|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
epilepsy
intellectual disability
neurodevelopmental disorder with hypotonia and seizures
|
|
gptkbp:component
|
heterotrimeric G-protein complex
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
G protein beta subunit 1
|
|
gptkbp:Entrez_Gene_ID
|
2782
ENSG00000136999
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
heart
liver
|
|
gptkbp:fullName
|
G protein subunit beta 1
|
|
gptkbp:function
|
signal transduction
GTPase activity
G protein-coupled receptor signaling pathway
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
signal transduction
|
|
gptkbp:HGNC_ID
|
4381
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GNB1
|
|
gptkbp:interactsWith
|
GNAO1
GNG13
GNG2
GNG3
GNG4
GNG5
GNG7
GNGT1
GNGT2
|
|
gptkbp:length
|
340
|
|
gptkbp:locatedOnChromosome
|
1p36.33
|
|
gptkbp:molecularWeight
|
37 kDa
|
|
gptkbp:mutationAssociatedWith
|
hypotonia
seizures
developmental delay
|
|
gptkbp:numberOfExons
|
12
|
|
gptkbp:OMIM
|
139380
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Gnb1
|
|
gptkbp:orthologInZebrafish
|
gnb1a
gnb1b
|
|
gptkbp:product
|
GNB1 protein
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
gptkb:plasma_membrane
|
|
gptkbp:UniProtID
|
P62873
|
|
gptkbp:bfsParent
|
gptkb:1p36_region
gptkb:Gβ_subunit
|
|
gptkbp:bfsLayer
|
7
|