Gene content    
RB1 ( by HUGO)
Retinoblastoma 1
Tumor suppressor gene
Retinoblastoma 1
OSRC
Prepro-Retinoblastoma-Associated Protein
p105-Rb
pRb
pp110
osteosarcoma
RB
Retinoblastoma Suspectibility Protein
Retinoblastoma-Associated Protein
Rb
NCBI: 13q14.2    Ensembl: 13q14.2
RB_HUMANSize: 928 amino acidsMass: 106159 Da

  • Subunit: Interacts with ATAD5. Interacts with PRMT2, CDK1 and CDK2 (By similarity). The hypophosphorylated form interacts with and sequesters the E2F1 transcription factor. Interacts with heterodimeric E2F/DP transcription factor complexes containing TFDP1 and either E2F1, E2F3, E2F4 or E2F5, or TFDP2 and E2F4. The unphosphorylated form interacts with EID1, ARID3B, KDM5A, SUV39H1, MJD2A/JHDM3A and THOC1. Interacts with the N-terminal domain of TAF1. Interacts with SNW1, AATF, DNMT1, LIN9, LMNA, SUV420H1, SUV420H2, PELP1, UHRF2 and TMPO-alpha. May interact with NDC80. Interacts with GRIP1 and UBR4. Interacts with ARID4A and KDM5B. Interacts with E4F1 and LIMD1. Interacts with SMARCA4/BRG1 AND HDAC1 (By similarity). Interacts with adenovirus E1A protein, HPV E7 protein and SV40 large T antigen. Interacts with PSMA3 and USP4. Interacts (when methylated at Lys-860) with L3MBTL1. Interacts with CHEK2; phosphorylates RB1. Interacts with human cytomegalovirus/HHV-5 protein UL123 Selected PDB 3D structures from [IMAGE] and Proteopedia [IMAGE] for RB1 (see all 14): 1AD6 (3D) [IMAGE] 1GH6 (3D) [IMAGE] 1GUX (3D) [IMAGE] 1H25 (3D) [IMAGE] 1N4M (3D) [IMAGE] 1O9K (3D) [IMAGE]
  • Tissue specificity: Expressed in the retina [IMAGE] Pathway & Disease-focused RT2 Profiler PCR Arrays including RB1 (see all 22): Lung Cancer in human mouse rat Stem Cell Transcription Factors in human mouse rat Nitric Oxide Signaling Pathway in human mouse rat Autophagy in
  • Function:
    UniProtKB/Swiss-Prot Summary: RB_HUMAN, P06400 Function: Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G0-G1 transition when phosphorylated by CDK3/cyclin-C. Acts as a transcription repressor of E2F1 target genes. The underphosphorylated, active form of RB1 interacts with E2F1 and represses its transcription activity, leading to cell cycle arrest. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, SUV420H1 and SUV420H2, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity). In case of viral infections, interactions with SV40 large T antigen, HPV E7 protein or adenovirus E1A protein induce the disassembly of RB1-E2F1 complex thereby disrupting RB1's activity
  • Similarity:
    Belongs to the retinoblastoma protein (RB) family [IMAGE]

    • Protein Domain/Family    
    Source ID Domain Name Type
    InterProIPR002719RB_BRetinoblastoma-associated protein, B-boxDomain
    IPR002720RB_ARetinoblastoma-associated protein, A-boxDomain
    BlocksIPB002720Retinoblastoma-associated proteinRetinoblastoma-associated protein, A-box
    IPB006670CyclinCyclin

    Gene Ontology    
    Type Term Evidence Source Pub
    Biological Process androgen receptor signaling pathway NAS GOA 15572661
    cell cycle arrest TAS GOA 19149898
    cell cycle checkpoint TAS GOA 10825186
    chromatin remodeling TAS GOA 19149898
    mitotic cell cycle checkpoint TAS GOA 9529249
    myoblast differentiation IMP GOA 15541338
    negative regulation of G1/S transition of mitotic cell cycle TAS GOA 19149898
    negative regulation of protein kinase activity IPI GOA 9858607
    negative regulation of sequence-specific DNA binding transcription factor activity TAS GOA 9529249
    negative regulation of transcription from RNA polymerase II promoter during mitosis TAS GOA 19149898
    negative regulation of transcription, DNA-templated TAS GOA 19149898
    negative regulation of transcription, DNA-templated IDA GOA 10783144
    positive regulation of transcription, DNA-templated NAS GOA 15572661
    Ras protein signal transduction IEP GOA 9054499
    regulation of lipid kinase activity IDA GOA 16286473
    regulation of transcription involved in G1/S transition of mitotic cell cycle TAS GOA 19149898
    Cellular Component chromatin TAS GOA 3657987
    nucleus IDA GOA 17540172
    PML body IDA GOA 9448006
    Rb-E2F complex TAS GOA 19149898
    SWI/SNF complex TAS GOA 19149898
    Molecular Function androgen receptor binding NAS GOA 15572661
    core promoter binding IDA GOA 15735762
    DNA binding TAS GOA 3657987
    identical protein binding IPI GOA 16360038
    kinase binding IDA GOA 16286473
    phosphoprotein binding IPI GOA 16360038
    protein binding IPI GOA 10613832
    sequence-specific DNA binding transcription factor activity TAS GOA 3657987
    transcription coactivator activity NAS GOA 15572661
    transcription factor binding IPI GOA 16360038
    ubiquitin protein ligase binding IPI GOA 10944455

    Disorder & Mutation    
    Source Disease
    Genatlasretinoblastoma susceptibility,associated with a dysmorphic phenotype and mental retardation and/or motor impairment in patients with a constitutional 13q deletion
    SWISS-PROTBladder cancer (BLC) [MIM:109800]: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
    SWISS-PROTChildhood cancer retinoblastoma (RB) [MIM:180200]: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated. Note=The disease is caused by mutations affecting the gene represented in this entry

    RB1 cross reference    
    PubMed OMIM Entrez Gene NCKU SNP Nucleotide UniProt Genome Data Viewer HomoloGene