Y+L amino acid transporter 1

SLC7A7
Identifiers
Aliases	SLC7A7 , LAT3, LPI, MOP-2, Y+LAT1, y+LAT-1, solute carrier family 7 member 7
External IDs	OMIM: 603593 MGI: 1337120 HomoloGene: 88701 GeneCards: SLC7A7
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q11.2 Start 22,773,222 bp [1] End 22,829,820 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14|14 C2 Start 54,606,899 bp [2] End 54,655,237 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte monocyte jejunal mucosa kidney tubule blood spleen duodenum glomerulus metanephric glomerulus kidney Top expressed in ileum kidney yolk sac jejunum duodenum intestinal villus primitive streak proximal tubule spermatid spleen More reference expression data BioGPS More reference expression data
Gene ontology Molecular function L-amino acid transmembrane transporter activity basic amino acid transmembrane transporter activity antiporter activity transmembrane transporter activity Cellular component integral component of membrane membrane plasma membrane integral component of plasma membrane basolateral plasma membrane Biological process basic amino acid transmembrane transport cellular amino acid metabolic process regulation of arginine metabolic process amino acid transport leukocyte migration L-alpha-amino acid transmembrane transport transmembrane transport protein-containing complex assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9056 20540 Ensembl ENSG00000155465 ENSMUSG00000000958 UniProt Q9UM01 Q9Z1K8 RefSeq (mRNA) NM_001126105 NM_001126106 NM_003982 NM_001253679 NM_001253680 NM_011405 NM_001379497 NM_001379498 NM_001379499 RefSeq (protein) NP_001119577 NP_001119578 NP_003973 NP_001240608 NP_001240609 NP_035535 NP_001366426 NP_001366427 NP_001366428 Location (UCSC) Chr 14: 22.77 – 22.83 Mb Chr 14: 54.61 – 54.66 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene. ^{[5] [6]}

Interactions

SLC7A7 has been shown to interact with SLC3A2. ^[7]

See also

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

References

1. GRCh38: Ensembl release 89: ENSG00000155465 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000958 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Torrents D; Estevez R; Pineda M; Fernandez E; Lloberas J; Shi YB; Zorzano A; Palacin M (January 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 . hdl: 2445/176951 . PMID   9829974.
6. "Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7".
7. Pfeiffer, R; Rossier G; Spindler B; Meier C; Kühn L; Verrey F (January 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. PMC   1171101 . PMID   9878049.

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. doi:10.1086/515457. PMC   1716131 . PMID   9199570.
• 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. PMC   1171101 . 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. S2CID   38960307.
• 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. doi:10.1086/302700. PMC   1288352 . 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. doi: 10.1093/hmg/9.3.431 . 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. S2CID   29088822.
• 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. S2CID   23833183.
• 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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . 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. doi:10.1016/S0006-291X(03)00054-8. 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. PMC   528928 . 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. doi:10.1007/BF03195224. PMID   17666782. S2CID   24454281.

External links

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