Recombinant Human Y+L amino acid transporter 1 (SLC7A7), partial

1. SLC7A7 overexpression decreased the apoptosis rate, increased the proportion of cells in the G1 phase, decreased the proportion of G2 cells, and significantly increased cell migration and invasion and increased intracellular arginine would activate mTOR, and induce apoptosis in SLC7A7 knockdown Jurkat cells. PMID: 30025393
2. Confirmed by mRNA and protein expression, the amino acid transporters SLC7A7 and SLC38A5 showed marked differences between controls and intrauterine growth restriction/pre-eclampsia and were regulated by both diseases. In contrast, ABCA1 may play an exclusive role in the development of pre-eclempsia. PMID: 29499643
3. At present, 51 kinds of SLC7A7 gene mutations causing lysinuric protein intolerance have been found worldwide, including insert (C.1384-1385 ins ACTA), delete (C.1185-1188 del TTCT) and point mutations (P.R410X, P.Y457X, P.R 468X, P.L124p, etc).3, 4 In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: C.1387 del C and IVS4+1C>T, which has never been reported worldwide. PMID: 29058386
4. The study reports a significant association between SLC7A7 rs12436190 and the risk of glioma in a Chinese population. PMID: 28510245
5. the 1471 delTTCT mutation was identified in exon 9 in the homozygous state for all Tunisian patients with lysinuric protein Intolerance; The 1471 deITTCT mutation seems to be a common mutation of Tunisian population PMID: 26882824
6. heteromerization of y+LAT1 and 4F2hc within the cell is not disrupted by any of the tested LPI mutations PMID: 23940088
7. SLC7A7 genetic variants are associated with increase risk for glioma in a Chinese population. PMID: 23975734
8. SLC7A7 plays a critical role in glioblastoma carcinogenesis and overexpression of SLC7A7 is correlated with worse outcomes in patients PMID: 23408368
9. SLC7A7/y+LAT1 mutations lead to a defective phenotype of macrophages resulting in lysinuric Protein Intolerance. PMID: 22325938
10. during differentiation of human monocytes from peripheral blood, SLC7A7 mRNA and system y(+)L activity are increased PMID: 21586674
11. novel SLC7A7 mutations in patients with lysinuric protein intolerance PMID: 12402335
12. expression levels and putative 5' promoter elements of the SLC7A7 gene PMID: 12589791
13. putative multiheteromeric structure of both [4F2hc/y(+)LAT-1] and [4F2hc/y(+)LAT-2], and the interference between y(+)LAT-1 and y(+)LAT-2 proteins may have a role in the pathogenesis of lysinuric protein intolerance PMID: 15756301
14. mutations of the SLC7A7 gene may have a role in lysinuric protein intolerance PMID: 15776427
15. identified a novel alternative, TATA-box-containing promoter that plays a role in the tissue-specific regulation of SLC7A7 gene expression PMID: 17196863
16. Mutation in the SLC7A7 gene is associated with lysinuric protein intolerance PMID: 17666782
17. A review of the current knowledge of SLC7A7 mutations and their role in LPI pathogenesis. PMID: 17764084
18. results suggest genomic rearrangement of SLC7A7 play more important role in lysinuric protein intolerance than has been reported; 3' region AluY repeat could be a recombination hot spot as it is involved in 38% of SLC7A7 rearranged chromosomes described PMID: 18716612

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HGNC: 11065

OMIM: 222700

KEGG: hsa:9056

STRING: 9606.ENSP00000285850

UniGene: Hs.513147