Human Gene RB1 (uc001vcb.1) Description and Page Index
  Description: retinoblastoma 1
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 chr13:47,775,884-47,954,027 Size: 178,144 Total Exon Count: 27 Strand: +
Coding Region
   Position: hg18 chr13:47,776,050-47,952,208 Size: 176,159 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated: 2009-03-03

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:47,775,884-47,954,027)mRNA (may differ from genome)Protein (928 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkGeneTestsH-INVHGNCHPRDHuGE
MGIOMIMPubMedReactomeStanford SOURCETreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: RB_HUMAN
DESCRIPTION: RecName: Full=Retinoblastoma-associated protein; AltName: Full=p105-Rb; AltName: Full=pRb; Short=Rb; AltName: Full=pp110;
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.
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 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.
INTERACTION: P03070:- (xeno); NbExp=2; IntAct=EBI-491274, EBI-617698; P24941:CDK2; NbExp=3; IntAct=EBI-491274, EBI-375096; P30285:Cdk4 (xeno); NbExp=2; IntAct=EBI-491274, EBI-847225; Q155P7:Cenpf (xeno); NbExp=4; IntAct=EBI-491274, EBI-2211248; Q13574-2:DGKZ; NbExp=6; IntAct=EBI-491274, EBI-715527; Q01094:E2F1; NbExp=10; IntAct=EBI-491274, EBI-448924; P06465:E7 (xeno); NbExp=2; IntAct=EBI-491274, EBI-963841; P42685:FRK; NbExp=3; IntAct=EBI-491274, EBI-1383583; Q13547:HDAC1; NbExp=2; IntAct=EBI-491274, EBI-301834; P52927:Hmga2 (xeno); NbExp=5; IntAct=EBI-491274, EBI-912574; Q9R002:Ifi202 (xeno); NbExp=5; IntAct=EBI-491274, EBI-3043899; Q14653:IRF3; NbExp=2; IntAct=EBI-491274, EBI-2650369; Q16539:MAPK14; NbExp=3; IntAct=EBI-491274, EBI-73946; Q00987:MDM2; NbExp=3; IntAct=EBI-491274, EBI-389668; Q14686:NCOA6; NbExp=3; IntAct=EBI-491274, EBI-78670; P07197:NEFM; NbExp=2; IntAct=EBI-491274, EBI-1105035; Q9UQ80:PA2G4; NbExp=4; IntAct=EBI-491274, EBI-924893; P62136:PPP1CA; NbExp=2; IntAct=EBI-491274, EBI-357253; P55345:PRMT2; NbExp=3; IntAct=EBI-491274, EBI-78458; Q00577:PURA; NbExp=6; IntAct=EBI-491274, EBI-1045860; P04049:RAF1; NbExp=3; IntAct=EBI-491274, EBI-365996; O75150:RNF40; NbExp=3; IntAct=EBI-491274, EBI-744408; Q923E4:Sirt1 (xeno); NbExp=4; IntAct=EBI-491274, EBI-1802585; Q3TKT4:Smarca4 (xeno); NbExp=4; IntAct=EBI-491274, EBI-1210244; Q96PU4:UHRF2; NbExp=4; IntAct=EBI-491274, EBI-625304;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in the retina.
DOMAIN: The Pocket domain binds to the threonine-phosphorylated domain C, thereby preventing interaction with heterodimeric E2F/DP transcription factor complexes.
PTM: 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).
PTM: N-terminus is methylated by METTL11A/NTM1 (By similarity). Monomethylated at Lys-860 by SMYD2, promoting interaction with L3MBTL1.
DISEASE: 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.
DISEASE: Defects in RB1 are a cause of susceptibility to 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. They 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.
DISEASE: Defects in RB1 are a cause of osteogenic sarcoma (OSRC) [MIM:259500].
SIMILARITY: Belongs to the retinoblastoma protein (RB) family.
WEB RESOURCE: Name=RB1base; Note=RB1 mutation db; URL="http://rb1-lsdb.d-lohmann.de/";
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RB1ID90.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RB1";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rb1/";
WEB RESOURCE: Name=Wikipedia; Note=Retinoblastoma protein entry; URL="http://en.wikipedia.org/wiki/Retinoblastoma_protein";

-  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

           
Ratios

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.30166-0.502 Picture PostScript Text
3' UTR -408.031819-0.224 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013763 - Cyclin-like
IPR024599 - DUF3452_retinoblatoma-assoc
IPR002720 - RB_A
IPR015652 - Rb_associated
IPR002719 - RB_B
IPR015030 - Rb_C

Pfam Domains:
PF01858 - Retinoblastoma-associated protein A domain
PF08934 - Rb C-terminal domain
PF01857 - Retinoblastoma-associated protein B domain

SCOP Domains:
47954 - Cyclin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1AD6
- X-ray MuPIT

1GH6
- X-ray MuPIT

1GUX
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1H25 - X-ray 1N4M - X-ray MuPIT 1O9K - X-ray
1PJM - X-ray 2AZE - X-ray MuPIT 2QDJ - X-ray MuPIT
2R7G - X-ray MuPIT 3N5U - X-ray MuPIT 3POM - X-ray MuPIT
4ELJ - X-ray MuPIT 4ELL - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P06400
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001047 core promoter binding
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019899 enzyme binding
GO:0019900 kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0042802 identical protein binding
GO:0050681 androgen receptor binding
GO:0051219 phosphoprotein binding
GO:0061676 importin-alpha family protein binding
GO:0097718 disordered domain specific binding

Biological Process:
GO:0000082 G1/S transition of mitotic cell cycle
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001558 regulation of cell growth
GO:0001894 tissue homeostasis
GO:0006325 chromatin organization
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006469 negative regulation of protein kinase activity
GO:0006915 apoptotic process
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0007093 mitotic cell cycle checkpoint
GO:0007265 Ras protein signal transduction
GO:0007346 regulation of mitotic cell cycle
GO:0008285 negative regulation of cell proliferation
GO:0010629 negative regulation of gene expression
GO:0016032 viral process
GO:0030182 neuron differentiation
GO:0030521 androgen receptor signaling pathway
GO:0031134 sister chromatid biorientation
GO:0031175 neuron projection development
GO:0034088 maintenance of mitotic sister chromatid cohesion
GO:0034349 glial cell apoptotic process
GO:0035914 skeletal muscle cell differentiation
GO:0042551 neuron maturation
GO:0043353 enucleate erythrocyte differentiation
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043550 regulation of lipid kinase activity
GO:0045445 myoblast differentiation
GO:0045651 positive regulation of macrophage differentiation
GO:0045786 negative regulation of cell cycle
GO:0045842 positive regulation of mitotic metaphase/anaphase transition
GO:0045879 negative regulation of smoothened signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045930 negative regulation of mitotic cell cycle
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048565 digestive tract development
GO:0048667 cell morphogenesis involved in neuron differentiation
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051146 striated muscle cell differentiation
GO:0051301 cell division
GO:0051402 neuron apoptotic process
GO:0051726 regulation of cell cycle
GO:0071459 protein localization to chromosome, centromeric region
GO:0071466 cellular response to xenobiotic stimulus
GO:0071922 regulation of cohesin loading
GO:0071930 negative regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0090230 regulation of centromere complex assembly
GO:0097284 hepatocyte apoptotic process
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
GO:2000679 positive regulation of transcription regulatory region DNA binding

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005819 spindle
GO:0016514 SWI/SNF complex
GO:0016605 PML body
GO:0035189 Rb-E2F complex
GO:0008024 cyclin/CDK positive transcription elongation factor complex


-  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.
AF043224 - Homo sapiens retinoblastoma susceptibility protein (RB1) mRNA, partial cds.
AK307125 - Homo sapiens cDNA, FLJ97073.
FW573293 - JP 2010529847-A/14: Oligonucleotides for modulation of target RNA activity.
JD526683 - Sequence 507707 from Patent EP1572962.
JD504691 - Sequence 485715 from Patent EP1572962.
JD503614 - Sequence 484638 from Patent EP1572962.
JD482139 - Sequence 463163 from Patent EP1572962.
JD433041 - Sequence 414065 from Patent EP1572962.
JD260576 - Sequence 241600 from Patent EP1572962.
JD258017 - Sequence 239041 from Patent EP1572962.
JD184660 - Sequence 165684 from Patent EP1572962.
JD317737 - Sequence 298761 from Patent EP1572962.
JD043853 - Sequence 24877 from Patent EP1572962.
JD324886 - Sequence 305910 from Patent EP1572962.
MA014029 - JP 2017536338-A/7: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
MA014031 - JP 2017536338-A/9: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
LP986369 - Sequence 7 from Patent EP3201339.
LP986371 - Sequence 9 from Patent EP3201339.

-  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

Reactome (by CSHL, EBI, and GO)

Protein P06400 (Reactome details) participates in the following event(s):

R-HSA-69227 Cyclin D:CDK4/6 phosphorylates RB1 and prevents RB1 binding to E2F1/2/3:DP1/2 complexes
R-HSA-188386 Association of Rb with Cyclin E:Cdk2 complexes
R-HSA-2172666 RB1 binds condensin II
R-HSA-8985460 RUNX2 binds RB1
R-NUL-8985474 Runx2 binds RB1
R-HSA-9018017 RB1 binds and inhibits E2F1/2/3:DP1/2 complexes
R-HSA-113503 PP2A mediated localization of RB1 protein in chromatin
R-HSA-113643 Replication initiation regulation by Rb1/E2F1
R-HSA-188390 Cyclin E:Cdk2-mediated phosphorylation of Rb
R-HSA-8985485 RUNX2 and RB1 bind the BGLAP gene promoter
R-HSA-8985627 RUNX2 and RB1 bind the COL1A1 gene promoter
R-NUL-8985490 Runx2:RB1 binds the BGLAP gene promoter
R-HSA-187948 Phosphorylation of proteins involved in the G1/S transition by Cyclin A:Cdk2
R-HSA-69231 Cyclin D associated events in G1
R-HSA-69202 Cyclin E associated events during G1/S transition
R-HSA-2299718 Condensation of Prophase Chromosomes
R-HSA-8940973 RUNX2 regulates osteoblast differentiation
R-HSA-113501 Inhibition of replication initiation of damaged DNA by RB1/E2F1
R-HSA-69200 Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes
R-HSA-69236 G1 Phase
R-HSA-69206 G1/S Transition
R-HSA-68875 Mitotic Prophase
R-HSA-8941326 RUNX2 regulates bone development
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry
R-HSA-113510 E2F mediated regulation of DNA replication
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-68886 M Phase
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-69242 S Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-212436 Generic Transcription Pathway
R-HSA-1640170 Cell Cycle
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: NM_000321, NP_000312, P06400, P78499, Q5VW46, Q8IZL4, RB_HUMAN
UCSC ID: uc001vcb.1
RefSeq Accession: NM_000321
Protein: P06400 (aka RB_HUMAN)
CCDS: CCDS31973.1

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

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000321.2
exon count: 27CDS single in 3' UTR: no RNA size: 4772
ORF size: 2787CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5705.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes 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.