UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SMIT
HGNC Symbol:SLC5A3
HGNC Description:solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
HGNC ID:11038
Superfamily:SLC
Chromosome:Chr.21(+): 35445503-35515334 GRCh37
Location:21q22.12
OMIM:600444
OMIM Phenotype:None
Accessions:L38500
Nucleotide RefSeq:NM_006933
Protein RefSeq:NP_008864
Entrez:6526
Ensembl:ENSG00000198743
Isoforms:4
Evidence:Substrate In Vitro Evidence: myo-inositol 15 X oocytes scylloinositol 15 X oocytes L-fucose 15 X oocytes L-xylose 15 X oocytes L-glucose 15 X oocytes D-glucose 15 X oocytes alpha-methyl-D-glucopyranoside 15 X oocytes D-galactose 15 X oocytes D-fucose 15 X oocytes 3-O-methyl-D-glucose 15 X oocytes 2-deoxy-D-glucose 15 X oocytes D-xylose 15 X oocytes Tissue Distribution Evidence: kidney, brain, placenta, pancreas, heart, skeletal muscle, and lung 2 Northern
Tissues:kidney, brain, placenta, pancreas, heart, skeletal muscle, and lung
Type:protein-coding
Sets:0
PharmGKB ID:PA35903
HPRD ID:02708
Substrates:myo-inositol, scylloinositol, L-fucose, L-xylose, L-glucose, D-glucose, alpha-methyl-D-glucopyranoside, D-galactose, D-fucose, 3-O-methyl-D-glucose, 2-deoxy-D-glucose, D-xylose
Trivial Names:SMIT, SMIT1, SMIT2
Transcripts:NM_006933.4 [Chr.21(+): 35445870-35478561 GRCh37]
XM_005261034.1 [Chr.21(+): 35445503-35515334 GRCh37]
XM_005261033.1 [Chr.21(+): 35445876-35515334 GRCh37]
XM_005261035.1 [Chr.21(+): 35445876-35478559 GRCh37]
ENST00000608209 [Chr.21(+): 35445870-35478561 GRCh37]
Annotation History:View Events (27)

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 SLC5A3.

Variant Data

View all PMT variants for SLC5A3 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.