UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:None
HGNC Symbol:SLC43A1
HGNC Description:solute carrier family 43 (amino acid system L transporter), member 1
HGNC ID:9225
Superfamily:SLC
Chromosome:Chr.11(-): 57252004-57283192 GRCh37
Location:11q12.1
OMIM:603733
OMIM Phenotype:None
Accessions:None
Nucleotide RefSeq:NM_003627
Protein RefSeq:NP_003618
Entrez:8501
Ensembl:ENSG00000149150
Isoforms:4
Evidence:None
Tissues:None
Type:protein-coding
Sets:None
PharmGKB ID:
HPRD ID:07227
Substrates:None
Trivial Names:LAT3, PB39, POV1, R00504
Transcripts:NM_003627.5 [Chr.11(-): 57252004-57283192 GRCh37]
NM_001198810.1 [Chr.11(-): 57252004-57282358 GRCh37]
XM_005274358.1 [Chr.11(-): 57252004-57282777 GRCh37]
XM_005274357.1 [Chr.11(-): 57252004-57281662 GRCh37]
ENST00000278426 [Chr.11(-): 57252007-57283259 GRCh37]
ENST00000524995 [Chr.11(-): 57265226-57283253 GRCh37]
ENST00000525764 [Chr.11(-): 57254653-57268792 GRCh37]
ENST00000528450 [Chr.11(-): 57252009-57282358 GRCh37]
ENST00000529452 [Chr.11(-): 57258726-57261993 GRCh37]
ENST00000530159 [Chr.11(-): 57259276-57282324 GRCh37]
ENST00000533066 [Chr.11(-): 57261466-57282088 GRCh37]
ENST00000533263 [Chr.11(-): 57268625-57283159 GRCh37]
ENST00000533515 [Chr.11(-): 57258776-57267150 GRCh37]
ENST00000534105 [Chr.11(-): 57265315-57282306 GRCh37]
ENST00000534298 [Chr.11(-): 57254585-57281599 GRCh37]
Annotation History:View Events (19)

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 SLC43A1.

Variant Data

View all PMT variants for SLC43A1 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: TOPO2 image is not available.