UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ASCT2
HGNC Symbol:SLC1A5
HGNC Description:solute carrier family 1 (neutral amino acid transporter), member 5
HGNC ID:10943
Superfamily:SLC
Chromosome:Chr.19(-): 47263587-47292280 GRCh37
Location:19q13.3
OMIM:109190
OMIM Phenotype:None
Accessions:AF105423
Nucleotide RefSeq:NM_005628
Protein RefSeq:NP_005619
Entrez:6510
Ensembl:ENSG00000105281
Isoforms:4
Evidence:Substrate In Vitro Evidence: 1. L-Ala, L-Ser, L-Thr, L-Cys, L-Gln, L-Asn - Oocyte uptake, Utsunomiya-Tate N et al, JBC 1996: 14883-1490 Tissue Distribution Evidence: 1. Lung, skeletal muscle, large intestine, kidney, testis, adipose tissue, Kanai Y et al, European Journal of Physiology, 2003 (online) 2. Astrocytes, RT-PCR, Yamamoto T et al, FEBS, 2003: 69-73
Tissues:Lung, skeletal muscle, large intestine, kidney, testis, adipose tissue, astrocytes
Type:protein-coding
Sets:0
PharmGKB ID:PA35830
HPRD ID:00173
Substrates:L-Ala, L-Ser, L-Thr, L-Cys, L-Gln, L-Asn
Trivial Names:R16, AAAT, ATBO, M7V1, RDRC, ASCT2, M7VS1
Transcripts:NM_005628.2 [Chr.19(-): 47278140-47291842 GRCh37]
NM_001145144.1 [Chr.19(-): 47278140-47290545 GRCh37]
NM_001145145.1 [Chr.19(-): 47278140-47288134 GRCh37]
XM_005259167.1 [Chr.19(-): 47263587-47292280 GRCh37]
ENST00000412532 [Chr.19(-): 47278181-47290599 GRCh37]
ENST00000434726 [Chr.19(-): 47278142-47288081 GRCh37]
ENST00000542575 [Chr.19(-): 47278140-47291851 GRCh37]
ENST00000593713 [Chr.19(-): 47280468-47288043 GRCh37]
ENST00000594991 [Chr.19(-): 47278142-47288162 GRCh37]
ENST00000598022 [Chr.19(-): 47285693-47288060 GRCh37]
Annotation History:View Events (13)

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 SLC1A5.

Variant Data

View all PMT variants for SLC1A5 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.