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RB1

Summary: The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008].

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Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
NameRB transcriptional corepressor 1 OMIM IDMIM:614041 Ensembl IDEnsembl:ENSG00000139687 HGNC IDHGNC:HGNC:9884 PHARMGKB IDPA295 Map Location13q14.2

Gene Categories:

CLINICALLY ACTIONABLE TRANSCRIPTION FACTOR BINDING TUMOR SUPPRESSOR KINASE TRANSCRIPTION FACTOR COMPLEX DRUGGABLE GENOME LIPID KINASE

GO terms in RB1

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Term Type	Evidence Type	GO Term ID	GO Des.
CC	IBA	GO:0000785	chromatin
CC	TAS	GO:0000785	chromatin
CC	IBA	GO:0005634	nucleus
CC	IDA	GO:0005634	nucleus
CC	NAS	GO:0005634	nucleus
CC	IDA	GO:0005654	nucleoplasm

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Gene expression in normal tissue: RB1

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in RB1

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Database	Pathway ID	Pathway Des.
biocarta	arfpathway	tumor suppressor arf inhibits ribosomal biogenesis
biocarta	btg2pathway	btg family proteins and cell cycle regulation
biocarta	cellcyclepathway	cyclins and cell cycle regulation
biocarta	faspathway	fas signaling pathway (cd95)
biocarta	fbw7pathway	cyclin e destruction pathway
biocarta	g1pathway	cell cycle: g1/s check point

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Gene-Drug: Aster Plot

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Drug ID	Drug Name	Model Num.
iGMDRD291	AC1NS4S0	1
iGMDRD451	Serdemetan	3
iGMDRD887	Compound 23 citrate	2
iGMDRD727	Alpelisib	1

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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in RB1

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	Model	Level	Reference ID	Tissue	Cancer	Drug	Clinical Response	Source
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