|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:RB1
|
|
gptkbp:associatedWith
|
gptkb:retinoblastoma
bladder cancer
Small Cell Lung Cancer
osteosarcoma
|
|
gptkbp:database
|
gptkb:GeneCards
gptkb:NCBI_Gene
gptkb:Ensembl
|
|
gptkbp:discoveredBy
|
gptkb:Stephen_H._Friend
gptkb:Thaddeus_Dryja
|
|
gptkbp:discoveredIn
|
1986
|
|
gptkbp:encodes
|
gptkb:retinoblastoma-associated_protein
|
|
gptkbp:Entrez_Gene_ID
|
5925
|
|
gptkbp:expressedIn
|
retina
many tissues
|
|
gptkbp:firstDescribed
|
1986
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:gene
|
gptkb:RB1
|
|
gptkbp:geneProduct
|
gptkb:pRb
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9884
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Retinoblastoma 1
|
|
gptkbp:interactsWith
|
gptkb:Mdm2
gptkb:CDK4
gptkb:CDK6
gptkb:E2F1
gptkb:HDAC1
|
|
gptkbp:length
|
928 amino acids
180 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_13
13q14.2
|
|
gptkbp:mutationAssociatedWith
|
loss-of-function
loss of cell cycle control
|
|
gptkbp:mutationInheritance
|
autosomal dominant
|
|
gptkbp:numberOfExons
|
27
|
|
gptkbp:OMIM
|
614041
|
|
gptkbp:orthologInMouse
|
gptkb:Rb1
|
|
gptkbp:pathway
|
DNA damage response
p53 signaling pathway
cell cycle pathway
|
|
gptkbp:phosphorylates
|
gptkb:CDK2
gptkb:CDK4
gptkb:CDK6
|
|
gptkbp:proteinFamily
|
pRb family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
gptkb:E2F_transcription_factors
cell cycle
|
|
gptkbp:UniProtID
|
P06400
|
|
gptkbp:bfsParent
|
gptkb:RB1
|
|
gptkbp:bfsLayer
|
6
|