|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:hereditary_gingival_fibromatosis_type_1
gptkb:Noonan_syndrome
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:domain
|
gptkb:PH_domain
CDC25 domain
DH domain
REM domain
|
|
gptkbp:encodedBy
|
gptkb:SOS1_gene
|
|
gptkbp:Entrez_Gene_ID
|
ENSG00000115904
|
|
gptkbp:fullName
|
Son of Sevenless homolog 1
|
|
gptkbp:function
|
guanine nucleotide exchange factor
|
|
gptkbp:gene
|
gptkb:SOS1
|
|
gptkbp:HGNC_ID
|
11187
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOS-1
|
|
gptkbp:interactsWith
|
gptkb:RAS_proteins
gptkb:GRB2
|
|
gptkbp:involvedIn
|
gptkb:RAS_signaling_pathway
|
|
gptkbp:locatedOnChromosome
|
2p22-p16
|
|
gptkbp:location
|
gptkb:cytoplasm
gptkb:plasma_membrane
|
|
gptkbp:molecularWeight
|
~155 kDa
|
|
gptkbp:mutationAssociatedWith
|
gain-of-function mutations cause Noonan syndrome
mutations can cause developmental disorders
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
Drosophila Son of Sevenless (Sos)
|
|
gptkbp:PDB
|
1XD4
|
|
gptkbp:RefSeq
|
NM_005633
|
|
gptkbp:UniProtID
|
Q07889
|
|
gptkbp:bfsParent
|
gptkb:SOS1_gene
gptkb:SOS1_protein
gptkb:Son_of_sevenless_1
|
|
gptkbp:bfsLayer
|
7
|