Biology:Y+L amino acid transporter 1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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
References
- ↑ Torrents D; Estevez R; Pineda M; Fernandez E; Lloberas J; Shi YB; Zorzano A; Palacin M (Jan 1999). "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. doi:10.1074/jbc.273.49.32437. PMID 9829974.
- ↑ "Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9056.
- ↑ 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. (ENGLAND) 18 (1): 49–57. doi:10.1093/emboj/18.1.49. ISSN 0261-4189. PMID 9878049.
Further reading
- "Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.". Am. J. Hum. Genet. 60 (6): 1479–86. 1997. doi:10.1086/515457. PMID 9199570.
- "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. doi:10.1093/emboj/18.1.49. PMID 9878049.
- "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.". Nat. Genet. 21 (3): 297–301. 1999. doi:10.1038/6815. PMID 10080183.
- "Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.". Am. J. Hum. Genet. 66 (1): 92–9. 2000. doi:10.1086/302700. PMID 10631139.
- "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. doi:10.1093/hmg/9.3.431. PMID 10655553.
- "SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.". Hum. Mutat. 15 (4): 367–72. 2000. doi:10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C. PMID 10737982.
- "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. doi:10.1002/humu.10140. PMID 12402335.
- "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "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. doi:10.1016/S0006-291X(03)00054-8. PMID 12589791.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "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. doi:10.1038/sj.ejhg.5201376. PMID 15756301.
- "Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.". Hum. Mutat. 25 (4): 410. 2006. doi:10.1002/humu.9323. PMID 15776427.
- Puomila K; Simell O; Huoponen K; Mykkänen J (2007). "Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.". Mol. Genet. Metab. 90 (3): 298–306. doi:10.1016/j.ymgme.2006.11.007. PMID 17196863.
- Cimbalistiene L; Lehnert W; Huoponen K; Kucinskas V (2007). "First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.". J. Appl. Genet. 48 (3): 277–80. doi:10.1007/BF03195224. PMID 17666782.
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