|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
Disrupted in Schizophrenia 1 protein
KIAA0457
SCZD9
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:autism_spectrum_disorder
gptkb:major_depressive_disorder
bipolar disorder
schizophrenia
cognitive impairment
mood disorders
|
|
gptkbp:discoveredIn
|
2000
|
|
gptkbp:encodes
|
Disrupted in Schizophrenia 1 protein
|
|
gptkbp:Entrez_Gene_ID
|
27185
ENSG00000177432
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:firstDescribed
|
Scottish family with psychiatric illness
|
|
gptkbp:fullName
|
Disrupted in Schizophrenia 1
|
|
gptkbp:function
|
cell signaling
neuronal development
synaptic regulation
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:2886
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DISC1 gene
|
|
gptkbp:interactsWith
|
gptkb:GSK3B
gptkb:ATF4
PDE4B
PCM1
MAP1A
FEZ1
NDEL1
DIXDC1
NDE1
|
|
gptkbp:length
|
854 amino acids
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1q42.2
|
|
gptkbp:mutationAssociatedWith
|
nonsense
translocation
missense
frameshift
increased risk of psychiatric disorders
|
|
gptkbp:OMIM
|
605210
|
|
gptkbp:orthologInMouse
|
Disc1
|
|
gptkbp:pathway
|
gptkb:Wnt_signaling_pathway
gptkb:cAMP_signaling_pathway
synaptic transmission
neurodevelopmental pathways
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
Q9NRI5
|
|
gptkbp:bfsParent
|
gptkb:FOXP2_gene
|
|
gptkbp:bfsLayer
|
8
|