. Here, the authors report that the expression level of the solute carrier family 3, member 1 (SLC3A1), the cysteine carrier, tightly correlated with clinical stages and patients' survival. Elevated SLC3A1 expression accelerated the cysteine uptake and the accumulation of reductive glutathione (GSH), leading to reduced reactive oxygen species (ROS). PMID: 28382174
7. We found a novel mutation in the acceptor region in exon 1 (SLC3A1 gene) and detected a heterozygosity status for the described patients. PMID: 26837681
8. Five SLC3A1 and SLC7A9 mutations appear to be responsible for the genetic basis of cystinuria in the Greek-Cypriot patients PMID: 26540609
9. Deletion of the rBAT C-terminal disulfide loop (residues 673-685) prevented maturation and prompted degradation of the transporter. PMID: 26537754
10. M467T, T216M mutations not found in Iranian cystinuria patients PMID: 26123750
11. Report no association of SLC3A1 mutations with clinical course of disease in cystinuria patients. PMID: 25964309
12. We present a new pathogenic homozygous mutation, c.833T>C in exon 4 of SLC3A1 gene, in a girl with cystinuria, whose single symptom was an increasingly hyper-echogenic colon in the prenatal sonography as of 30 weeks of gestation. PMID: 24824759
13. RBAT gene products, as the primary cause of cystinuria, may function as activators of the amino acid transport system in renal brush border membrane. PMID: 24449952
14. We present six family members with a complex phenotypic profile of cystinuria based on mutations in SLC3A1 (type A) or SLC7A9 (type B). PMID: 24045899
15. Deletion of SLC3A1 is associated with Hypotonia-cystinuria syndrome. PMID: 23794250
16. Two novel deletions encompassing the SLC3A1 and PREPL genes have been identified in unrelated hypotonia-cystinuria syndrome patients. PMID: 22796000
17. In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants are found in cystinuria patients. PMID: 21255007
18. Studies identified 6 different alleles in SLC3A1 and 2 in SLC7A9 accounting for a total of 25 copy number changes, 11 in SLC3A1 and 14 in SLC7A9. PMID: 19782624
19. The most frequent mutation in this study was the previously reported M467T and it was also detected in the normal population with an allelic frequency of 0.5%, which implies that other genes may be involved in cystinuria. PMID: 11748844
20. in kidney cells, intracellular association of rBAT and b(0,+)AT is required for the surface expression of either subunit, which together form a functional heterocomplex at the apical cell membrane. PMID: 12060600
21. a decreasing expression gradient of heterodimeric rBAT-b(0,+)AT along the proximal tubule is responsible for virtually all apical cystine reabsorption PMID: 12167606
22. in cystinuria, the detection rate for mutations in SLC3A1 in children was 54% in the SLC3A1 gene for type I chromosomes PMID: 12234283
23. To offer molecular genetic diagnosis for cystinuria, a search for mutations of the SLC3A1 gene is being expanded to be able to initiate early therapy. PMID: 12372889
24. a large duplication in SLC3A1 spanning from intron 4 to intron 9 accompanied by a small inversion of 25 bp and a 2 bp deletion in intron 9 in cystinuria PMID: 14531788
25. First direct evidence is given that mutations in rBAT may modify transport properties of amino acid antiporter system b0+. PMID: 14561219
26. Mutations of this protein have a population-specific distribution among south-east Europeans living in Germany. PMID: 14991253
27. Mutational analysis should focus on this gene in inheritance of cytinuria. PMID: 15635077
28. gene deletion, codon 222 in cystinuria PMID: 15818800
29. gene deletion in cysteinuria, codon 656 PMID: 15818801
30. gene deletion, codon 567 in cystinuria PMID: 15818802
31. SLC3A1 and SLC7A9 mutations may have roles in cystinuria PMID: 16138908
32. rBAT1 and Cav-1 share a cellular expression in the segregated caveolae structure. As caveolae are rich in signaling molecules, BAT1 could play a role in diverse pathophysiological processes. PMID: 16358225
33. The data show that patient with cysteinria adn nephrolithiasis has an increased cystine (923.08 microg/mL) level and was heterozygote for M467T mutation. PMID: 17010017
34. a deletion of SLC3A1 causes atypical hypotonia-cystinuria syndrome PMID: 18234729
35. Data suggest a two-step biogenesis model, with the early assembly of the subunits followed by folding of the rBAT extracellular domain. Defects on either of these steps lead to the type I cystinuria phenotype. PMID: 18332091
36. Twenty-four novel mutations in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes are reported. PMID: 18752446
37. SLC3A1 and SLC7A9 mutations identified in 52 Greek cystinuria patients; in total 14 mutations were identified in SLC3A1 and 12 in SLC7A9. PMID: 18778962

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HGNC: 11025

OMIM: 104614

KEGG: hsa:6519

STRING: 9606.ENSP00000260649

UniGene: Hs.112916