|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:schwannomatosis
gptkb:Noonan_syndrome
gptkb:glioblastoma
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
gptkb:LZTR1_protein
|
|
gptkbp:Entrez_Gene_ID
|
9400
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
gptkb:leucine_zipper_like_transcription_regulator_1
|
|
gptkbp:function
|
ubiquitination
regulation of RAS signaling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:6727
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LZTR1 gene
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:locatedOnChromosome
|
gptkb:22q11.21
chromosome 22
|
|
gptkbp:mutationAssociatedWith
|
predisposition to tumor formation
|
|
gptkbp:OMIM
|
600574
|
|
gptkbp:orthologInMouse
|
gptkb:Lztr1
|
|
gptkbp:pathway
|
gptkb:ubiquitin-proteasome_pathway
gptkb:RAS-MAPK_pathway
|
|
gptkbp:proteinFamily
|
BTB domain
Kelch domain
|
|
gptkbp:tissue_specificity
|
gptkb:kidney
brain
heart
|
|
gptkbp:UniProtID
|
gptkb:Q8N653
|
|
gptkbp:bfsParent
|
gptkb:RTK-RAS_pathway
|
|
gptkbp:bfsLayer
|
6
|