|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:GLUT1
gptkb:solute_carrier_family_2_member_1
|
|
gptkbp:associatedWith
|
gptkb:GLUT1_deficiency_syndrome
gptkb:GLUT1_deficiency_syndrome_type_1
gptkb:GLUT1_deficiency_syndrome_type_2
gptkb:GLUT1_deficiency_syndrome_type_3
epilepsy
movement disorders
developmental delay
|
|
gptkbp:clinicalTrialPhase
|
SLC2A1 sequencing
|
|
gptkbp:discoveredIn
|
1985
|
|
gptkbp:encodes
|
gptkb:GLUT1_protein
|
|
gptkbp:Entrez_Gene_ID
|
6513
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
gptkb:kidney
gptkb:placenta
gptkb:blood-brain_barrier
liver
adipose tissue
endothelial cells
astrocytes
erythrocytes
|
|
gptkbp:firstDescribed
|
1985
Mueckler et al.
|
|
gptkbp:foundIn
|
gptkb:Mus_musculus
gptkb:Homo_sapiens
gptkb:Rattus_norvegicus
|
|
gptkbp:function
|
facilitated glucose transport
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
11005
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SLC2A1 gene
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:length
|
35 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p34.2
chromosome 1
|
|
gptkbp:mutationAssociatedWith
|
impaired glucose transport into brain
|
|
gptkbp:numberOfExons
|
10
|
|
gptkbp:OMIM
|
138140
|
|
gptkbp:orthologInMouse
|
gptkb:Slc2a1
|
|
gptkbp:proteinFamily
|
gptkb:major_facilitator_superfamily
gptkb:glucose_transporter_family
|
|
gptkbp:publicTransit
|
uniporter
|
|
gptkbp:transportation
|
gptkb:dehydroascorbic_acid
glucose
|
|
gptkbp:UniProtID
|
P11166
|
|
gptkbp:bfsParent
|
gptkb:GLUT1_transporter
gptkb:glucose_transporter_1_(GLUT1)
|
|
gptkbp:bfsLayer
|
7
|