SLC2A1 (GLUT1) Gene
Solute Carrier Family 2 Member 1 – Glucose Transporter 1
Gene Information Card
| Symbol | SLC2A1 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 6513 ncbi.nlm.nih.gov/gene/6513 |
| Ensembl ID | ENSG00000117394 |
| UniProt ID | P11166 |
| OMIM ID | 138140 |
| HGNC ID | 11005 |
| Aliases | GLUT1, DYT17, DYT18, DYT9, EIG12, GLUT-1, HTLVR, PED |
Description
SLC2A1 encodes the glucose transporter 1 (GLUT1) protein, a facilitative glucose transporter that mediates the constitutive uptake of glucose across the blood-brain barrier and into erythrocytes, brain cells, and other tissues. Mutations in SLC2A1 cause GLUT1 deficiency syndrome (De Vivo disease), characterized by infantile seizures, developmental delay, microcephaly, and movement disorders. The gene is also associated with hereditary spastic paraplegia 64 (SPG64) and certain forms of dystonia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| GLUT1 Deficiency Syndrome (De Vivo disease) | Loss-of-function mutations reduce glucose transport across the blood-brain barrier, leading to cerebral energy failure | OMIM #606777; ClinVar |
| Hereditary Spastic Paraplegia 64 (SPG64) | Dominant-negative or loss-of-function mutations impair glucose supply to spinal motor neurons | OMIM #614206; ClinVar |
| Dystonia 18 (DYT18) | Mutations in SLC2A1 cause paroxysmal exercise-induced dyskinesia with epilepsy | OMIM #612126; ClinVar |
| Epilepsy, Idiopathic Generalized 12 (EIG12) | SLC2A1 variants predispose to absence epilepsy and myoclonic seizures | OMIM #614847; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.8 | High |
| Erythrocytes | N/A | High (protein level) |
| Heart | 9.5 | Medium |
| Skeletal Muscle | 7.2 | Medium |
| Liver | 3.1 | Low |
| Kidney | 4.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| SH-SY5Y (neuroblastoma) | 11.5 | High expression |
| HepG2 (hepatocellular) | 6.8 | Medium expression |
| K562 (erythroleukemia) | 18.0 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.343C>T (p.Arg115Cys) | Missense | Rare | Loss of glucose transport activity; associated with GLUT1 deficiency |
| c.997C>T (p.Arg333Trp) | Missense | Rare | Dominant-negative effect; causes SPG64 |
| c.1199G>A (p.Arg400His) | Missense | Rare | Reduced GLUT1 expression; linked to epilepsy |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of function; severe GLUT1 deficiency |
Mutation functional classification
Loss of Function (LOF)
Most SLC2A1 missense and nonsense mutations reduce or abolish glucose transport activity, leading to GLUT1 deficiency syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SLC2A1.
Dominant Negative (DN)
Certain missense mutations (e.g., p.Arg333Trp) exert a dominant-negative effect by impairing GLUT1 oligomerization or trafficking, causing hereditary spastic paraplegia.
View complete mutation data：
Gene Ontology (GO)
| • Glucose transmembrane transporter activity (GO:0005355) | • Facilitative glucose transporter activity (GO:0022857) |
| • Plasma membrane (GO:0005886) | • Integral component of membrane (GO:0016021) |
| • Carbohydrate transport (GO:0008643) | • Cellular glucose homeostasis (GO:0001678) |
Pathways
• Glucose transport (Reactome: R-HSA-189200)
• Glycolysis (Reactome: R-HSA-70171)
• Insulin signaling pathway (KEGG: hsa04910)
• Central carbon metabolism in cancer (KEGG: hsa05230)
Protein Summary
GLUT1 (UniProt P11166) is a 492-amino acid integral membrane protein with 12 transmembrane helices. It functions as a uniporter that facilitates the passive diffusion of glucose across cell membranes. GLUT1 is the primary glucose transporter in erythrocytes and the blood-brain barrier. Its expression is upregulated in many cancers to support increased glycolytic metabolism (Warburg effect). Post-translational modifications include N-glycosylation at Asn45, which is essential for proper trafficking and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A1 Knockout HEK293 Cell Line | EDC08016 | Human | 6513 | Details Get a Quote |
| SLC2A10 Knockout HEK293 Cell Line | EDJ-KQ2062 | Human | 81031 | Details Get a Quote |
| SLC2A13 Knockout HEK293 Cell Line | EDC07996 | Human | 114134 | Details Get a Quote |
| SLC2A14 Knockout HEK293 Cell Line | EDJ-KQ9694 | Human | 144195 | Details Get a Quote |
| SLC2A12 Knockout HEK293 Cell Line | EDC08224 | Human | 154091 | Details Get a Quote |
| SLC2A1 Knockout HCT 116 Cell Line | EDJ-KQ21119 | Human | 6513 | Details Get a Quote |
| SLC2A1 Knockout HeLa Cell Line | EDJ-KQ21120 | Human | 6513 | Details Get a Quote |
| SLC2A1 Knockout A-549 Cell Line | EDJ-KQ45978 | Human | 6513 | Details Get a Quote |
| SLC2A13 Knockout A-549 Cell Line | EDJ-KQ25580 | Human | 114134 | Details Get a Quote |
| SLC2A13 Knockout HCT 116 Cell Line | EDJ-KQ25581 | Human | 114134 | Details Get a Quote |
| SLC2A13 Knockout HeLa Cell Line | EDJ-KQ25582 | Human | 114134 | Details Get a Quote |
| SLC2A12 Knockout HeLa Cell Line | EDJ-KQ39879 | Human | 154091 | Details Get a Quote |
| SLC2A11 Knockout HEK293 Cell Line | EDC08368 | Human | 66035 | Details Get a Quote |
| SLC2A11 Knockout HeLa Cell Line | EDJ-KQ57118 | Human | 66035 | Details Get a Quote |
| SLC2A10 Knockout HeLa Cell Line | EDJ-KQ57363 | Human | 81031 | Details Get a Quote |
Displaying Records 1 To 15 Of 25 Records
