SLC7A7

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Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
Identifiers
Symbol(s) SLC7A7; LAT3; LPI; Y+LAT1; y+LAT-1
External IDs OMIM: 603593 MGI: 1337120 HomoloGene: 88701
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 9056 20540
Ensembl ENSG00000155465 ENSMUSG00000000958
Uniprot Q9UM01 n/a
Refseq NM_003982 (mRNA)
NP_003973 (protein)		 NM_011405 (mRNA)
NP_035535 (protein)
Location Chr 14: 22.31 - 22.36 Mb Chr 14: 53.32 - 53.36 Mb
Pubmed search [1] [2]

Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7, also known as SLC7A7, is a human gene.[1]


[edit] See also

[edit] References

  1. ^ Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7.

[edit] Further reading

  • Lauteala T, Sistonen P, Savontaus ML, et al. (1997). "Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.". Am. J. Hum. Genet. 60 (6): 1479–86. PMID 9199570. 
  • Torrents D, Estévez R, Pineda M, et al. (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. PMID 9829974. 
  • Pfeiffer R, Rossier G, Spindler B, et al. (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. doi:10.1093/emboj/18.1.49. PMID 9878049. 
  • Borsani G, Bassi MT, Sperandeo MP, et al. (1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.". Nat. Genet. 21 (3): 297–301. doi:10.1038/6815. PMID 10080183. 
  • Sperandeo MP, Bassi MT, Riboni M, et al. (2000). "Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.". Am. J. Hum. Genet. 66 (1): 92–9. PMID 10631139. 
  • Mykkänen J, Torrents D, Pineda M, et al. (2000). "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. PMID 10655553. 
  • Noguchi A, Shoji Y, Koizumi A, et al. (2000). "SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.". Hum. Mutat. 15 (4): 367–72. doi:10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C. PMID 10737982. 
  • Shoji Y, Noguchi A, Shoji Y, et al. (2003). "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. doi:10.1002/humu.10140. PMID 12402335. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Mykkänen J, Toivonen M, Kleemola M, et al. (2003). "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. PMID 12589791. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Sperandeo MP, Paladino S, Maiuri L, et al. (2005). "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. doi:10.1038/sj.ejhg.5201376. PMID 15756301. 
  • Sperandeo MP, Annunziata P, Ammendola V, et al. (2006). "Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.". Hum. Mutat. 25 (4): 410. 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. PMID 17666782. 
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v • d • e
Membrane proteins, carrier proteins: membrane transport proteins
ABC-transporter
A1, A2, A3, A4, A7, A8, A12, B1

B2-3, B2, B3, B4, B5, B6, B7, B9, B11

C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11

D1, D2, D3, D4, E1, F1, F2

G1, G2, G4, Sterolin (G5, G8)
Solute carrier
1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5, 2A1, 2A2, 2A3, 2A4, 2A5, 2A6, 2A8, 2A9, 2A10, 2A12, 3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7, 11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2, 22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A4, 30A7, 30A8, 31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7, 40A1, 43A1 44A1, 44A2, 44A4, 45A2, O1A2, O1B1, O1B3, O2B1, O431, O4A1
Monosaccharide
Other