Show Advanced Search
""
""

Advanced Search (alpha)

""
 
Search By
Section
for


Category   Symbol Source: HGNC EntrezGene Ensembl
GIFtS
Search by expression pattern


RB1 Gene

protein-coding   GIFtS: 71

GC13P048877
retinoblastoma 1
(Previous name: osteosarcoma )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: OSRC)
"" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""Services    
 "" "" "" "" "" "" "" "" "" "" "" "" ""

Aliases &
Descriptions
for RB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

  User Feedback
Aliases & Descriptions
retinoblastoma 11 2     osteosarcoma1
RB1 2     retinoblastoma suspectibility protein2
p105-Rb2 3     retinoblastoma-associated protein2
pp1102 3     OSRC2
pRb2 3     Rb3

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

Search outside databases for aliases for RB1 gene

Previous GC identifers: GC13P046877 GC13P042865 GC13P047814 GC13P046675 GC13P047775

Summaries
for RB1 gene

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

  User Feedback		 Entrez Gene 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. 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)

Genomic Views
for RB1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
About This Section

  User Feedback		 Regulatory elements:
"" SABiosciences Regulatory transcription factor binding sites in the RB1 gene upstream (promoter) region "":
SRY   ATF-2   Sp1   NF-1   YY1   FOXJ2 (long isoform)   POU2F1   CREB   E2F-5   E2F   

Epigenetics:
"" SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for RB1:  ""
MePH28532-1A   

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)
""

GeneLoc gene densities for 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
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  

Proteins
for RB1 gene

(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 Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

  User Feedback		 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. 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 AATF, DNMT1, LIN9, LMNA,
SUV420H1, SUV420H2, PELP1 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
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: A8K5E3 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 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 stimulation1
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins: NP_000312.2  

    ENSEMBL proteins: 
    ENSP00000267163 


    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
    ""HuPro® and/or Recombinant Proteins from Abnova for RB1 ""
    ""Browse Origene full length recombinant human proteins expressed in human HEK293 cells
    ""Novus Biologicals Protein for RB1  ""
    ""Browse Sino Biological Recombinant Proteins  ""

    5/8 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785 chromatin TAS3657987
    GO:0005634 nucleus IDA17540172
    GO:0005654 nucleoplasm EXP9190208 11931757 14527418
    GO:0005667 transcription factor complex ----
    GO:0005819 spindle IEA--
    About this table

    "" RB1 for ontologies           About GeneDecksing



    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)
    ""Monoclonal and Polyclonal Antibodies from Abnova (RB1)
    "" Origene Antibodies (see all 4): RB1 ""
    ""Novus Biologicals Antibodies for RB1
    ""Epitomics antibodies for RB1

    Assays for RB1: 
    ""Millipore Kits and Assays for the Analysis of RB1
    ""Sigma-Aldrich ELISAs for RB1
    "" Browse R&D Systems for biochemical assays
    ""Browse Enzo Life Sciences for kits & assays

    Protein Domains/
    Families
    for RB1 gene

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

      User Feedback
    "" RB1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7 ):
     IPR015030 Rb_C
     IPR006670 Cyclin
     IPR011028 Cyclin-like
     IPR013763 Cyclin_related
     IPR002720 RB_A

    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
    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

    Gene Function
    for RB1 gene

    (According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Millipore RNAi Products for the Analysis of RB1 Gene knock-down
    ""Abnova Chimera RNAi Products for Gene knock-down (RB1)
    "" Origene 29mer shRNA kits in GFP-retroviral vector: RB1
    Origene shRNA RFP: RB1
    Origene basic RS shRNA: RB1

    ""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 Clones for the Expression of Recombinant Proteins Available from Millipore
    ""Browse iPSC Reprogramming Factors at Sigma-Aldrich
    "" Origene GFP tagged cDNA clones in CMV expression vector: RB1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: RB1
    Origene untagged cDNA clones in CMV expression vector: RB1
    ""Sino Biological Human cDNA Clone for RB1  ""

    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. 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)

    5/10 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 10 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding TAS3657987
    GO:0003700 transcription factor activity TAS3657987
    GO:0003713 transcription coactivator activity NAS15572661
    GO:0005515 protein binding IPI7503932 7542657 7592647 7664264 8756624 9395244 9448006 9858607 10783144 11073990 11162467 11268000 12525503 14506250 14555653 14645241 15542589 16249186 16286473 16616919 16766265 17045206 17274640 17540172
    GO:0008134 transcription factor binding IPI16360038
    About this table

    "" RB1 for ontologies           About GeneDecksing

    Animal Models: 15/30 MGI mutant phenotypes (inferred from 22 alleles"") (MGI details for Rb1) (see all 30 ):

    adipose tissuebehavior/neurologicalcardiovascular systemcellularcraniofacial
    digestive/alimentaryembryogenesisendocrine/exocrine glandgrowth/sizehearing/vestibular/ear
    hematopoietic systemhomeostasis/metabolismimmune systemlethality-postnatallethality-prenatal/perinatal

    "" RB1 for phenotypes           About GeneDecksing

    Pathways & Interactions
    for RB1 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
    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 May 2010 via Entrez Gene).
    About This Section

      User Feedback
    "" RB1 for pathways           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)

    5/18 "" Sigma-Aldrich "Your Favorite Gene" Pathways for  RB1  (Your Favorite Gene powered by Ingenuity) (see all 18 )
      ""  Role of Oct4 in Mammalian Embryonic Stem Cell Pluripotency
    Cell Cycle: G1/S Checkpoint Regulation
    Ovarian Cancer Signaling
    Chronic Myeloid Leukemia Signaling
    Small Cell Lung Cancer Signaling

    5/26 "" GeneAssist Pathways for RB1 (see all 26 )
      ""  Pathogenesis of Gliomas
    Fas Signaling
    Cell Cycle Control by BTG Proteins
    G1-S Phase Transition
    Telomerase Components in Cell Signaling

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

    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

    "" SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RB1

    5/133 Interacting proteins for RB1 (P064001, 2 ENSP000002671633) via UniProtKB, MINT, and/or STRING (see all 133 ) ""
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F1Q010941, 2, ENSP000003455713EBI-491274,EBI-448924 MINT-1777462 MINT-4793606 MINT-1777305 MINT-4793665 MINT-73329 MINT-4793592 EBI-491274,EBI-448924 MINT-1777462 MINT-4793606 MINT-1777305 MINT-4793665 MINT-73329 MINT-4793592 STRING: ENSP00000345571
    HDAC1Q135471, 2, ENSP000003626493EBI-491274,EBI-301834 MINT-73395 MINT-6628404 MINT-77956 EBI-491274,EBI-301834 MINT-73395 MINT-6628404 MINT-77956 STRING: ENSP00000362649
    E2F2Q142092, ENSP000003552493MINT-4793621 MINT-4793646 STRING: ENSP00000355249
    MDM2Q009872, ENSP000002581493MINT-1776635 STRING: ENSP00000258149
    TAF1P216751, ENSP000002760723EBI-491274,EBI-491289 STRING: ENSP00000276072
    About this table

    5/27 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 27 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075 cell cycle checkpoint TAS10825186
    GO:0000082 G1/S transition of mitotic cell cycle ----
    GO:0000083 regulation of transcription involved in G1/S-phase of mitotic cell cycle TAS19149898
    GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000279 M phase NAS7542657
    About this table

    "" RB1 for ontologies           About GeneDecksing


    Drugs & Compounds
    for RB1 gene

    (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

      User Feedback
    "" RB1 for compounds           About GeneDecksing

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

    "" Browse Tocris compounds for RB1
    10/429 ""Novoseek chemical compound relationships for RB1 gene (see all 429 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    progesterone 20.21 279 18042733 (7), 12017551 (7), 17341556 (5), 14667967 (5) (see all 100)
    flavopiridol 17.13 24 11289134 (8), 19174488 (4), 15868376 (2), 15569374 (2) (see all 12)
    p202 15.51 12 7890747 (3), 8896460 (2), 12894219 (2), 9821952 (1) (see all 8)
    p 105 8.73 22 9282329 (1), 9121775 (1), 8485048 (1), 8289506 (1) (see all 22)
    bcl2 8.46 22 15354733 (2), 12468913 (2), 11642719 (2), 10361135 (2) (see all 18)
    cdp 7.27 12 12891711 (6), 9282329 (2), 8876167 (2), 9540062 (1) (see all 5)
    hmba 7.03 13 1419904 (6), 9205091 (2), 7935434 (2), 9655257 (1) (see all 6)
    delta-tocotrienol 5.32 4 19035289 (4)
    ag 1024 5.19 4 12649208 (4)
    pruv 4.95 3 15976082 (3)
    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


    Transcripts
    for RB1 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 223 Homo sapiens; Apr 2 2010) 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 Millipore and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
    Expression Assays from Applied Biosystems)
    About This Section

      User Feedback
    Inhib.
    RNA:    		""Millipore RNAi Products for the Analysis of RB1 Gene knock-down
    ""Abnova Chimera RNAi Products for Gene knock-down (RB1)
    ""Applied Biosystems Silencer® siRNAs:  NM_000321  
    "" Origene 29mer shRNA kits in GFP-retroviral vector: RB1
    Origene shRNA RFP: RB1
    Origene basic RS shRNA: RB1

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

    microRNA:""10/21 SABiosciences microRNAs that regulate RB1 (see all 21 ): ""
    hsa-let-7d hsa-miR-106a hsa-let-7c hsa-miR-192 hsa-let-7g hsa-let-7a hsa-miR-215 hsa-miR-33b hsa-miR-17 hsa-miR-98
    Assays:  ""Applied Biosystems TaqMan® Gene Expression Assays:  
    NM_000321  


    Clones:"" Origene GFP tagged cDNA clones in CMV expression vector: RB1
    Origene Myc/DDK tagged cDNA clones in CMV expression vector: RB1
    Origene untagged cDNA clones in CMV expression vector: RB1
    Primers:"" Origene genome-wide validated SYBR primer pairs: RB1
    ""SABiosciences RT2 qPCR Primer Assay for RB1: PPH00228A ""

    REFSEQ mRNAs for RB1 gene: 

    NM_000321.2  

    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 ):

    AL597811 AI745644 BF439572 BM678724 BM450031 AA767255 BM466194 BQ222227 
    BU507703 AI745643 AW503514 BX457212 AW951604 BX282736 BU754243 BQ439221 
    AI359426 AL599105 T29791 BM720385 BM471037 M33647 BM561083 L41870 

    "" 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

    4 Ensembl transcripts including schematic representations:
    ENST00000467505  ENST00000480491  ENST00000267163  ENST00000484879  

    Expression
    for RB1 gene

    (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 223 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, Primers from OriGene and/or SABiosciences )
    About This Section

      User Feedback

    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
    1571_f_at2, 3 U95-A 1 0.88 1.00 0.76 0.95 L49229 0.20 1.00 0.72 1
    1570_f_at2, 3 U95-A 1 0.44 1.00 0.09 0.22 L49219 0.20 1.00 0.72 1
    1900_at2, 3 U95-A 1 0.44 1.00 0.53 0.96 L41870 1.00 0.90 0.95 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 0.91 1.00 -- -- M19701 0.60 1.00 0.82 1
    203132_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    211540_s_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    "" RB1 for expression           About GeneDecksing

    Data from Genenote  (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

    Primers:"" Origene genome-wide validated SYBR primer pairs: RB1 ""
    ""SABiosciences RT2 qPCR Primer Assay for RB1: PPH00228A ""

    Orthologs
    for RB1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

      User Feedback
    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 
     AA7096285  AI3238355  (see all 16)
    About this table        Species with no ortholog for RB1

    ENSEMBL Gene Tree for RB1

    Paralogs
    for RB1 gene

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

      User Feedback
    Paralogs for RB1 gene
    RBL22  RBL12  

    "" RB1 for paralogs           About GeneDecksing


    Genomic Variants
    for RB1 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
    About This Section

      User Feedback
    10/1240 NCBI SNPs in RB1 are shown (see all 1240 )
    (Click "" for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 313)
    ABGenomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 13 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    ""
    rs30928951,2
    		C,F49027140(+) CCTTTA/TTTTGA 2 L F ref1 mis1""5Minor allele frequency- AA:0.18NS EA 496""
    ""
    rs41516301,2
    		F,H49054391(+) TAGTCA/TTTGTT 1 -- ut31""5Minor allele frequency- T:0.01NS EA 592""
    ""
    rs41515391,2
    		C,F48955458(+) AAAAGC/GCTTTG 2 A G ref1 mis1""19Minor allele frequency- G:0.11NS EA NA WA 1668""
    ""
    rs41516311,2
    		C,F49054670(+) TGCAAT/ATTGAT 1 -- ut31""5Minor allele frequency- A:0.01NS EA 588""
    --
    rs30929051,2
    		C,F49039159(+) CAAAGA/GAGAGG 2 E G ref1 mis1 ese3 trp3""5Minor allele frequency- G:0.00NS EA 496""
    --
    rs41514181,2
    		C,F29669968(+) GGATGC/TCTCCT 1 -- ng51""1Minor allele frequency- T:0.02NS 178""
    --
    rs30928711,2
    		C,F29668854(+) TTTCCT/CTCTCA 1 -- ng51 trp3""12Minor allele frequency- C:0.29NS EA WA 1112""
    --
    rs73370561,2
    		C,F29669404(+) tctggG/Tgatta 1 -- ng51""1Minor allele frequency- T:0.24WA 50""
    ""
    rs30928911,2
    		C,F48953730(+) TGTAGC/TGATAC 2 R X ref1 non1""5Minor allele frequency- CC:0.18NS EA 496""
    ""
    rs15736011,2
    		C,F29668619(+) TAGGAA/CTGGCT 1 -- ng51""30Minor allele frequency- CA:0.00EA NA NS 4936""
    About this table

    HapMap Linkage Disequilibrium images for RB1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)  ""
    Database of Genomic Variants (DGV): 3 variations for RB1
         1 CNV: 71711
         2 Indels: 25262 25261

    Disorders & Mutations
    for RB1 gene

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

      User Feedback
    "" RB1 for disorders           About GeneDecksing

    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]

    • 10/736 ""Novoseek disease relationships for RB1 gene (see all 736 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 100.00 3432 8855974 (14), 11085521 (13), 9326598 (12), 16467168 (12) (see all 100)
    growth arrest 100.00 154 8621439 (4), 9632788 (3), 8183918 (3), 1719463 (3) (see all 100)
    hereditary retinoblastoma 78.93 50 10486322 (4), 9342358 (3), 7603079 (3), 8706167 (2) (see all 38)
    osteosarcoma 72.55 170 9665476 (6), 8781571 (6), 9891508 (5), 14660307 (4) (see all 100)
    retinoblastoma unilateral 43.90 27 9311732 (3), 16225399 (2), 16127685 (2), 15763650 (2) (see all 20)
    sclc 32.32 114 2159370 (6), 19174488 (6), 8058306 (5), 2838909 (5) (see all 51)
    growth suppression 26.39 75 9632788 (3), 8788033 (3), 10951581 (3), 9419977 (2) (see all 60)
    bilateral retinoblastoma 25.16 21 4047082 (2), 16225399 (2), 11668642 (2), 8926652 (1) (see all 18)
    nsclc 24.22 132 10440744 (5), 9468577 (4), 8158700 (4), 7834618 (4) (see all 67)
    germline mutation 22.95 46 8364580 (3), 7795591 (3), 11189328 (3), 8344484 (2) (see all 37)
    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

    Locus Specific Mutation Databases: RB1
    Human Gene Mutation Database: RB1
    Genetic Association Database: RB1
    Human Genome Epidemiology Navigator: RB1 (30 documents)
    Tumor Gene Database: RB1
    Breast Cancer Gene Database: RB1

    Medical News
    for RB1 gene

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

      User Feedback    		   --

    Publications
    for RB1 gene

    (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

      User Feedback    		10/3251 PubMed articles for RB1 gene (see all 3251 ):

    Search for RB1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

      User Feedback
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RB1 gene

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

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

    Other Databases showing RB1 gene

    (According to HUGE)
    About This Section

      User Feedback    		   --

    Specialized Databases showing RB1 gene

    (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

      User Feedback
    NameDescription
    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/sites/GeneTests/lab/gene/RB1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rb1/
    Wikipedia http://en.wikipedia.org/wiki/Retinoblastoma_protein

    Intellectual Property
    for RB1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section

      User Feedback    		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


    Services
    for RB1 gene

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

      User Feedback    		""
    ""
    Products for RB1:
    "" TaqMan ® Gene Expression Assays
    "" TaqMan ® Genotyping Assays
    		 "" Free SNP selection tool

    ""
    "" Millipore Custom Antibody & Bulk Services
    "" Millipore Preclinical / Clinical Development Services
    "" Millipore Immunoassay Services
    "" Millipore Target Screening & Profiling Services

    ""
    "" Predesigned and custom siRNAs for RB1"" Antibodies for RB1
    "" Explore super-pooled esiRNAs"" Proteins for RB1
    "" Lentivirus-delivered shRNAs for RB1"" Browse small molecules at Sigma-Aldrich
    "" "Your Favorite Gene" Pathways"" ELISAs for RB1
    "" Browse iPSC Reprogramming Factors at Sigma-Aldrichfeedback


     ""  ""
    "" Antibodies  "" Primer Pairs  
    "" Cell Culture Products  "" ELISAs  
    "" Flow Cytometry Kits  "" Protease Activity Assays & Reagents  
    "" Cell Selection/Detection Kits & Reagents  "" ELISA/Assay Development Kits & Reagents  
    "" Multiplex/Array Assay Kits & Reagents  "" ELISpot Kits & Development Modules  
    "" Recombinant & Natural Proteins  

    "" Recombinant Proteins (RB1)
    "" Antibodies (RB1)
    "" Chimera RNAi (RB1)
    "" Custom Service for Mouse Mab
    "" Custom Service for Rabbit Pab from Full-length Protein


    """"""""
    "" Antibodies & Assays for RB1  (Rb)

    "" Tagged/untagged cDNA clones
    "" Validated SYBR primer pairs
    "" Purified proteins from HEK293T cells
    "" Western blot validated antibodies
    "" shRNA in GFP-retroviral vector
    "" Custom immunoassay development
    "" Search Tocris compounds for RB1
    "" Regulatory tfbs in RB1 upstream (promoter) region
    "" Search Chromatin IP Primers for RB1
    "" DNA Methylation qPCR Primer Assays for RB1
    "" RT2 qPCR Primer Assay for RB1
    "" GNC Network for RB1
    "" microRNAs that regulate RB1
    """"""""
    "" Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
    "" Novus Tissue Slides
    "" Antibodies for RB1
    "" Proteins for RB1
    "" Antibodies for RB1
    "" Browse Sino Biological Proteins and Antibodies
    "" cDNA Clones for RB1
    "" Antibodies/Proteins Production Services
    "" Rabbit Monoclonal Antibody Platform
    "" Bulk Purchasing
      User Feedback        

    GeneCards Homepage - Last full update: 21 May 2010 - Incremental updates: 24 May 2010 , 20 Jun 2010

    View Random Gene

    Category
    acyl-CoA synthetase family member 3
    GIFtS Group
    The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2010 , Weizmann Institute of Science. All Rights Reserved.
    Rb1 gene at Home site.
    hostname: server4.xennexinc.com db build: 72 index build: 72d solr: 1.4