| Common Name: | GLUT |
| HGNC Symbol: | SLC2A1 |
| HGNC Description: | solute carrier family 2 (facilitated glucose transporter), member 1 |
| HGNC ID: | 11005 |
| Chromosome: | Chr.1(-): 43164102-43197088 |
| Location: | 1p35-p31.3 |
| OMIM: | 138140 |
| OMIM Phenotype: | Glucose transport defect, blood-brain barrier |
| Accessions: | K03195 |
| Nucleotide RefSeq: | NM_006516 |
| Protein RefSeq: | NP_006507 |
| Entrez: | 6513 |
| Isoforms: | 1 |
| 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: | GLUT, DYT17, GLUT1, MGC141895, MGC141896 |
| Transcripts: | NM_006516 [Chr.1(-): 43163633-43197434] |
View on UCSC Genome Browser or Ensembl Genome Browser
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.