UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:ATA1
HGNC Symbol:SLC38A1
HGNC Description:solute carrier family 38, member 1
HGNC ID:13447
Superfamily:SLC
Chromosome:Chr.12(-): 46576838-46663208 GRCh37
Location:12q13.11
OMIM:608490
OMIM Phenotype:None
Accessions:AF247166
Nucleotide RefSeq:NM_001077484
Protein RefSeq:NP_001070952
Entrez:81539
Ensembl:ENSG00000111371
Isoforms:6
Evidence:Substrate In Vitro Evidence: Small, short chain amino acids (glutamine, alanine, asparagine, cysteine, histidine, serine). Also the system A model substrate alpha-(methylamino)isobutyric acid in transfected cells Mackenzie and Erickson 2003, Pflugers Arch Wang et al 2000, Biochem Biophys Res Comm, Vol 273 (3), p.1175-79 SNAT1 transports all zwitterionic, aliphatic amino acids to varying degrees and displays a preference for glutamine, alanine, asparagine, cysteine, histidine, and serine Mackenzie and Erickson 2003, Pflugers Arch Tissue Distribution Evidence: Placenta, heart, brain by Northern Blot Wang et al 2000, Biochem Biophys Res Comm, Vol 273 (3), p.1175-79 Weaker expression in skeletal muscle, spleen , and intestine by Northern and Western Blots Mackenzie and Erickson 2003, Pflugers Arch
Tissues:placenta, heart, brain, retina, adrenal gland, lung, skeletal muscle, spleen, stomach, testis
Type:protein-coding
Sets:0
PharmGKB ID:PA37772
HPRD ID:12245
Substrates:alpha-(methylamino)isobutyric acid, glutamine, alanine, asparagine, cysteine, histidine, serine
Trivial Names:ATA1, NAT2, SAT1, SNAT1
Transcripts:NM_001077484.1 [Chr.12(-): 46576838-46663208 GRCh37]
NM_030674.3 [Chr.12(-): 46576838-46663208 GRCh37]
NM_001278388.1 [Chr.12(-): 46576838-46663208 GRCh37]
NM_001278387.1 [Chr.12(-): 46576838-46663208 GRCh37]
NM_001278389.1 [Chr.12(-): 46576838-46660278 GRCh37]
NM_001278390.1 [Chr.12(-): 46589508-46661770 GRCh37]
ENST00000398637 [Chr.12(-): 46576846-46662795 GRCh37]
ENST00000439706 [Chr.12(-): 46581584-46662780 GRCh37]
ENST00000546519 [Chr.12(-): 46662643-46663800 GRCh37]
ENST00000546893 [Chr.12(-): 46582348-46662902 GRCh37]
ENST00000548979 [Chr.12(-): 46591161-46591804 GRCh37]
ENST00000549049 [Chr.12(-): 46581584-46662778 GRCh37]
ENST00000549633 [Chr.12(-): 46592511-46662826 GRCh37]
ENST00000550173 [Chr.12(-): 46623015-46663734 GRCh37]
ENST00000551506 [Chr.12(-): 46601366-46662589 GRCh37]
ENST00000552197 [Chr.12(-): 46589508-46661484 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 SLC38A1.

Variant Data

View all PMT variants for SLC38A1 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.