Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:GLUT1
gptkb:Dystonia_9 erythrocyte/brain glucose transporter |
| gptkbp:associatedWith |
gptkb:GLUT1_deficiency_syndrome
epilepsy hereditary stomatocytosis |
| gptkbp:discoveredBy |
Mueckler et al.
|
| gptkbp:discoveredIn |
1985
|
| gptkbp:encodes |
gptkb:GLUT1
|
| gptkbp:Entrez_Gene_ID |
6513
|
| gptkbp:expressedIn |
gptkb:blood-brain_barrier
brain erythrocytes |
| gptkbp:function |
amino acid transporter
|
| gptkbp:HGNC_ID |
11005
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC2A1
|
| gptkbp:locatedOnChromosome |
gptkb:1p34.2
1 |
| gptkbp:mutationAssociatedWith |
gptkb:GLUT1_deficiency_syndrome
|
| gptkbp:OMIM |
138140
|
| gptkbp:orthologInMouse |
gptkb:Slc2a1
|
| gptkbp:product |
gptkb:solute_carrier_family_2_member_1
|
| gptkbp:proteinFamily |
gptkb:solute_carrier_family
|
| gptkbp:publicTransit |
facilitative glucose transporter
|
| gptkbp:transportation |
gptkb:dehydroascorbic_acid
glucose |
| gptkbp:UniProtID |
P11166
|
| gptkbp:bfsParent |
gptkb:solute_carrier_family
|
| gptkbp:bfsLayer |
6
|