|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:SLC2A1
|
|
gptkbp:associatedWith
|
gptkb:GLUT1_deficiency_syndrome
epilepsy
developmental delay
|
|
gptkbp:discoveredIn
|
1985
|
|
gptkbp:encodes
|
gptkb:GLUT1_protein
|
|
gptkbp:Entrez_Gene_ID
|
6513
|
|
gptkbp:expressedIn
|
gptkb:cancer
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
gptkb:blood-brain_barrier
brain
heart
colon
erythrocytes
endothelium
|
|
gptkbp:firstDescribed
|
Mueckler et al.
|
|
gptkbp:function
|
facilitated glucose transport
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
11005
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GLUT1 gene
|
|
gptkbp:length
|
10 exons
492 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p34.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:GLUT1_deficiency_syndrome
nonsense
deletion
insertion
missense
|
|
gptkbp:OMIM
|
138140
|
|
gptkbp:orthologInMouse
|
gptkb:Slc2a1
|
|
gptkbp:orthologInZebrafish
|
slc2a1a
slc2a1b
|
|
gptkbp:product
|
gptkb:GLUT1
12 transmembrane domains
|
|
gptkbp:proteinFamily
|
gptkb:solute_carrier_family_2
|
|
gptkbp:regulates
|
gptkb:insulin
gptkb:hypoxia
glucose levels
|
|
gptkbp:relatedTo
|
gptkb:Warburg_effect
cancer metabolism
|
|
gptkbp:transportation
|
gptkb:dehydroascorbic_acid
glucose
|
|
gptkbp:UniProtID
|
P11166
|
|
gptkbp:bfsParent
|
gptkb:hypoxia_response_elements_(HREs)
|
|
gptkbp:bfsLayer
|
7
|