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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| RB transcriptional corepressor 1 | MIM:614041 | Ensembl:ENSG00000139687 | HGNC:HGNC:9884 | PA295 | 13q14.2 |
GO terms in RB1
| 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 |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005667 | transcription factor complex |
| CC | IEA | GO:0005819 | spindle |
| CC | IDA | GO:0008024 | cyclin/CDK positive transcription elongation factor complex |
| CC | TAS | GO:0016514 | SWI/SNF complex |
| CC | IDA | GO:0016605 | PML body |
| CC | IBA | GO:0035189 | Rb-E2F complex |
| CC | IDA | GO:0035189 | Rb-E2F complex |
| CC | TAS | GO:0035189 | Rb-E2F complex |
| BP | TAS | GO:0000082 | G1/S transition of mitotic cell cycle |
| BP | TAS | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001558 | regulation of cell growth |
| BP | IEA | GO:0001894 | tissue homeostasis |
| BP | ISS | GO:0003180 | aortic valve morphogenesis |
| BP | TAS | GO:0006338 | chromatin remodeling |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | NAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IPI | GO:0006469 | negative regulation of protein kinase activity |
| BP | TAS | GO:0007050 | cell cycle arrest |
| BP | TAS | GO:0007093 | mitotic cell cycle checkpoint |
| BP | IEP | GO:0007265 | Ras protein signal transduction |
| BP | IBA | GO:0007346 | regulation of mitotic cell cycle |
| BP | IMP | GO:0007346 | regulation of mitotic cell cycle |
| BP | IMP | GO:0010629 | negative regulation of gene expression |
| BP | IEA | GO:0016032 | viral process |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | IBA | GO:0030182 | neuron differentiation |
| BP | NAS | GO:0030521 | androgen receptor signaling pathway |
| BP | IMP | GO:0031134 | sister chromatid biorientation |
| BP | IBA | GO:0031175 | neuron projection development |
| BP | IEA | GO:0031175 | neuron projection development |
| BP | IMP | GO:0034088 | maintenance of mitotic sister chromatid cohesion |
| BP | IEA | GO:0034349 | glial cell apoptotic process |
| BP | IEA | GO:0035914 | skeletal muscle cell differentiation |
| BP | IEA | GO:0042551 | neuron maturation |
| BP | IEA | GO:0043353 | enucleate erythrocyte differentiation |
| BP | TAS | GO:0043433 | negative regulation of DNA-binding transcription factor activity |
| BP | IDA | GO:0043550 | regulation of lipid kinase activity |
| BP | IMP | GO:0045445 | myoblast differentiation |
| BP | IEA | GO:0045651 | positive regulation of macrophage differentiation |
| BP | IMP | GO:0045842 | positive regulation of mitotic metaphase/anaphase transition |
| BP | IEA | GO:0045879 | negative regulation of smoothened signaling pathway |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | TAS | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | NAS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0048565 | digestive tract development |
| BP | IBA | GO:0048667 | cell morphogenesis involved in neuron differentiation |
| BP | IEA | GO:0048667 | cell morphogenesis involved in neuron differentiation |
| BP | IEA | GO:0050680 | negative regulation of epithelial cell proliferation |
| BP | ISS | GO:0050728 | negative regulation of inflammatory response |
| BP | IEA | GO:0051146 | striated muscle cell differentiation |
| BP | IEA | GO:0051301 | cell division |
| BP | IEA | GO:0051402 | neuron apoptotic process |
| BP | IMP | GO:0071459 | protein localization to chromosome, centromeric region |
| BP | IEA | GO:0071466 | cellular response to xenobiotic stimulus |
| BP | IMP | GO:0071922 | regulation of cohesin loading |
| BP | TAS | GO:0071930 | negative regulation of transcription involved in G1/S transition of mitotic cell cycle |
| BP | TAS | GO:0090230 | regulation of centromere complex assembly |
| BP | IEA | GO:0097284 | hepatocyte apoptotic process |
| BP | ISS | GO:1903055 | positive regulation of extracellular matrix organization |
| BP | ISS | GO:1904028 | positive regulation of collagen fibril organization |
| BP | ISS | GO:1904761 | negative regulation of myofibroblast differentiation |
| BP | IBA | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle |
| BP | TAS | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle |
| BP | IDA | GO:2000679 | positive regulation of transcription regulatory region DNA binding |
| MF | IDA | GO:0000987 | proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0001012 | RNA polymerase II regulatory region DNA binding |
| MF | IBA | GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IBA | GO:0001102 | RNA polymerase II activating transcription factor binding |
| MF | IEA | GO:0001102 | RNA polymerase II activating transcription factor binding |
| MF | TAS | GO:0003677 | DNA binding |
| MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | NAS | GO:0003713 | transcription coactivator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IDA | GO:0019900 | kinase binding |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | NAS | GO:0050681 | androgen receptor binding |
| MF | IPI | GO:0051219 | phosphoprotein binding |
| MF | IPI | GO:0061676 | importin-alpha family protein binding |
| MF | IPI | GO:0097718 | disordered domain specific binding |
Gene expression in normal tissue: RB1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RB1
| 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 |
| biocarta | hcmvpathway | human cytomegalovirus and map kinase pathways |
| biocarta | hivnefpathway | hiv-1 nef: negative effector of fas and tnf |
| biocarta | il2rbpathway | il-2 receptor beta chain in t cell activation |
| biocarta | p27pathway | regulation of p27 phosphorylation during cell cycle progression |
| biocarta | p53pathway | p53 signaling pathway |
| biocarta | pmlpathway | regulation of transcriptional activity by pml |
| biocarta | pparapathway | mechanism of gene regulation by peroxisome proliferators via ppara |
| biocarta | raccycdpathway | influence of ras and rho proteins on g1 to s transition |
| biocarta | rbpathway | rb tumor suppressor/checkpoint signaling in response to dna damage |
| biocarta | skp2e2fpathway | e2f1 destruction pathway |
| biocarta | telpathway | telomeres telomerase cellular aging and immortality |
| biocarta | tercpathway | overview of telomerase rna component gene hterc transcriptional regulation |
| biocarta | tidpathway | chaperones modulate interferon signaling pathway |
| reactome | R-HSA-113501 | Inhibition of replication initiation of damaged DNA by RB1/E2F1 |
| reactome | R-HSA-113501 | Inhibition of replication initiation of damaged DNA by RB1/E2F1 |
| reactome | R-HSA-113510 | E2F mediated regulation of DNA replication |
| reactome | R-HSA-113510 | E2F mediated regulation of DNA replication |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2299718 | Condensation of Prophase Chromosomes |
| reactome | R-HSA-2559583 | Cellular Senescence |
| reactome | R-HSA-2559584 | Formation of Senescence-Associated Heterochromatin Foci (SAHF) |
| reactome | R-HSA-2559585 | Oncogene Induced Senescence |
| reactome | R-HSA-2559586 | DNA Damage/Telomere Stress Induced Senescence |
| reactome | R-HSA-453279 | Mitotic G1-G1/S phases |
| reactome | R-HSA-453279 | Mitotic G1-G1/S phases |
| reactome | R-HSA-68875 | Mitotic Prophase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69200 | Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes |
| reactome | R-HSA-69202 | Cyclin E associated events during G1/S transition |
| reactome | R-HSA-69206 | G1/S Transition |
| reactome | R-HSA-69206 | G1/S Transition |
| reactome | R-HSA-69231 | Cyclin D associated events in G1 |
| reactome | R-HSA-69236 | G1 Phase |
| reactome | R-HSA-69242 | S Phase |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-69656 | Cyclin A:Cdk2-associated events at S phase entry |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| wikipathways | WP138 | Androgen receptor signaling pathway |
| wikipathways | WP1530 | miRNA Regulation of DNA Damage Response |
| wikipathways | WP179 | Cell Cycle |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2032 | Human Thyroid Stimulating Hormone (TSH) signaling pathway |
| wikipathways | WP2261 | Signaling Pathways in Glioblastoma |
| wikipathways | WP236 | Adipogenesis |
| wikipathways | WP2431 | Spinal Cord Injury |
| wikipathways | WP2446 | Retinoblastoma (RB) in Cancer |
| wikipathways | WP2586 | Aryl Hydrocarbon Receptor |
| wikipathways | WP2828 | Bladder Cancer |
| wikipathways | WP314 | Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation |
| wikipathways | WP3611 | Photodynamic therapy-induced AP-1 survival signaling. |
| wikipathways | WP3969 | H19 action Rb-E2F1 signaling and CDK-?-catenin activity |
| wikipathways | WP4204 | Tumor suppressor activity of SMARCB1 |
| wikipathways | WP45 | G1 to S cell cycle control |
| wikipathways | WP53 | ID signaling pathway |
| wikipathways | WP615 | Senescence and Autophagy in Cancer |
| wikipathways | WP707 | DNA Damage Response |
| kegg | hsa04110 | Cell cycle - Homo sapiens (human) |
| kegg | hsa04218 | Cellular senescence - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| kegg | hsa05161 | Hepatitis B - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| kegg | hsa05166 | HTLV-I infection - Homo sapiens (human) |
| kegg | hsa05167 | Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human) |
| kegg | hsa05169 | Epstein-Barr virus infection - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05203 | Viral carcinogenesis - Homo sapiens (human) |
| kegg | hsa05212 | Pancreatic cancer - Homo sapiens (human) |
| kegg | hsa05214 | Glioma - Homo sapiens (human) |
| kegg | hsa05215 | Prostate cancer - Homo sapiens (human) |
| kegg | hsa05218 | Melanoma - Homo sapiens (human) |
| kegg | hsa05219 | Bladder cancer - Homo sapiens (human) |
| kegg | hsa05220 | Chronic myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05222 | Small cell lung cancer - Homo sapiens (human) |
| kegg | hsa05223 | Non-small cell lung cancer - Homo sapiens (human) |
| kegg | hsa05224 | Breast cancer - Homo sapiens (human) |
| kegg | hsa05225 | Hepatocellular carcinoma - Homo sapiens (human) |
| kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
| pid | atf2_pathway | ATF-2 transcription factor network |
| pid | ceramide_pathway | Ceramide signaling pathway |
| pid | e2f_pathway | E2F transcription factor network |
| pid | foxm1pathway | FOXM1 transcription factor network |
| pid | hes_heypathway | Notch-mediated HES/HEY network |
| pid | p53downstreampathway | Direct p53 effectors |
| pid | p73pathway | p73 transcription factor network |
| pid | rb_1pathway | Regulation of retinoblastoma protein |
| netpath | Pathway_AndrogenReceptor | AndrogenReceptor |
| netpath | Pathway_BCR | BCR |
| netpath | Pathway_ID | ID |
| netpath | Pathway_IL1 | IL1 |
| netpath | Pathway_IL6 | IL6 |
| netpath | Pathway_Prolactin | Prolactin |
| netpath | Pathway_TGF_beta_Receptor | TGF_beta_Receptor |
| netpath | Pathway_TNFalpha | TNFalpha |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD291 | AC1NS4S0 | 1 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD727 | Alpelisib | 1 |
| iGMDRD309 | 17AAG | 1 |
| iGMDRD440 | Nutlin-3A | 1 |
| iGMDRD138 | PX 12 | 2 |
| iGMDRD33 | Entinostat | 1 |
| iGMDRD134 | Sorafenib | 1 |
| iGMDRD802 | 4-methylfasudil | 6 |
| iGMDRD280 | CYTOCHALASIN B | 1 |
| iGMDRD375 | GW-405833 | 5 |
| iGMDRD281 | Vinorelbine base | 1 |
| iGMDRD253 | Vincaleukoblastine | 1 |
| iGMDRD446 | LY 2183240 | 1 |
| iGMDRD66 | Doxorubicin | 1 |
| iGMDRD129 | SB-216763 | 1 |
| iGMDRD494 | Neopeltolide | 6 |
| iGMDRD579 | PF750 | 1 |
| iGMDRD599 | Salermide | 1 |
| iGMDRD886 | Compound 1541A | 3 |
| iGMDRD42 | Vorinostat | 3 |
| iGMDRD882 | CIL41 | 1 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD6 | AM-580 | 2 |
| iGMDRD551 | Ponatinib | 1 |
| iGMDRD917 | HDAC inhibitor | 3 |
| iGMDRD177 | Teniposide | 5 |
| iGMDRD211 | (1S,3R)-RSL3 | 1 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD160 | Cis-Platin | 3 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD652 | UNC0638 | 1 |
| iGMDRD148 | Pifithrin-mu | 2 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD356 | PNU-74654 | 2 |
| iGMDRD133 | Lapatinib | 1 |
| iGMDRD888 | Compound 44 | 2 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD468 | AZ628 | 1 |
| iGMDRD247 | Blebbistatin | 2 |
| iGMDRD493 | GSK269962A | 1 |
| iGMDRD568 | SCHEMBL15005512 | 1 |
| iGMDRD260 | FQI-2 | 1 |
| iGMDRD466 | Chaetocin | 3 |
| iGMDRD21 | Fluorouracil | 1 |
| iGMDRD61 | Kinetin riboside | 10 |
| iGMDRD748 | PHA-665752 | 1 |
| iGMDRD670 | ML 210 | 2 |
| iGMDRD546 | BMS-754807 | 5 |
| iGMDRD397 | Pazopanib | 1 |
| iGMDRD403 | BAY 61-3606 | 1 |
| iGMDRD409 | Saracatinib | 1 |
| iGMDRD76 | Simvastatin | 1 |
| iGMDRD889 | Compound 7d-cis | 2 |
| iGMDRD552 | AZD-1775 | 3 |
| iGMDRD322 | FK 866 | 8 |
| iGMDRD367 | Ro 28-1675 | 2 |
| iGMDRD662 | JQ-1 | 1 |
| iGMDRD221 | Tamoxifen | 1 |
| iGMDRD121 | GMX1778 | 5 |
| iGMDRD158 | NSC141540 | 5 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD202 | Curcumin | 2 |
| iGMDRD103 | SN-38 | 2 |
| iGMDRD123 | Isoevodiamine | 1 |
| iGMDRD879 | chemotherapy | 1 |
| iGMDRD154 | NSC23766 | 6 |
| iGMDRD237 | ABT-751 | 2 |
| iGMDRD352 | PD-0325901 | 1 |
| iGMDRD314 | Tanespimycin | 2 |
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD20 | Embelin | 1 |
| iGMDRD131 | Erlotinib | 1 |
| iGMDRD60 | Quinoclamine | 1 |
| iGMDRD562 | Navitoclax | 4 |
| iGMDRD577 | BIX01294 | 4 |
| iGMDRD573 | GSK-1904529A | 1 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD574 | Ruxolitinib | 1 |
| iGMDRD441 | TW 37 | 3 |
| iGMDRD318 | PAC-1 | 4 |
| iGMDRD491 | TAE-684 | 1 |
| iGMDRD255 | SB225002 | 2 |
| iGMDRD181 | CDK4 inhibitor | 1 |
| iGMDRD678 | Tubastatin A | 1 |
| iGMDRD587 | CHEMBL585951 | 1 |
| iGMDRD136 | Nutlin-3 | 1 |
| iGMDRD1008 | SR-II-138A | 6 |
| iGMDRD300 | Tozasertib | 4 |
| iGMDRD872 | BRD7137 | 5 |
| iGMDRD414 | MST-312 | 5 |
| iGMDRD241 | Sunitinib | 1 |
| iGMDRD68 | Paclitaxel | 1 |
| iGMDRD271 | Brefeldin A | 4 |
| iGMDRD499 | PDMP | 4 |
| iGMDRD351 | GW843682X | 6 |
| iGMDRD456 | Crizotinib | 1 |
| iGMDRD232 | FTI-277 | 1 |
| iGMDRD382 | CEP-701 | 1 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD64 | Parbendazole | 2 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD188 | Piperlongumine | 7 |
| iGMDRD780 | PP-30 | 1 |
| iGMDRD391 | OSU-03012 | 1 |
| iGMDRD224 | Necrostatin-1 | 1 |
| iGMDRD506 | Fedratinib | 4 |
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD284 | Palbociclib | 13 |
| iGMDRD507 | GSK690693 | 1 |
| iGMDRD152 | 179324-69-7 | 4 |
| iGMDRD427 | ABT737 | 6 |
| iGMDRD484 | Pluripotin | 2 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD420 | Leucascandrolide A | 2 |
| iGMDRD245 | FH535 | 1 |
| iGMDRD442 | BMS-509744 | 1 |
| iGMDRD67 | PENFLURIDOL | 1 |
| iGMDRD286 | Nsc 632839 | 8 |
| iGMDRD329 | Merck60 | 1 |
| iGMDRD289 | Parthenolide | 2 |
| iGMDRD705 | Nakiterpiosin | 3 |
| iGMDRD396 | AS601245 | 1 |
| iGMDRD251 | ML162 | 5 |
| iGMDRD49 | Mitomycin | 1 |
| iGMDRD376 | Tivozanib | 1 |
| iGMDRD532 | Olaparib | 2 |
| iGMDRD248 | BRD4354 | 1 |
| iGMDRD940 | MDM2/MDMX inhibitor | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RB1
CLASSFICATION
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