L-Type Amino Acid Transporter 1 (y+LAT1)

SLC7A7; LPI; Y+LAT1; MOP-2; Monocyte amino acid permease 2; Y+L Amino Acid Transporter 1; Solute Carrier Family 7 Member 7,Cationic Amino Acid Transporter,y+ System

SPN	S390
HGNC	11065
MGI	1337120
PubMed	10080183
RGD	619902
UniProt	Q9UM01
Wiki	SLC7A7

The SLC7A7 gene encodes the light subunit of a cationic amino acid transporter. Together with the heavy chain, 4F2hc (SLC3A2), the SLC7A7 protein forms a functional heterodimeric transporter on the basolateral cell membrane of epithelial cells that transfers lysine, arginine, and ornithine from the cell to the extracellular space The SLC7A7 gene encodes a deduced 511-residue protein with a molecular mass of 56 kD that contains 12 transmembrane domains. The protein sequence shows 81% homology to the opossum protein. Northern blot analysis identified a 2.4-kb mRNA transcript expressed in kidney, peripheral blood leukocytes, lung, placenta, spleen, and small intestine. SLC7A7 associated with SLC3A2 to form a functional 135-kD heterodimer linked by a disulfide bridge involving cysteine 109 of SLC3A2.

Reference

"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. 273:32437-32445(1998) [PubMed] [Europe PMC] [Abstract]

"Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family."
EMBO J. 18:49-57(1999) [PubMed] [Europe PMC] [Abstract]

"SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance."
Nat. Genet. 21:297-301(1999) [PubMed] [Europe PMC] [Abstract]

"SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families."
Hum. Mutat. 15:367-372(2000) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects."
Am. J. Physiol. 279:C1829-C1837(2000) [PubMed] [Europe PMC] [Abstract]

"Two-way arginine transport in human endothelial cells: TNF-alpha stimulation is restricted to system y(+)."
Am. J. Physiol. 282:C134-C143(2002) [PubMed] [Europe PMC] [Abstract]

"Nitric oxide synthesis requires activity of the cationic and neutral amino acid transport system y+L in human umbilical vein endothelium."
Exp. Physiol. 88:699-710(2003) [PubMed] [Europe PMC] [Abstract]

"INFgamma stimulates arginine transport through system y+L in human monocytes."
FEBS Lett. 571:177-181(2004) [PubMed] [Europe PMC] [Abstract]

"Activation of classical protein kinase C decreases transport via systems y+ and y+L."
Am. J. Physiol. 292:C2259-C2268(2007) [PubMed] [Europe PMC] [Abstract]

"Ornithine transport via cationic amino acid transporter-1 is involved in ornithine cytotoxicity in retinal pigment epithelial cells."
Invest. Ophthalmol. Vis. Sci. 48:464-471(2007) [PubMed] [Europe PMC] [Abstract]

"Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene."
Nat. Genet. 21:293-296(1999) [PubMed] [Europe PMC] [Abstract]

"Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance."
Am. J. Hum. Genet. 66:92-99(2000) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)."
Hum. Mol. Genet. 9:431-438(2000) [PubMed] [Europe PMC] [Abstract]

"Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance."
Hum. Mutat. 20:375-381(2002) [PubMed] [Europe PMC] [Abstract]

"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. 13:628-634(2005) [PubMed] [Europe PMC] [Abstract]

"Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene."
Hum. Mutat. 25:410-410(2005) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene."
Hum. Mutat. 29:14-21(2008) [PubMed] [Europe PMC] [Abstract]