UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC7A6
HGNC Symbol:SLC7A6
HGNC Description:solute carrier family 7 (amino acid transporter light chain, y+L system), member 6
HGNC ID:11064
Superfamily:SLC
Chromosome:Chr.16(+): 68298419-68335726 GRCh37
Location:16q22.1
OMIM:605641
OMIM Phenotype:None
Accessions:NM_003983
Nucleotide RefSeq:NM_001076785
Protein RefSeq:NP_001070253
Entrez:9057
Ensembl:ENSG00000103064
Isoforms:5
Evidence:Substrate In Vitro Evidence: When coinjected with 4F2hc cRNA in X. laevis oocytes, y+LAT1 cRNA induced the sodium-dependent uptake of L-leucine and the sodium-independent uptake of L-arginine (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, 1998). Substrate In Vivo Evidence: Because the substrate selectivity and transport mechanism of SLC7A7 implies that it is important for reabsorption of cationic amino acids at the basolateral membrane, it has been hypothesized that this gene may be defective in lysinuric protein intolerance (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, 1998; Pfeiffer R, Rossier G, Spindler B, Meier C, Kuhn L, Verrey F. 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). However, only contrary evidence is available for SLC7A6 (Dall'Asta V, Bussolati O, Sala R, Rotoli BM, Sebastio G, Sperandeo MP, Andria G, Gazzola GC. Arginine transport through system y(+)L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. Am J Physiol Cell Physiol 279(6): C1829-37, 2000). Tissue Distribution Evidence: By Northern blot analysis, y+LAT1 was shown to be expressed predominantly in kidney, with moderate expression in peripheral blood leukocytes, lung, placenta, spleen, and small intestine (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, 1998).
Tissues:Kidney (high); peripheral blood leukocytes, lung, placenta, spleen, small intestine (low)
Type:protein-coding
Sets:V
PharmGKB ID:PA35924
HPRD ID:12031
Substrates:L-leucine, L-arginine
Trivial Names:LAT3, LAT-2, y+LAT-2
Transcripts:NM_001076785.2 [Chr.16(+): 68298419-68335726 GRCh37]
NM_003983.5 [Chr.16(+): 68298419-68335726 GRCh37]
XM_005256230.1 [Chr.16(+): 68298419-68321640 GRCh37]
XM_005256229.1 [Chr.16(+): 68298435-68333912 GRCh37]
XM_005256228.1 [Chr.16(+): 68298482-68333912 GRCh37]
ENST00000219343 [Chr.16(+): 68298433-68335722 GRCh37]
ENST00000379152 [Chr.16(+): 68298451-68335722 GRCh37]
ENST00000562727 [Chr.16(+): 68299419-68308701 GRCh37]
ENST00000562863 [Chr.16(+): 68325189-68328650 GRCh37]
ENST00000563080 [Chr.16(+): 68300494-68325561 GRCh37]
ENST00000563146 [Chr.16(+): 68300505-68308904 GRCh37]
ENST00000563208 [Chr.16(+): 68324865-68328704 GRCh37]
ENST00000564708 [Chr.16(+): 68298485-68308851 GRCh37]
ENST00000566454 [Chr.16(+): 68298463-68335722 GRCh37]
ENST00000566579 [Chr.16(+): 68308772-68325481 GRCh37]
ENST00000566834 [Chr.16(+): 68298453-68321246 GRCh37]
ENST00000567325 [Chr.16(+): 68328581-68331336 GRCh37]
ENST00000567346 [Chr.16(+): 68321663-68328810 GRCh37]
ENST00000568024 [Chr.16(+): 68306882-68308998 GRCh37]
ENST00000568088 [Chr.16(+): 68298472-68308714 GRCh37]
Annotation History:View Events (38)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC7A6.

Variant Data

View all PMT variants for SLC7A6 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.