RB1

GPTKB entity

Statements (54)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:pRb
gptkb:retinoblastoma-associated_protein
RB
gptkbp:associatedWith gptkb:retinoblastoma
bladder cancer
Small Cell Lung Cancer
osteosarcoma
gptkbp:discoveredBy gptkb:Stephen_H._Friend
gptkb:Thaddeus_Dryja
gptkbp:discoveredIn 1986
gptkbp:encodes gptkb:retinoblastoma_protein
gptkbp:Entrez_Gene_ID 5925
gptkbp:expressedIn many tissues
gptkbp:firstDescribed retinoblastoma patients
gptkbp:fullName gptkb:Retinoblastoma_1
gptkbp:function tumor suppressor
gptkbp:geneType protein-coding
gptkbp:hasTranscriptVariant multiple
gptkbp:HGNC_ID 9884
https://www.w3.org/2000/01/rdf-schema#label RB1
gptkbp:inheritance autosomal dominant
gptkbp:inhibitedBy gptkb:E2F_transcription_factors
gptkbp:interactsWith gptkb:MDM2
gptkb:BRCA1
gptkb:Cyclin_D1
gptkb:DP1
gptkb:E2F1
gptkb:HDAC1
gptkb:p53
gptkbp:length 928 amino acids
gptkbp:locatedOnChromosome 13q14.2
gptkbp:lossOfFunctionLeadsTo uncontrolled cell proliferation
gptkbp:molecularWeight ~110 kDa
gptkbp:mutationAssociatedWith germline
hereditary retinoblastoma
increased cancer risk
somatic
sporadic retinoblastoma
gptkbp:OMIM 614041
gptkbp:orthologInMouse gptkb:Rb1
gptkbp:phosphorylates gptkb:CDK2
gptkb:CDK4
gptkb:CDK6
gptkbp:proteinFamily C-terminal domain
pocket domain
gptkbp:referenceGenome gptkb:GRCh38
gptkbp:regulates cell cycle
G1/S cell cycle transition
gptkbp:UniProtID P06400
gptkbp:bfsParent gptkb:Canary_Wharf_Pier
gptkb:Meteor_Clipper
gptkb:Woolwich_(Royal_Arsenal)_Pier
gptkbp:bfsLayer 5