|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Dravet_syndrome
gptkb:childhood_absence_epilepsy
gptkb:early_infantile_epileptic_encephalopathy
gptkb:juvenile_myoclonic_epilepsy
epilepsy
|
|
gptkbp:component
|
gptkb:GABA-A_receptor_complex
|
|
gptkbp:discoveredIn
|
1989
|
|
gptkbp:encodes
|
gptkb:GABA-A_receptor_alpha1_subunit
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000166206
2554
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:function
|
mediates inhibitory neurotransmission
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
4059
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
5q34
|
|
gptkbp:mutationAssociatedWith
|
can cause epilepsy
|
|
gptkbp:OMIM
|
137160
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse
gptkb:right
|
|
gptkbp:pathway
|
gptkb:GABAergic_synapse
gptkb:Neuroactive_ligand-receptor_interaction
|
|
gptkbp:product
|
gptkb:GABRA1_protein
|
|
gptkbp:recipient
|
gptkb:voltage-gated_potassium_channel
|
|
gptkbp:UniProtID
|
P14867
|
|
gptkbp:bfsParent
|
gptkb:GABA_A_receptor
|
|
gptkbp:bfsLayer
|
6
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GABRA1 gene
|