Human Gene RB1 (uc010act.1) Description and Page Index
  Description: Homo sapiens mRNA for Retinoblastoma-associated protein variant protein.
RefSeq Summary (NM_000321): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC040540.1, SRR1660809.155247.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg18 chr13:47,832,154-47,849,171 Size: 17,018 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg18 chr13:47,837,067-47,849,171 Size: 12,105 Coding Exon Count: 5 

Page IndexSequence and LinksGenetic AssociationsCTDMicroarray ExpressionRNA Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2009-03-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:47,832,154-47,849,171)mRNA (may differ from genome)Protein (145 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblExonPrimerGeneCardsGeneNetwork
GeneTestsH-INVHGNCHuGEMGIPubMed
Stanford SOURCETreefam

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RB1
CDC HuGE Published Literature: RB1
Positive Disease Associations: breast cancer , osteosarcoma , retinoblastoma , retinoblastoma is associated
Related Studies:
  1. breast cancer
    Berns EM et al. 1995, Association between RB-1 gene alterations and factors of favourable prognosis in human breast cancer without effect on survival., International journal of cancer. Journal international du cancer. 1995 Apr;64(2):140-5. [PubMed 7615356]
  2. osteosarcoma
    Issing WJ et al. 1993, An association of the RB gene with osteosarcoma: molecular genetic evaluation of a case of hereditary retinoblastoma., European archives of oto-rhino-laryngology. 1993 ;250(5):277-80. [PubMed 8217129]
  3. retinoblastoma
    Houdayer, C. et al. 2004, Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF., Human mutation. 2004 Feb;23(2):193-202. [PubMed 14722923]
    This study demonstrates the reliability of DHPLC for RB1 analysis, but also illustrates the need for a deletion scanning approach. Finally, considering the benefits to retinoblastoma patients, RB1 testing should be widely implemented in routine healthcare because our study clearly illustrates its feasibility.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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Affymetrix All Exon Microarrays

           
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.07147-0.137 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK291258 - Homo sapiens cDNA FLJ75028 complete cds, highly similar to Homo sapiens retinoblastoma 1 (including osteosarcoma) (RB1), mRNA.
AK300284 - Homo sapiens cDNA FLJ51085 complete cds, highly similar to Retinoblastoma-associated protein.
AK307730 - Homo sapiens cDNA, FLJ97678.
AK299179 - Homo sapiens cDNA FLJ52431 complete cds, highly similar to Retinoblastoma-associated protein.
BC040540 - Homo sapiens retinoblastoma 1, mRNA (cDNA clone MGC:39656 IMAGE:5267622), complete cds.
BC039060 - Homo sapiens retinoblastoma 1, mRNA (cDNA clone MGC:29887 IMAGE:5142020), complete cds.
M28419 - Human retinoblastoma susceptibility protein mRNA, complete cds.
M15400 - Human retinoblastoma susceptibility mRNA, complete cds.
L41870 - Homo sapiens retinoblastoma susceptibility protein (RB1) mRNA and mutations.
AB208788 - Homo sapiens mRNA for Retinoblastoma-associated protein variant protein.
M33647 - Human retinoblastoma associated (RB1) mRNA, complete cds.
AB384726 - Synthetic construct DNA, clone: pF1KB3021, Homo sapiens RB1 gene for retinoblastoma-associated protein, complete cds, without stop codon, in Flexi system.
DQ891564 - Synthetic construct clone IMAGE:100004194; FLH178103.01X; RZPDo839H07126D retinoblastoma 1 (including osteosarcoma) (RB1) gene, encodes complete protein.
DQ894752 - Synthetic construct Homo sapiens clone IMAGE:100009212; FLH178099.01L; RZPDo839H07125D retinoblastoma 1 (including osteosarcoma) (RB1) gene, encodes complete protein.
AY429568 - Homo sapiens RB1v_1 mRNA sequence; alternatively spliced.
KJ897452 - Synthetic construct Homo sapiens clone ccsbBroadEn_06846 RB1 gene, encodes complete protein.
M19701 - Human mutated retinoblastoma susceptibility (RB) mRNA, complete cds.
CU691646 - Synthetic construct Homo sapiens gateway clone IMAGE:100017847 5' read RB1 mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04110 - Cell cycle
hsa05200 - Pathways in cancer
hsa05212 - Pancreatic cancer
hsa05214 - Glioma
hsa05215 - Prostate cancer
hsa05218 - Melanoma
hsa05219 - Bladder cancer
hsa05220 - Chronic myeloid leukemia
hsa05222 - Small cell lung cancer
hsa05223 - Non-small cell lung cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_HivnefPathway - HIV-I Nef: negative effector of Fas and TNF
h_RacCycDPathway - Influence of Ras and Rho proteins on G1 to S Transition
h_arfPathway - Tumor Suppressor Arf Inhibits Ribosomal Biogenesis
h_btg2Pathway - BTG family proteins and cell cycle regulation
h_cellcyclePathway - Cyclins and Cell Cycle Regulation
h_fasPathway - FAS signaling pathway ( CD95 )
h_fbw7Pathway - Cyclin E Destruction Pathway
h_g1Pathway - Cell Cycle: G1/S Check Point
h_hcmvPathway - Human Cytomegalovirus and Map Kinase Pathways
h_p27Pathway - Regulation of p27 Phosphorylation during Cell Cycle Progression
h_p53Pathway - p53 Signaling Pathway
h_pmlPathway - Regulation of transcriptional activity by PML
h_pparaPathway - Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)
h_rbPathway - RB Tumor Suppressor/Checkpoint Signaling in response to DNA damage
h_skp2e2fPathway - E2F1 Destruction Pathway
h_telPathway - Telomeres, Telomerase, Cellular Aging, and Immortality
h_tercPathway - Overview of telomerase RNA component gene hTerc Transcriptional Regulation
h_tidPathway - Chaperones modulate interferon Signaling Pathway
h_tnfr1Pathway - TNFR1 Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: AY429568, uc001vcb.1
UCSC ID: uc010act.1
RefSeq Accession: NM_000321

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RB1:
retinoblastoma (Retinoblastoma)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AY429568.1
exon count: 6CDS single in 3' UTR: no RNA size: 490
ORF size: 435CDS single in intron: no Alignment % ID: 99.18
txCdsPredict score: 787.00frame shift in genome: no % Coverage: 99.59
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.