UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SATT
HGNC Symbol:SLC1A4
HGNC Description:solute carrier family 1 (glutamate/neutral amino acid transporter), member 4
HGNC ID:10942
Superfamily:SLC
Chromosome:Chr.2(+): 65215579-65250999 GRCh37
Location:2p15-p13
OMIM:600229
OMIM Phenotype:None
Accessions:BC026216
Nucleotide RefSeq:NM_003038
Protein RefSeq:NP_003029
Entrez:6509
Ensembl:ENSG00000115902
Isoforms:2
Evidence:Substrate In Vitro Evidence: 1. L-Ala, L-Ser, L-Cys, Zerangue N et al, JBC 1996: 27991-27994 2. Proline, hydroxyproline, Pinilla-Tenas - Oocyte uptake, J et al, Journal of Membrane Biology, 2003: 27-32 3. Threonine, Arriza J et al, JBC, 1993: 15329-15332 Tissue Distribution Evidence: 1. Highest in brain, skeletal muscle, pancreas, other tissues as well - Northern Blot, Arriza J et al, JBC, 1993: 15329-15332
Tissues:Brain, skeletal muscle, pancreas
Type:protein-coding
Sets:0
PharmGKB ID:PA35829
HPRD ID:02576
Substrates:L-Ala, L-Ser, L-Cys, Proline, hydroxyproline,Threonine
Trivial Names:SATT, ASCT1
Transcripts:NM_003038.4 [Chr.2(+): 65216495-65250999 GRCh37]
NM_001193493.1 [Chr.2(+): 65215579-65250999 GRCh37]
ENST00000234256 [Chr.2(+): 65216535-65250999 GRCh37]
ENST00000471551 [Chr.2(+): 65215624-65245261 GRCh37]
ENST00000480594 [Chr.2(+): 65226582-65250997 GRCh37]
ENST00000493121 [Chr.2(+): 65215611-65243688 GRCh37]
ENST00000531327 [Chr.2(+): 65215624-65248528 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 SLC1A4.

Variant Data

View all PMT variants for SLC1A4 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.