GRIN1

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith N-methyl-D-aspartate receptor
neurodevelopmental disorder with or without hyperkinetic movements and seizures
gptkbp:encodes Glutamate receptor ionotropic, NMDA 1
gptkbp:Entrez_Gene_ID 2902
gptkbp:expressedIn brain
gptkbp:hasTranscriptVariant multiple
https://www.w3.org/2000/01/rdf-schema#label GRIN1
gptkbp:involvedIn memory
learning
synaptic transmission
gptkbp:locatedOnChromosome 9q34.3
gptkbp:mutationAssociatedWith epilepsy
intellectual disability
gptkbp:OMIM 138249
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Grin1
gptkbp:product NMDA receptor subunit NR1
gptkbp:UniProtID Q05586
gptkbp:bfsParent gptkb:NMDA_receptor
gptkb:NMDA_receptors
gptkbp:bfsLayer 7