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RB1 Gene

protein-coding   GIFtS: 71

GC13P047775
retinoblastoma 1
(Previous name: osteosarcoma )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: OSRC)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
OSRC 2
OTTHUMP00000018397 2
RB 2
Rb 3
osteosarcoma 1
p105-Rb 2, 3
pRb 2, 3
pp110 2, 3
Descriptions
retinoblastoma 1 2
retinoblastoma suspectibility protein 2
retinoblastoma-associated protein 2
External Ids
HGNC: 98841
Entrez Gene: 59252
UniProtKB: P064003
Ensembl: ENSG000001396877
Search outside databases for aliases for RB1 gene

Previous GC identifers: GC13P046877 GC13P042865 GC13P047814 GC13P046675

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for RB1:
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]

UniProtKB/Swiss-Prot: RB_HUMAN, P06400
Function: Key regulator of entry into cell division that acts as a tumor suppressor. 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. 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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the RB1 gene  

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)

GeneLoc gene densities for chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P047775:     (about GC identifiers)

Start:
47,775,884 bp from pter
End:
47,954,027 bp from pter
Size:
178,144 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000013.9  NT_024524.13  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: RB_HUMAN, P06400 (See protein sequence)
Recommended Name: Retinoblastoma-associated protein  
Size: 928 amino acids; 106159 Da
Subunit: Interacts with ATAD5 (By similarity). The hypophosphorylated form interacts with and
sequesters the E2F1 transcription factor. The unphosphorylated form interacts with ARID3B, KDM5A,
SUV39H1, MJD2A/JHDM3A and THOC1. Interacts with the N-terminal domain of TAF1. Interacts with
AATF, DNMT1, LIN9, LMNA, SUV420H1, SUV420H2, PELP1 and TMPO-alpha. May interact with NDC80.
Interacts with EID1 and UBR4. Interacts with ARID4A and KDM5B. Interacts with E4F1. Interacts with
adenovirus E1A protein, HPV E7 protein and SV40 large T antigen
Subcellular location: Nucleus
PDB structures from and Proteopedia :
1AD6 (3D)    1GH6 (3D)    1GUX (3D)    1H25 (3D)    1N4M (3D)    1O9K (3D)    1PJM (3D)    2AZE (3D)    
2QDJ (3D)    2R7G (3D)    
Secondary accessions: P78499 Q5VW46 Q8IZL4

Post-translational modifications:

  • Phosphorylated 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 pRb1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000312.2  

    ENSEMBL proteins: 
    ENSP00000267163 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant RB1 Protein
    Sigma-Aldrich CompoZr ZFN for RB1  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (cleaved RB, Rb)
    Human Recombinant Proteins from Abnova (RB1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785 chromatin TAS3657987
    GO:0005634 nucleus TAS3657987
    GO:0005654 nucleoplasm EXP9190208 11931757 14527418
    GO:0005667 transcription factor complex IEA--
    GO:0005819 spindle IEA--
    About this table

    Antibodies for RB1: 
    Invitrogen Antibodies for RB1
    Millipore Mono- and Polyclonal Antibodies for the study of RB1
    Sigma-Aldrich Antibody Arrays and Antibodies for RB1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for RB1  (Rb)
    Antibodies from Abcam (cleaved RB, Rb), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (RB1)
    Novus Biologicals Antibodies for RB1

    Assays for RB1: 
    Invitrogen Assays for RB1
    Millipore Kits and Assays for the Analysis of RB1
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/6 InterPro domains/families (see all 6 ):
     IPR015030 Rb_C
     IPR002719 RB_B
     IPR015652 Rb_associated
     IPR013763 Cyclin_related
     IPR002720 RB_A


       GeneDecks  RB1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P06400

    ProtoNet protein and cluster: P06400

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


    UniProtKB/Swiss-Prot: RB_HUMAN, P06400
    Similarity: Belongs to the retinoblastoma protein (RB) family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RB1)
    Millipore RNAi Products for the Analysis of RB1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (RB1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000321

                  Applied Biosystems Silencer® siRNAs for RB1

                  Sigma-Aldrich siRNA for RB1  
                         Sigma-Aldrich shRNA Panels and shRNA for RB1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000321
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000321
                                     untagged cDNA clone in CMV expression vector: NM_000321 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000321

    UniProtKB/Swiss-Prot: RB_HUMAN, P06400
    Function: Key regulator of entry into cell division that acts as a tumor suppressor. 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. 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)

    15/27 MGI mutant phenotypes (inferred from 17 alleles(MGI details for Rb1) (see all 27 ):

    behavior/neurologicalcellularcraniofacialdigestive/alimentary
    embryogenesisendocrine/exocrine glandgrowth/sizehearing/vestibular/earhematopoietic system
    homeostasis/metabolismimmune systemlethality-postnatallethality-prenatal/perinatallife span-post-weaning/aging

    5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700 transcription factor activity TAS3657987
    GO:0003713 transcription coactivator activity NAS15572661
    GO:0008134 transcription factor binding IEA--
    GO:0016564 transcription repressor activity IEA--
    GO:0019900 kinase binding IDA16286473
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/6 Invitrogen iPath™ Online BioAtlas - Pathways for RB1 (see all 6 ) (Maps provided by GeneGo):
     Opioid and somatostatin systems in negative cell growth regulation via MAP kinase pathways
     Caspases cascade activation by granzyme and other signaling proteins
     Regulatory cascade of cyclin gene expression
     Regulation of G1-S transition
     P53 signaling pathway

       GeneDecks  RB1 for the pathways selected above  
    About GeneDecksing

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

       GeneDecks  RB1 for the pathways selected above  
    About GeneDecksing

    5/14 Sigma-Aldrich "Your Favorite Gene" Pathways for  RB1  (Your Favorite Gene powered by Ingenuity) (see all 14
     Molecular Mechanisms of Cancer
     Cell Cycle: G1/S Checkpoint Regulation
     Bladder Cancer Signaling
     Melanoma Signaling
     Role of BRCA1 in DNA Damage Response

       GeneDecks  RB1 for the pathways selected above  
    About GeneDecksing

    1 Cell Signaling Technology (CST) Pathway for RB1: 
     Cell Cycle Control: G1/S Checkpoint

       GeneDecks  RB1 for the pathways selected above  
    About GeneDecksing

    5/10 Kegg Pathways  (Kegg details for RB1) (see all 10 ):
     hsa04110 Cell cycle
     hsa05200 Pathways in cancer
     hsa05212 Pancreatic cancer
     hsa05214 Glioma
     hsa05215 Prostate cancer

       GeneDecks  RB1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  RB1 


    5/289 Interacting proteins for RB1 (P064001, 2 ENSP000002671633) via UniProtKB, MINT, and/or STRING (see all 289 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDM4O151512, ENSP000003561513MINT-1788517 MINT-1788556 MINT-1788602 MINT-1788626 STRING (score=.973)
    CUX1P398802, ENSP000003534013MINT-13923 MINT-13924 MINT-13926 MINT-13925 STRING (score=.97)
    CHEK2O960172, ENSP000003720233MINT-4793708 MINT-4793686 MINT-4793727 STRING (score=.932)
    CHEK1O147572, ENSP000002789163MINT-4793782 MINT-4793761 MINT-4793746 STRING (score=.811)
    E2F2Q142092, ENSP000003552493MINT-4793621 MINT-4793646 STRING (score=.999)
    About this table

    5/20 Gene Ontology (GO) biological process terms (links to tree view) (see all 20 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075 cell cycle checkpoint TAS10825186
    GO:0000082 G1/S transition of mitotic cell cycle IEA--
    GO:0000122 negative regulation of transcription from RNA polymerase II promoter TAS9491888
    GO:0000279 M phase NAS7542657
    GO:0006350 transcription IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for RB1
    10/46 Novoseek chemical compound relationships for RB1 gene (see all 46 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    hpvs 60.27 6 16908054 (1), 15657429 (1), 9188631 (1), 1648361 (1)
    8-methylguanine 56.30 1 17150691 (1)
    purvalanol a 46.07 1 17006629 (1)
    1,25 dihydroxy vitamin d3 27.04 9 9157012 (2), 8741214 (2), 7521842 (1), 8227169 (1) (see all 5)
    mimosine 26.40 1 14576085 (1)
    thymidine 21.32 9 11079678 (3), 1732054 (1), 1631162 (1), 11522750 (1) (see all 7)
    polypropylene glycol 21.27 2 18297059 (2)
    [alcl] 19.74 8 15161658 (4)
    bromodeoxyuridine 16.30 2 9261365 (1), 18769121 (1)
    smai 14.94 1 14660307 (1)
    About this table

    2 PharmGKB drug compound relationships for RB1 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    mercaptopurinePD  FA  GN  12704389
    methotrexatePD  FA  GN  12704389
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (RB1)
    Millipore RNAi Products for the Analysis of RB1 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (RB1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000321

                  Sigma-Aldrich siRNA for RB1  
                         Sigma-Aldrich shRNA Panels and shRNA for RB1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000321  

    REFSEQ mRNAs for RB1 gene: 

    NM_000321.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000321  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000321
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000321
                                     untagged cDNA clone in CMV expression vector: NM_000321 

    Additional cDNA 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.40198388  DT.65284981  DT.75188041 

    24/198 AceView cDNA sequences (see all 198 ):

    AL599633 L41870 BM466194 BM450031 BQ222227 AI359426 BU754243 BX282736 
    M33647 BM561083 BM453724 BQ439221 CA413166 M28419 N62929 AA594282 
    W01191 CB143909 AA767255 AW951604 AA361277 CB215593 BM678724 AL599105 

    highest scoring ESTs for RB1:

    L41870 M15400 AA045192 AA197314 AA205859 AA210736 AA210875 AA252075 AA252108 AA258255 

    Unigene Cluster for RB1:

    Retinoblastoma 1
    Hs.408528  [show with all ESTs]
    Unigene Representative Sequence: L41870


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000267163  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    RB1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for RB1

    1 / 2 / 3

    10 probe-sets matching RB1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    1905_s_at2, 3 U95-A 1 1.00 1.00 0.68 0.55 HG2441-HT2537 0.20 1.00 0.72 1

    2044_s_at2, 3 U95-A 1 1.00 1.00 0.73 1.59 M15400 1.00 0.90 0.95 1

    1672_f_at2, 3 U95-A 1 1.00 1.00 0.65 0.17 L41913 0.20 1.00 0.72 1

    1900_at2, 3 U95-A 1 1.00 1.00 0.53 0.96 L41870 1.00 0.90 0.95 1

    1571_f_at2, 3 U95-A 1 0.94 1.00 0.76 0.95 L49229 0.20 1.00 0.72 1

    1570_f_at2, 3 U95-A 2 0.81 0.92 0.09 0.22 L49219 0.20 1.00 0.72 1

    203132_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000321 0.60 1.00 0.82 1

    211540_s_at2, 3 U133-A 1 1.00 1.00 -- -- M19701 0.60 1.00 0.82 1

    203132_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    211540_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AATATCATAC

    SOURCE GeneReport for Unigene cluster: Hs.408528

    Expression variation in blood from EXPOLDB for RB1

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for RB1 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    RB11   -- retinoblastoma 1 93.26(n)
    94.01(a)
    476915  XM_534118.2  XP_534118.2 
    chimpanzee
    (Pan troglodytes)
    RB11   -- retinoblastoma 1 (including osteosarcoma) 99.86(n)
    99.89(a)
    452715  XM_509777.2  XP_509777.2 
    cow
    (Bos taurus)
    RB11   -- retinoblastoma 1 92.64(n)
    93.43(a)
    534712  NM_001076907.1  NP_001070375.1 
    rat
    (Rattus norvegicus)
    Rb11   -- retinoblastoma 1 88.37(n)
    90.54(a)
    24708  XM_344434.3  XP_344435.3 
    mouse
    (Mus musculus)
    Rb11, 5 14 (41.00 cM)5
    retinoblastoma 11, 5 88.71(n)1
    91.1(a)1
    196451  NM_009029.11  NP_033055.11 
     AI3238355  AK0112465  (see all 14)
    About this table        Species with no ortholog for RB1

    ENSEMBL Gene Tree for RB1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for RB1 gene
    RBL22  RBL12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1008 NCBI SNPs in RB1 are shown (see all 1008 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 320)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 13 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs41515391,2
    C,F,H47853459(+) AAAAGC/GCTTTG 1 A/G mis118Minor allele frequency- G:0.11NS EU EA WA NA 1618
    rs15736011,2
    C,F,H47774358(+) TAGGAA/CTGGCT 1 -- ng5116Minor allele frequency- CA:0.01EA NA EU WA NS 2660
    --
    rs30928711,2
    C,F,H47774593(+) TTTCCT/CTCTCA 1 -- ng51 trp311Minor allele frequency- C:0.30NS EU EA 1062
    rs41516321,2
    F,H47953063(+) GTATAG/AAGGAC 1 -- ut31 ese35Minor allele frequency- A:0.01NS EU EA WA 586
    --
    rs30928961,2
    F,H47925230(+) GAATAA/GTCACA 1 N/S mis15Minor allele frequency- AG:0.00EU EA WA 496
    --
    rs30928751,2
    C,F47775317(+) CTACTA/CTCCGT 1 -- ng511Minor allele frequency- AC:0.23--13
    rs30928911,2
    F,H47851731(+) TGTAGC/TGATAC 1 R/X non15Minor allele frequency- CC:0.18EU EA WA 496
    rs41516311,2
    F,H47952671(+) TGCAAT/ATTGAT 1 -- ut315Minor allele frequency- A:0.01NS EU EA WA 588
    --
    rs30929051,2
    F,H47937160(+) CAAAGA/GAGAGG 1 E/G mis1 ese3 trp35Minor allele frequency- G:0.00EU EA WA 496
    rs41516351,2
    F,H47953895(+) TTAAAT/CAATGC 1 -- ut315Minor allele frequency- C:0.03NS EU EA WA 598
    About this table

    HapMap Linkage Disequilibrium images for RB1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 180200

    UniProtKB/Swiss-Prot: RB_HUMAN, P06400

  • Defects in RB1 are the cause of childhood cancer retinoblastoma (RB) [MIM:180200]. RB is a
    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
  • Defects in RB1 are a cause of bladder cancer [MIM:109800]
  • Defects in RB1 are a cause of osteogenic sarcoma [MIM:259500]
  • 10/96 Novoseek disease relationships for RB1 gene (see all 96 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 97.23 1174 15231717 (6), 16672052 (6), 14726655 (5), 16127685 (5) (see all 99)
    hereditary retinoblastoma 90.10 45 10486322 (4), 7603079 (3), 8217129 (2), 8651278 (2) (see all 26)
    tumors 80.01 1427 2167152 (8), 8834174 (6), 10414500 (6), 15161658 (6) (see all 99)
    allelic loss 77.16 56 8467510 (3), 8909313 (3), 8174043 (2), 9665476 (2) (see all 39)
    sporadic retinoblastoma 74.93 17 12402348 (3), 8504130 (1), 15231717 (1), 14660307 (1) (see all 7)
    osteosarcoma 69.34 131 8781571 (6), 9665476 (5), 9891508 (5), 14660307 (4) (see all 61)
    cancer 66.78 227 8344484 (4), 9218727 (3), 8074836 (3), 8117619 (3) (see all 99)
    allelic imbalance 63.81 15 12940460 (2), 16570290 (2), 7947078 (1), 9031117 (1) (see all 11)
    eye cancer 61.81 2 17437278 (1), 18073428 (1)
    carcinoma 60.35 122 15154011 (4), 18036045 (3), 11956626 (3), 15731778 (3) (see all 74)
    About this table

    1 PharmGKB disease relationship for RB1 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1PD  FA  GN  12086872 12704389
    About this table

    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
    Retinoblastoma

    Human Gene Mutation Database: RB1
    Genetic Association Database: RB1
    Human Genome Epidemiology Navigator: RB1 (23 documents)
    Tumor Gene Database: RB1
    Breast Cancer Gene Database: RB1

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    100/1845 PubMed articles for RB1 gene (see all 1845 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Search String
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 5925 HGNC: 9884 AceView: RB1 Ensembl:ENSG00000139687 euGenes: HUgn5925
    ECgene: RB1 H-InvDB: RB1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for RB1 Genetics and Cytogenetics in Oncology and Haematology
    RB1basehttp://rb1-lsdb.d-lohmann.de/
    GeneReviewshttp://www.genetests.org/query?gene=RB1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rb1/
    Wikipedia http://en.wikipedia.org/wiki/Retinoblastoma_protein
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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