|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
GAT1
solute carrier family 6 member 1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:tiagabine
epilepsy
neurodevelopmental disorders
SLC6A1-related disorder
myoclonic-atonic epilepsy
|
|
gptkbp:biologicalProcess
|
neurotransmitter transport
neurotransmitter:sodium symporter activity
GABAergic synaptic transmission
|
|
gptkbp:discoveredBy
|
Blakely et al.
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
GABA transporter 1
|
|
gptkbp:Entrez_Gene_ID
|
6529
ENSG00000141499
|
|
gptkbp:expressedIn
|
brain
high in cerebellum
high in cerebral cortex
high in hippocampus
|
|
gptkbp:function
|
GABA reuptake transporter
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOID
|
gptkb:GO:0007268
gptkb:GO:0005326
|
|
gptkbp:HGNC_ID
|
11049
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SLC6A1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
599 amino acids
~47 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_3
3p25.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autism_spectrum_disorder
intellectual disability
developmental delay
|
|
gptkbp:OMIM
|
137165
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Slc6a1
|
|
gptkbp:pathway
|
gptkb:GABAergic_synapse
neurotransmitter release cycle
|
|
gptkbp:product
|
integral membrane protein
|
|
gptkbp:proteinFamily
|
gptkb:solute_carrier_family_6
SLC6 neurotransmitter transporter domain
|
|
gptkbp:publicTransit
|
GABA transporter
|
|
gptkbp:regulates
|
phosphorylation
protein-protein interactions
|
|
gptkbp:subcellularLocation
|
gptkb:plasma_membrane
|
|
gptkbp:transmembraneDomains
|
12
|
|
gptkbp:UniProtID
|
P30531
|
|
gptkbp:bfsParent
|
gptkb:chromosome_3
gptkb:solute_carrier_family
|
|
gptkbp:bfsLayer
|
6
|