UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ATRC3,CAT3
HGNC Symbol:SLC7A3
HGNC Description:solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
HGNC ID:11061
Superfamily:SLC
Chromosome:Chr.X(-): 70145429-70150975 GRCh37
Location:Xq13.1
OMIM:300443
OMIM Phenotype:None
Accessions:NM_032803
Nucleotide RefSeq:NM_001048164
Protein RefSeq:NP_001041629
Entrez:84889
Ensembl:ENSG00000165349
Isoforms:2
Evidence:Substrate In Vitro Evidence: Cationic amino acids in X. laevis oocytes Vekony et al 2001, Biochemistry, Vol 40 (41), p. 12387-94 Tissue Distribution Evidence: Thymus, testis, ovary, uterus, brain, mammary gland, stomach, leukemia cells by Dot Blot analysis Vekony et al 2001, Biochemistry, Vol 40 (41), p. 12387-94
Tissues:thymus, ovaries, testis, brain
Type:protein-coding
Sets:V
PharmGKB ID:PA35921
HPRD ID:02343
Substrates:cationic L-amino acids
Trivial Names:CAT3, ATRC3, CAT-3
Transcripts:NM_001048164.2 [Chr.X(-): 70145429-70150975 GRCh37]
NM_032803.5 [Chr.X(-): 70145429-70150975 GRCh37]
ENST00000298085 [Chr.X(-): 70145438-70150975 GRCh37]
ENST00000374299 [Chr.X(-): 70145432-70150946 GRCh37]

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 SLC7A3.

Variant Data

View all PMT variants for SLC7A3 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.