|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:RB1
|
|
gptkbp:associatedWith
|
gptkb:small_cell_lung_carcinoma
gptkb:retinoblastoma
bladder cancer
osteosarcoma
|
|
gptkbp:discoveredBy
|
gptkb:Stephen_H._Friend
gptkb:Thaddeus_Dryja
|
|
gptkbp:discoveredIn
|
1986
|
|
gptkbp:encodes
|
gptkb:retinoblastoma-associated_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:RB1
5925
ENSG00000139687
|
|
gptkbp:expressedIn
|
retina
various tissues
|
|
gptkbp:function
|
tumor suppressor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
9884
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
retinoblastoma 1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:Mdm2
gptkb:BRCA1
gptkb:Cyclin_D1
gptkb:E2F1
gptkb:HDAC1
gptkb:p53
|
|
gptkbp:isTumorSuppressorGene
|
true
|
|
gptkbp:length
|
928 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_13
13q14.2
|
|
gptkbp:molecularWeight
|
106 kDa
|
|
gptkbp:mutationAssociatedWith
|
hereditary retinoblastoma
increased cancer risk
sporadic retinoblastoma
loss of function
|
|
gptkbp:OMIM
|
614041
|
|
gptkbp:orthologInMouse
|
gptkb:Rb1
|
|
gptkbp:phosphorylates
|
gptkb:CDK2
gptkb:CDK4
gptkb:CDK6
|
|
gptkbp:regulates
|
gptkb:E2F_transcription_factors
apoptosis
cell proliferation
differentiation
cell cycle
senescence
|
|
gptkbp:UniProtID
|
P06400
|
|
gptkbp:bfsParent
|
gptkb:RB1_gene
|
|
gptkbp:bfsLayer
|
8
|