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RB1 Gene

protein-coding   GIFtS: 74
GCID: GC13P048877

Retinoblastoma 1

(Previous name: osteosarcoma)
(Previous symbol: OSRC)
  See RB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinoblastoma 11 2     osteosarcoma1
OSRC1 2     RB2
Prepro-Retinoblastoma-Associated Protein1 2     Retinoblastoma Suspectibility Protein2
p105-Rb2 3     Retinoblastoma-Associated Protein2
pRb2 3     Rb3
pp1102 3     

External Ids:    HGNC: 98841   Entrez Gene: 59252   Ensembl: ENSG000001396877   OMIM: 6140415   UniProtKB: P064003   

Export aliases for RB1 gene to outside databases

Previous GC identifers: GC13P046877 GC13P042865 GC13P047814 GC13P046675 GC13P047775 GC13P029670


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RB1 Gene:
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)

GeneCards Summary for RB1 Gene:
RB1 (retinoblastoma 1) is a protein-coding gene. Diseases associated with RB1 include unilateral retinoblastoma, and osteosarcoma, somatic. GO annotations related to this gene include transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is RBL2.

UniProtKB/Swiss-Prot: 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

Gene Wiki entry for RB1 (Retinoblastoma protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the RB1 gene promoter:
         MZF-1   PPAR-gamma1   SRY   GATA-6   ATF-2   PPAR-gamma2   AP-2gamma   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRB1 promoter sequence
   Search Chromatin IP Primers for RB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q14.2   Ensembl cytogenetic band:  13q14.2   HGNC cytogenetic band: 13q14.2

RB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RB1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P048877:  view genomic region     (about GC identifiers)

Start:
48,877,883 bp from pter      End:
49,056,122 bp from pter
Size:
178,240 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RB_HUMAN, P06400 (See protein sequence)
Recommended Name: Retinoblastoma-associated protein  
Size: 928 amino acids; 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 and Proteopedia for RB1 (see all 14):
1AD6 (3D)        1GH6 (3D)        1GUX (3D)        1H25 (3D)        1N4M (3D)        1O9K (3D)    
Secondary accessions: A8K5E3 P78499 Q5VW46 Q8IZL4

Explore the universe of human proteins at neXtProt for RB1: NX_P06400

Explore proteomics data for RB1 at MOPED

Post-translational modifications: 

  • Phosphorylated by CDK6 and CDK4, and subsequently by CDK2 at Ser-567 in G1, thereby releasing E2F1 which is then
    able to activate cell growth. Dephosphorylated at the late M phase. SV40 large T antigen, HPV E7 and adenovirus
    E1A bind to the underphosphorylated, active form of pRb. Phosphorylation at Thr-821 and Thr-826 promotes
    interaction between the C-terminal domain C and the Pocket domain, and thereby inhibits interactions with
    heterodimeric E2F/DP transcription factor complexes. Dephosphorylated at Ser-795 by calcineruin upon calcium
    stimulation. CDK3/cyclin-C-mediated phosphorylation at Ser-807 and Ser-811 is required for G0-G1 transition.
    Phosphorylated by CDK1 and CDK2 upon TGFB1-mediated apoptosis (By similarity)1
  • N-terminus is methylated by METTL11A/NTM1 (By similarity). Monomethylation at Lys-810 by SMYD2 enhances
    phosphorylation at Ser-807 and Ser-811, and promotes cell cycle progression. Monomethylation at Lys-860 by SMYD2
    promotes interaction with L3MBTL11
  • Acetylation at Lys-873 and Lys-874 regulates subcellular localization, at least during keratinocytes
    differentiation1
  • Ubiquitination2 at Lys265, Lys279, Lys341, Lys810, Lys847, Lys900
  • Modification sites at PhosphoSitePlus

  • See RB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000312.2  
    ENSEMBL proteins: 
     ENSP00000434702   ENSP00000267163  
    Reactome Protein details: P06400

    RB1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant RB1 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for RB1
    GenScript Custom Purified and Recombinant Proteins Services for RB1
    Novus Biologicals RB1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for RB1
    Cloud-Clone Corp. Proteins for RB1

     
    Search eBioscience for Proteins for RB1 

     
    antibodies-online proteins for RB1 (13 products) 

     
    antibodies-online peptides for RB1

    RB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of RB1
    R&D Systems Antibodies for RB1
    Cell Signaling Technology (CST) Antibodies for RB1  (Rb)
    OriGene Antibodies for RB1
    OriGene Custom Antibody Services for RB1
    Novus Biologicals RB1 Antibodies
    Abcam antibodies for RB1
    Cloud-Clone Corp. Antibodies for RB1
    ThermoFisher Antibody for RB1
    antibodies-online antibodies for RB1 (355 products) 

    RB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RB1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RB1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RB1
    Cloud-Clone Corp. CLIAs for RB1
    Search eBioscience for ELISAs for RB1 
    antibodies-online kits for RB1 (27 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    Selected InterPro protein domains (see all 7):
     IPR015030 RB_C
     IPR028309 RB_fam
     IPR013763 Cyclin-like
     IPR024599 RB_N
     IPR002720 RB_A

    Graphical View of Domain Structure for InterPro Entry P06400

    ProtoNet protein and cluster: P06400

    2 Blocks protein domains:
    IPB002720 Retinoblastoma-associated protein
    IPB006670 Cyclin


    UniProtKB/Swiss-Prot: RB_HUMAN, P06400
    Domain: The Pocket domain binds to the threonine-phosphorylated domain C, thereby preventing interaction with
    heterodimeric E2F/DP transcription factor complexes
    Similarity: Belongs to the retinoblastoma protein (RB) family


    Find genes that share domains with RB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular 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

         Genatlas biochemistry entry for RB1:
    retinoblastoma gene product,nuclear phosphoprotein,110kDa,cell-cycle dependent (regulator of cell
    growth),interacting with E2F-like transcription factor,also interacting with histone deacetylase (HDAC1) to
    repress transcription CDC2 substrate and with BOG (B5T overexpressed gene) to suppress growth inhibitory effect
    of TGFB1,overexpressed in bladder cancer with poor prognosis and in parathyroid hyperplasia,deleted in pituitary
    tumors (somatotrophinomas)

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001047core promoter binding IDA15735762
    GO:0001102RNA polymerase II activating transcription factor binding IEA--
    GO:0003674molecular_function ----
    GO:0003677DNA binding TAS3657987
    GO:0003700sequence-specific DNA binding transcription factor activity TAS3657987
         
    Find genes that share ontologies with RB1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 21 alleles(MGI details for Rb1) (see all 27):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 

    Find genes that share phenotypes with RB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RB1: Rb1tm2Mlh Rb1tm1Brd Rb1tm1Mlh Rb1tm1.2Gfk Rb1tm3.1Tyj Rb1tm2.1Jyjw
                                                         Rb1tm2Tyj Rb1tm1Tyj Rb1tm2Htr Rb1tm2.1Brn

       genOway: Develop your customized and physiologically relevant rodent model for RB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RB1:
    hsa-mir-192-5p (MIRT006435), hsa-mir-106a-5p (MIRT001840), hsa-mir-20a-5p (MIRT005857), hsa-mir-215-5p (MIRT024341), hsa-mir-106b-5p (MIRT004664), hsa-mir-130b-3p (MIRT020177), hsa-mir-99a-5p (MIRT048653), hsa-mir-100-5p (MIRT048586), hsa-mir-335-5p (MIRT003587), hsa-mir-675-5p (MIRT004749), hsa-mir-23b-3p (MIRT003425), hsa-mir-93-5p (MIRT028033), hsa-mir-212-3p (MIRT006504), hsa-mir-26a-5p (MIRT003213), hsa-mir-17-5p (MIRT005850), hsa-mir-21-5p (MIRT030738), hsa-mir-149-5p (MIRT045442), hsa-mir-132-3p (MIRT006503)

    Block miRNA regulation of human, mouse, rat RB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RB1 (see all 47):
    hsa-let-7d hsa-miR-106a hsa-miR-199a-3p hsa-miR-519a hsa-miR-10b* hsa-let-7g hsa-miR-3658 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidRB1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RB1
    Predesigned siRNA for gene silencing in human, mouse, rat RB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RB1

    Clone
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    OriGene clones in human, mouse for RB1 (see all 7)
    OriGene ORF clones in mouse, rat for RB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): RB1 (NM_001112)
    Sino Biological Human cDNA Clone for RB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RB1
    Addgene plasmids for RB1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for RB1
    Browse ESI BIO Cell Lines and PureStem Progenitors for RB1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RB1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12349) for RB1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RB_HUMAN, P06400: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    cytosol1
    extracellular1
    mitochondrion1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin TAS3657987
    GO:0005575cellular_component ----
    GO:0005634nucleus IDA17540172
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex ----

    Find genes that share ontologies with RB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RB1 About   (see all 56)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Glioma
    Glioma0.51
    Prostate cancer0.39
    Non-small cell lung cancer0.51
    Signaling Pathways in Glioblastoma0.36
    Melanoma0.43
    Bladder cancer0.31
    2Cyclins and Cell Cycle Regulation
    Cyclins and Cell Cycle Regulation0.67
    G1 Phase0.31
    G1-S Phase Transition0.67
    Cyclin D associated events in G10.31
    Cell Cycle Control by BTG Proteins0.36
    Phosphorylation of proteins involved in G1/S transition by active Cyclin E-Cdk2 complexes0.00
    3E2F mediated regulation of DNA replication
    Mitotic G1-G1/S phases0.81
    E2F mediated regulation of DNA replication0.30
    G1/S Transition0.81
    Inhibition of replication initiation of damaged DNA by RB1/E2F10.00
    G1 to S cell cycle control0.35
    4Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    5CDK-mediated phosphorylation and removal of Cdc6
    Switching of origins to a post-replicative state0.93
    Cyclin E associated events during G1/S transition0.86
    Orc1 removal from chromatin0.93
    Removal of licensing factors from origins0.86
    Regulation of DNA replication0.93
    Cyclin A-Cdk2-associated events at S phase entry0.85
    Synthesis of DNA0.92
    S Phase0.78


    Find genes that share SuperPaths with RB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RB1 (see all 21)
        Caspase Cascade
    Cell Cycle Control by BTG Proteins
    Telomerase Components in Cell Signaling
    BRCA1 Pathway
    Molecular Mechanisms of Cancer

    1 Cell Signaling Technology (CST) Pathway for RB1
        Cell Cycle / Checkpoint Control

    4 GeneGo (Thomson Reuters) Pathways for RB1
        Transcription P53 signaling pathway
    Cell cycle Regulation of G1/S transition (part 2)
    Cell cycle ESR1 regulation of G1/S transition
    Cell cycle Cell cycle (generic schema)

    Selected BioSystems Pathways for RB1 (see all 24)
        Cell cycle
    DNA damage response
    Senescence and Autophagy
    Adipogenesis
    G1 to S cell cycle control


    Selected Reactome Pathways for RB1 (see all 8)
        Cyclin A:Cdk2-associated events at S phase entry
    Formation of Senescence-Associated Heterochromatin Foci (SAHF)
    Condensation of Prophase Chromosomes
    Inhibition of replication initiation of damaged DNA by RB1/E2F1
    Orc1 removal from chromatin


    Selected Kegg Pathways  (Kegg details for RB1) (see all 14):
        Cell cycle
    Hepatitis B
    HTLV-I infection
    Epstein-Barr virus infection
    Pathways in cancer

        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 human mouse rat
              Prostate Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RB1 (P064001, 2, 3 ENSP000002671634) via UniProtKB, MINT, STRING, and/or I2D (see all 377)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4LP628053, ENSP000003482584I2D: score=1 STRING: ENSP00000348258
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 49):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint TAS10825186
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000083regulation of transcription involved in G1/S transition of mitotic cell cycle TAS19149898
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0000278mitotic cell cycle TAS--

    Find genes that share ontologies with RB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RB1 (RB)

    2 DrugBank Compounds for RB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--1701386 17016423 17139284
    Insulin Regular -- 11061-68-0target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for RB1 gene (see all 108)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hpvs 60.9 6 16908054 (1), 15657429 (1), 9188631 (1), 1648361 (1)
    8-methylguanine 55.8 1 17150691 (1)
    olomoucine 47.7 3 17006629 (1), 10228011 (1), 10542199 (1)
    purvalanol a 44.6 1 17006629 (1)
    flavopiridol 40.9 4 15569374 (2), 15868376 (1)
    roscovitine 40.8 4 15231455 (1), 11295463 (1), 20372802 (1), 10542199 (1)
    7-hydroxystaurosporine 35.1 4 8960146 (1)
    sb 203580 32.5 2 11787050 (1), 10075927 (1)
    retinoic acid 29.2 53 9158000 (6), 8741214 (6), 7979182 (4), 10706449 (3) (see all 22)
    ly294002 28.7 2 14559232 (1), 11787050 (1)



    Find genes that share compounds with RB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RB1 gene: 
    NM_000321.2  

    Unigene Cluster for RB1:

    Retinoblastoma 1
    Hs.408528  [show with all ESTs]
    Unigene Representative Sequence: L41870
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525036 ENST00000467505 ENST00000267163(uc010acs.1 uc001vcb.3 uc010act.1)
    ENST00000480491 ENST00000531171 ENST00000484879
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RB1 (see all 47):
    hsa-let-7d hsa-miR-106a hsa-miR-199a-3p hsa-miR-519a hsa-miR-10b* hsa-let-7g hsa-miR-3658 hsa-miR-93
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    Predesigned siRNA for gene silencing in human, mouse, rat RB1
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    OriGene ORF clones in mouse, rat for RB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): RB1 (NM_001112)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RB1
    Addgene plasmids for RB1 
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat RB1
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12349) for RB1 

    Additional mRNA sequence: 

    AB208788.1 AF043224.1 AK291258.1 AK299179.1 AK300284.1 AK307125.1 AK307730.1 AY429568.1 
    BC039060.1 BC040540.1 L41870.1 M15400.1 M19701.1 M28419.1 M33647.1 

    11 DOTS entries:

    DT.454518  DT.100686921  DT.100646970  DT.91885647  DT.92431763  DT.100646969  DT.120781672  DT.120781898 
    DT.65284981  DT.75188041  DT.40198388 

    Selected AceView cDNA sequences (see all 198):

    BM453724 AA361277 BQ222227 CA413166 AI745643 BU754243 AI082179 BM128703 
    BF439572 BX282736 BQ439221 BM720385 M28419 BM561083 AL599633 BU507703 
    AL597811 M33647 BM471037 T29791 AL599105 BM466194 AA767255 BM450031 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    RB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATATCATAC
    RB1 Expression
    About this image


    RB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Rod Precursor Cells Outer Nuclear Layer
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    RB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.408528

    UniProtKB/Swiss-Prot: RB_HUMAN, P06400
    Tissue specificity: Expressed in the retina

        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 human mouse rat
              Prostate Cancer in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for RB1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rb11 , 5 retinoblastoma 11, 5 88.09(n)1
    90.23(a)1
      14 (38.73 cM)5
    196451  NM_009029.21  NP_033055.21 
     731836735 
    chicken
    (Gallus gallus)
    Aves RB11 retinoblastoma 1 73.77(n)
    75.22(a)
      386582  NM_204419.1  NP_989750.1 
    lizard
    (Anolis carolinensis)
    Reptilia RB16
    retinoblastoma 1
    67(a)
    1 ↔ 1
    1(136867520-136935223)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL972632.22   -- 74.11(n)    AL972632.2 
    zebrafish
    (Danio rerio)
    Actinopterygii rb11 retinoblastoma 1 58.97(n)
    57.46(a)
      777733  NM_001077780.1  NP_001071248.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rbf6
    Rbf26
    Retinoblastoma-family protein 2
    20(a)
    18(a)
    many ↔ many
    many ↔ many
    X(691121-695490)
    3R(11791173-11793860)
    worm
    (Caenorhabditis elegans)
    Secernentea lin-356
    Protein LIN-35 (lin-35) mRNA, complete cds
    15(a)
    1 → many
    I(5807709-5815637) WBGene00003020


    ENSEMBL Gene Tree for RB1 (if available)
    TreeFam Gene Tree for RB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for RB1 gene
    RBL22  RBL12  
    2 SIMAP similar genes for RB1 using alignment to 25 protein entries:     RB_HUMAN (see all proteins):
    DKFZp781K2028    RBL2

    Find genes that share paralogs with RB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for RB1 (see all 2815)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0055824
    Childhood cancer retinoblastoma (RB)4--see VAR_0055822 R W mis40--------
    VAR_0055764
    Childhood cancer retinoblastoma (RB)4--see VAR_0055762 M R mis40--------
    VAR_0055874
    Childhood cancer retinoblastoma (RB)4--see VAR_0055872 C R mis40--------
    VAR_0100494
    Childhood cancer retinoblastoma (RB)4--see VAR_0100492 K R mis40--------
    VAR_0055814
    Childhood cancer retinoblastoma (RB)4--see VAR_0055812 V E mis40--------
    VAR_0055734
    Childhood cancer retinoblastoma (RB)4--see VAR_0055732 E D mis40--------
    VAR_0055844
    Childhood cancer retinoblastoma (RB)4--see VAR_0055842 H P mis40--------
    VAR_0115804
    Childhood cancer retinoblastoma (RB)4--see VAR_0115802 R G mis40--------
    VAR_0055784
    Childhood cancer retinoblastoma (RB)4--see VAR_0055782 H Y mis40--------
    VAR_0055884
    Childhood cancer retinoblastoma (RB)4--see VAR_0055882 N K mis40--------

    HapMap Linkage Disequilibrium report for RB1 (48877883 - 49056122 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for RB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747380CNV Deletion23290073
    esv2747379CNV Deletion23290073
    esv1206120CNV Deletion17803354
    esv1248194CNV Deletion17803354
    esv2747378CNV Deletion23290073
    esv2675818CNV Deletion23128226
    nsv832602CNV Loss17160897
    esv29390CNV Gain19812545
    esv275387CNV Gain+Loss21479260

    Human Gene Mutation Database (HGMD): RB1
    Locus Specific Mutation Databases (LSDB): RB1

    Selected Site Specific Mutation Identification with PCR Assays for RB1 (see all 12):
    Cosmic IdAA Change
    883p.C706F
    890p.E137*
    869p.L660fs*2
    879p.R358*
    888p.R556*
    5 Site Specific Cancer Mutation PCR Panels containing RB1:
    Oncogene and Tumor Suppressor Panel 384HT
    Pathway
    Cancer Comprehensive Panel 384HT
    Tumor Suppressor Panel 384HT
    Skin Cancers
    3 Copy Number PCR Panels containing RB1:
    Oncogenes & Tumor Suppressor Genes 384HC
    Breast Cancer
    Lung Cancer
    SeqTarget long-range PCR primers for resequencing RB1
    DNA2.0 Custom Variant and Variant Library Synthesis for RB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614041   
    OMIM disorders: 180200  259500  109800  182280  
    UniProtKB/Swiss-Prot: RB_HUMAN, P06400
  • Childhood 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
  • Bladder 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
  • Osteogenic sarcoma (OSRC) [MIM:259500]: A sarcoma originating in bone-forming cells, affecting the ends
    of long bones. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for RB1 (see all 25):    
    About MalaCards
    unilateral retinoblastoma    osteosarcoma, somatic    retinoblastoma    familial retinoblastoma
    trilateral retinoblastoma    small cell cancer of the lung, somatic    monosomy 13q14    hematologic cancer
    chromosome 13q deletion    pleomorphic lipoma    bladder cancer, somatic    bilateral retinoblastoma
    growth hormone secreting pituitary adenoma    brown-vialetto-van laere syndrome 2    clear cell chondrosarcoma    osteosarcoma
    spindle cell lipoma    hepatic angiomyolipoma    brown-vialetto-van laere syndrome    gliomatosis cerebri

    3 diseases from the University of Copenhagen DISEASES database for RB1:
    Retinoblastoma     Breast cancer     Carcinoma

    Find genes that share disorders with RB1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for RB1 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 97.2 1231 15231717 (6), 16672052 (6), 14726655 (5), 16127685 (5) (see all 99)
    hereditary retinoblastoma 89.8 45 10486322 (4), 7603079 (3), 8217129 (2), 8651278 (2) (see all 26)
    tumors 80 1484 2167152 (8), 8834174 (6), 10414500 (6), 15161658 (6) (see all 99)
    allelic loss 76.7 56 8467510 (3), 8909313 (3), 16402033 (2), 9665476 (2) (see all 39)
    sporadic retinoblastoma 74.3 17 12402348 (3), 8504130 (1), 15231717 (1), 14660307 (1) (see all 7)
    osteosarcoma 69 131 8781571 (6), 9665476 (5), 9891508 (5), 14660307 (4) (see all 61)
    cancer 67.5 263 8344484 (4), 9218727 (3), 8074836 (3), 8117619 (3) (see all 99)
    allelic imbalance 62.7 15 12940460 (2), 16570290 (2), 7947078 (1), 9031117 (1) (see all 11)
    eye cancer 60.3 2 17437278 (1), 18073428 (1)
    carcinoma 59.7 125 15154011 (4), 18036045 (3), 11956626 (3), 15731778 (3) (see all 76)

    Genatlas disease: RB1
    retinoblastoma susceptibility,associated with a dysmorphic phenotype and mental retardation and/or motor
    impairment in patients with a constitutional 13q deletion

    GeneTests: RB1
    GeneReviews: RB1
    Genetic Association Database (GAD): RB1
    Human Genome Epidemiology (HuGE) Navigator: RB1 (35 documents)
    Tumor Gene Database (TGDB): RB1

    Export disorders for RB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for RB1 gene, integrated from 10 sources (see all 2289):
    (articles sorted by number of sources associating them with RB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2, 3 Dunham A.... Ross M.T. (Nature 2004)
    2. Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. (PubMed id 7935440)1, 2, 9 Kim Y.W.... Kaye F.J. (Mol. Cell. Biol. 1994)
    3. MDM2 promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma protein. (PubMed id 16337594)1, 2, 9 Sdek P.... Xiao Z.X. (Mol. Cell 2005)
    4. Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression. (PubMed id 16127685)1, 4, 9 Albrecht P....Lohmann D.R. (Hum. Mutat. 2005)
    5. Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. (PubMed id 14722923)1, 4, 9 Houdayer C....Stoppa-Lyonnet D. (Hum. Mutat. 2004)
    6. Common variants in RB1 gene and risk of invasive ovarian cancer. (PubMed id 17047088)1, 4, 9 Song H....Pharoah P.D. (Cancer Res. 2006)
    7. Single-nucleotide polymorphisms in the RB1 gene and association with breast cancer in the British population. (PubMed id 16685266)1, 4, 9 Lesueur F....Ponder B.A. (Br. J. Cancer 2006)
    8. Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect. (PubMed id 15763650)1, 4, 9 SchA1ler A....Lohmann D.R. (Eur. J. Cancer 2005)
    9. Cdk phosphorylation triggers sequential intramolecular interactions that progressively block Rb functions as cells move through G1. (PubMed id 10499802)1, 2, 9 Harbour J.W.... Dean D.C. (Cell 1999)
    10. Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. (PubMed id 7795591)1, 2, 9 Blanquet V.... Besmond C. (Hum. Mol. Genet. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 5925 HGNC: 9884 AceView: RB1 Ensembl:ENSG00000139687 euGenes: HUgn5925
    ECgene: RB1 Kegg: 5925 H-InvDB: RB1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RB1 Genetics and Cytogenetics in Oncology and Haematology
    RB1basehttp://rb1-lsdb.d-lohmann.de/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RB1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rb1/
    Wikipedia http://en.wikipedia.org/wiki/Retinoblastoma_protein

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RB1 gene:
    Search GeneIP for patents involving RB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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