|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:Son_of_sevenless_1
gptkb:SOS-1
|
|
gptkbp:associatedWith
|
gptkb:SOS2_gene
gptkb:hereditary_gingival_fibromatosis
gptkb:Noonan_syndrome
|
|
gptkbp:biologicalProcess
|
activates RAS by facilitating GDP-GTP exchange
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
gptkb:SOS1_protein
|
|
gptkbp:Entrez_Gene_ID
|
6654
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:Son_of_sevenless_homolog_1
|
|
gptkbp:function
|
guanine nucleotide exchange factor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
11187
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOS1 gene
|
|
gptkbp:interactsWith
|
gptkb:EGFR
gptkb:SHC1
gptkb:GRB2
|
|
gptkbp:involvedIn
|
gptkb:RAS/MAPK_signaling_pathway
|
|
gptkbp:length
|
23 exons
|
|
gptkbp:locatedOnChromosome
|
2p22-p16
plus
|
|
gptkbp:mutationAssociatedWith
|
gain-of-function mutations cause Noonan syndrome
mutations can cause developmental disorders
|
|
gptkbp:OMIM
|
182530
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Drosophila_melanogaster
|
|
gptkbp:product
|
gptkb:SOS1_protein
|
|
gptkbp:regulates
|
RAS activation
|
|
gptkbp:UniProtID
|
Q07889
|
|
gptkbp:bfsParent
|
gptkb:RTK-RAS_pathway
|
|
gptkbp:bfsLayer
|
6
|