neurofibromin

URI: https://gptkb.org/entity/neurofibromin
GPTKB entity
Statements (18)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkbp:alternativeSplicing yes
gptkbp:discoveredBy gptkb:Francis_S._Collins
gptkbp:domain gptkb:GRD_(GAP-related_domain)
gptkbp:encodedBy gptkb:NF1_gene
gptkbp:firstDescribed 1990
gptkbp:foundIn gptkb:Homo_sapiens
gptkbp:function gptkb:GTPase-activating_protein
tumor suppressor
https://www.w3.org/2000/01/rdf-schema#label neurofibromin
gptkbp:location gptkb:cytoplasm
gptkbp:molecularWeight ~320 kDa
gptkbp:mutationAssociatedWith gptkb:neurofibromatosis_type_1
gptkbp:OMIM 613113
gptkbp:regulates gptkb:Ras_signaling_pathway
gptkbp:UniProtID P21359
gptkbp:bfsParent gptkb:Neurofibromatosis_type_1
gptkbp:bfsLayer 6