UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:GLUT
HGNC Symbol:SLC2A1
HGNC Description:solute carrier family 2 (facilitated glucose transporter), member 1
HGNC ID:11005
Superfamily:SLC
Chromosome:Chr.1(-): 43391046-43424847 GRCh37
Location:1p34.2
OMIM:138140
OMIM Phenotype:Glucose transport defect, blood-brain barrier
Accessions:K03195
Nucleotide RefSeq:NM_006516
Protein RefSeq:NP_006507
Entrez:6513
Ensembl:ENSG00000117394
Isoforms:2
Evidence:Substrate In Vitro Evidence: 2-deoxy-D-glucose and D-glucose Sarkar, H. K.; Thorens, B.; Lodish, H. F.; Kaback, H. R. Expression of the human erythrocyte glucose transporter in Escherichia coli. Proc. Nat. Acad. Sci. 85: 5463-5467, 1988 Substrate In Vivo Evidence: Dehydroascorbic acid (oxidized form of vitamin C), D-glucose Agus, D. B.; Gambhir, S. S.; Pardridge, W. M.; Spielholz, C.; Baselga, J.; Vera, J. C.; Golde, D. W. Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters. J. Clin. Invest. 100: 2842-2848, 1997. GLUT1 deficiency may play a role in producing embryonic malformations resulting from the hyperglycemia of maternal diabetes. Heilig CW, Saunders T, Brosius FC 3rd, Moley K, Heilig K, Baggs R, Guo L, Conner D. Glucose transporter-1-deficient mice exhibit impaired development and deformities that are similar to diabetic embryopathy. Proc Natl Acad Sci U S A. 100(26):15613-8, 2003. Genetic variation associated with diabetes Li, S. R.; Baroni, M. G.; Oelbaum, R. S.; Stock, J.; Galton, D. J. : Association of genetic variant of the glucose transporter with non-insulin-dependent diabetes mellitus. Lancet II: 368-370, 1988 Lohmueller, K. E.; Pearce, C. L.; Pike, M.; Lander, E. S.; Hirschhorn, J. N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genet. 33: 177-182, 2003. Low CSF glucose and GLUT1 deficiency Klepper, J.; Leiendecker, B.; Bredahl, R.; Athanassopoulos, S.; Heinen, F.; Gertsen, E.; Florcken, A.; Metz, A.; Voit, T. Introduction of a ketogenic diet in young infants. J. Inherit. Metab. Dis. 25: 449-460, 2002 Tissue Distribution Evidence: Messenger RNA species homologous to HepG2 glucose transporter messenger RNA were detected in K562 leukemic cells, HT29 colon adenocarcinoma cells, and human kidney tissue. (RT-PCR) Mueckler, M.; Caruso, C.; Baldwin, S. A.; Panico, M.; Blench, I.; Morris, H. R.; Allard, W. J.; Lienhard, G. E.; Lodish, H. F. Sequence and structure of a human glucose transporter. Science 229: 941-945, 1985. GLUT1 is widely expressed; high concentrations in brain, erythrocytes, and endothelial cells. Shepherd, P. R.; Kahn, B. B. Glucose transporters and insulin action: implications for insulin resistance and diabetes mellitus. New Eng. J. Med. 341: 248-257, 1999.
Tissues:widely expressed; high concentrations in brain, erythrocytes, and endothelial cells
Type:protein-coding
Sets:0
PharmGKB ID:PA35875
HPRD ID:00683
Substrates:2-deoxy-D-glucose, D-glucose, Dehydroascorbic acid
Trivial Names:PED, DYT9, GLUT, DYT17, DYT18, EIG12, GLUT1, HTLVR, GLUT1DS
Transcripts:NM_006516.2 [Chr.1(-): 43391046-43424847 GRCh37]
XM_005271135.1 [Chr.1(-): 43391502-43424539 GRCh37]
ENST00000372500 [Chr.1(-): 43395990-43424530 GRCh37]
ENST00000415851 [Chr.1(-): 43395018-43424500 GRCh37]
ENST00000426263 [Chr.1(-): 43391052-43424501 GRCh37]
ENST00000439722 [Chr.1(-): 43394819-43396796 GRCh37]
ENST00000460369 [Chr.1(-): 43417361-43424530 GRCh37]
ENST00000475162 [Chr.1(-): 43392467-43396877 GRCh37]
Annotation History:View Events (10)

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 SLC2A1.

Variant Data

View all PMT variants for SLC2A1 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.