Y+L amino acid transporter 1 explained

Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene.^{[1] [2]}

Interactions

SLC7A7 has been shown to interact with SLC3A2.^[3]

See also

• Heterodimeric amino acid transporter
• Solute carrier family
• Lysinuric protein intolerance

Further reading

• Lauteala T, Sistonen P, Savontaus ML, etal . Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. . Am. J. Hum. Genet. . 60 . 6 . 1479–86 . 1997 . 9199570 . 10.1086/515457 . 1716131 .
• Pfeiffer R, Rossier G, Spindler B, etal . Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. . EMBO J. . 18 . 1 . 49–57 . 1999 . 9878049 . 10.1093/emboj/18.1.49 . 1171101 .
• Borsani G, Bassi MT, Sperandeo MP, etal . SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. . Nat. Genet. . 21 . 3 . 297–301 . 1999 . 10080183 . 10.1038/6815 . 38960307 .
• Sperandeo MP, Bassi MT, Riboni M, etal . Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. . Am. J. Hum. Genet. . 66 . 1 . 92–9 . 2000 . 10631139 . 10.1086/302700 . 1288352 .
• Mykkänen J, Torrents D, Pineda M, etal . Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). . Hum. Mol. Genet. . 9 . 3 . 431–8 . 2000 . 10655553 . 10.1093/hmg/9.3.431 . free .
• Noguchi A, Shoji Y, Koizumi A, etal . SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. . Hum. Mutat. . 15 . 4 . 367–72 . 2000 . 10737982 . 10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C . 29088822 . free .
• Shoji Y, Noguchi A, Shoji Y, etal . Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. . Hum. Mutat. . 20 . 5 . 375–81 . 2003 . 12402335 . 10.1002/humu.10140 . 23833183 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Mykkänen J, Toivonen M, Kleemola M, etal . Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1). . Biochem. Biophys. Res. Commun. . 301 . 4 . 855–61 . 2003 . 12589791 . 10.1016/S0006-291X(03)00054-8 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Sperandeo MP, Paladino S, Maiuri L, etal . A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. . Eur. J. Hum. Genet. . 13 . 5 . 628–34 . 2005 . 15756301 . 10.1038/sj.ejhg.5201376 . free .
• Sperandeo MP, Annunziata P, Ammendola V, etal . Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. . Hum. Mutat. . 25 . 4 . 410 . 2006 . 15776427 . 10.1002/humu.9323 . free .
• Puomila K . Simell O . Huoponen K . Mykkänen J . Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. . Mol. Genet. Metab. . 90 . 3 . 298–306 . 2007 . 17196863 . 10.1016/j.ymgme.2006.11.007 .
• Cimbalistiene L . Lehnert W . Huoponen K . Kucinskas V . First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. . J. Appl. Genet. . 48 . 3 . 277–80 . 2007 . 17666782 . 10.1007/BF03195224 . 24454281 .

External links

• GeneReviews/NCBI/NIH/UW entry on Lysinuric Protein Intolerance

Notes and References

1. Torrents D . Estevez R . Pineda M . Fernandez E . Lloberas J . Shi YB . Zorzano A . Palacin M . Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance . J Biol Chem . 273 . 49 . 32437–45 . Jan 1999 . 9829974 . 10.1074/jbc.273.49.32437 . free . 2445/176951 . free .
2. Web site: Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7.
3. Pfeiffer . R . Rossier G . Spindler B . Meier C . Kühn L . Verrey F . Jan 1999 . Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family . EMBO J. . 18 . 1 . 49–57 . ENGLAND. 0261-4189. 9878049 . 10.1093/emboj/18.1.49 . 1171101 .