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Aliases for RB1 Gene

Aliases for RB1 Gene

  • Retinoblastoma 1 2 3
  • Prepro-Retinoblastoma-Associated Protein 2 3
  • P105-Rb 3 4
  • Pp110 3 4
  • PRb 3 4
  • RB 3 4
  • Protein Phosphatase 1, Regulatory Subunit 130 3
  • Retinoblastoma Suspectibility Protein 3
  • Retinoblastoma-Associated Protein 3
  • Regulatory Subunit 130 2
  • Protein Phosphatase 1 2
  • Osteosarcoma 2
  • PPP1R130 3
  • OSRC 3

External Ids for RB1 Gene

Previous Symbols for RB1 Gene

  • OSRC

Summaries for RB1 Gene

Entrez Gene Summary for RB1 Gene

  • The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]

GeneCards Summary for RB1 Gene

RB1 (Retinoblastoma 1) is a Protein Coding gene. Diseases associated with RB1 include familial retinoblastoma and unilateral retinoblastoma. Among its related pathways are Glioma and Pathways in cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription factor binding. An important paralog of this gene is RBL2.

UniProtKB/Swiss-Prot for RB1 Gene

  • 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 RB1s activity.

Gene Wiki entry for RB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RB1 Gene

Genomics for RB1 Gene

Genomic Location for RB1 Gene

Start:
48,303,747 bp from pter
End:
48,481,986 bp from pter
Size:
178,240 bases
Orientation:
Plus strand

Genomic View for RB1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RB1 Gene

Regulatory Elements for RB1 Gene

Proteins for RB1 Gene

  • Protein details for RB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06400-RB_HUMAN
    Recommended name:
    Retinoblastoma-associated protein
    Protein Accession:
    P06400
    Secondary Accessions:
    • A8K5E3
    • P78499
    • Q5VW46
    • Q8IZL4

    Protein attributes for RB1 Gene

    Size:
    928 amino acids
    Molecular mass:
    106159 Da
    Quaternary structure:
    • Interacts with ATAD5. Interacts with PRMT2, CDK1 and CDK2 (By similarity). The hypophosphorylated form interacts with and sequesters the E2F1 transcription factor. Interacts with heterodimeric E2F/DP transcription factor complexes containing TFDP1 and either E2F1, E2F3, E2F4 or E2F5, or TFDP2 and E2F4. The unphosphorylated form interacts with EID1, ARID3B, KDM5A, SUV39H1, MJD2A/JHDM3A and THOC1. Interacts with the N-terminal domain of TAF1. Interacts with SNW1, AATF, DNMT1, LIN9, LMNA, SUV420H1, SUV420H2, PELP1, UHRF2 and TMPO-alpha. May interact with NDC80. Interacts with GRIP1 and UBR4. Interacts with ARID4A and KDM5B. Interacts with E4F1 and LIMD1. Interacts with SMARCA4/BRG1 AND HDAC1 (By similarity). Interacts with PSMA3 and USP4. Interacts (when methylated at Lys-860) with L3MBTL1. Interacts with CHEK2; phosphorylates RB1. Interacts with CEBPA (PubMed:15107404). Interacts with adenovirus E1A protein, HPV E7 protein and SV40 large T antigen. Interacts with human cytomegalovirus/HHV-5 protein UL123.

    Three dimensional structures from OCA and Proteopedia for RB1 Gene

neXtProt entry for RB1 Gene

Proteomics data for RB1 Gene at MOPED

Post-translational modifications for RB1 Gene

  • Acetylation at Lys-873 and Lys-874 regulates subcellular localization, at least during keratinocytes differentiation.
  • N-terminus is methylated by METTL11A/NTM1 (By similarity). Monomethylation at Lys-810 by SMYD2 enhances phosphorylation at Ser-807 and Ser-811, and promotes cell cycle progression. Monomethylation at Lys-860 by SMYD2 promotes interaction with L3MBTL1.
  • 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).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys265, Lys279, Lys341, Lys810, Lys847, and Lys900

Other Protein References for RB1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for RB1 Gene

Domains for RB1 Gene

Gene Families for RB1 Gene

HGNC:

Protein Domains for RB1 Gene

UniProtKB/Swiss-Prot:

RB_HUMAN
Domain:
  • The Pocket domain binds to the threonine-phosphorylated domain C, thereby preventing interaction with heterodimeric E2F/DP transcription factor complexes:
    • P06400
Family:
  • Belongs to the retinoblastoma protein (RB) family.:
    • P06400
genes like me logo Genes that share domains with RB1: view

Function for RB1 Gene

Molecular function for RB1 Gene

GENATLAS Biochemistry: 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)
UniProtKB/Swiss-Prot 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 RB1s activity.

Gene Ontology (GO) - Molecular Function for RB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001047 core promoter binding IDA 15735762
GO:0001102 RNA polymerase II activating transcription factor binding IEA --
GO:0003674 molecular_function --
GO:0003677 DNA binding TAS 3657987
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 3657987
genes like me logo Genes that share ontologies with RB1: view
genes like me logo Genes that share phenotypes with RB1: view

Animal Models for RB1 Gene

MGI Knock Outs for RB1:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RB1 Gene

Localization for RB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RB1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RB1 Gene COMPARTMENTS Subcellular localization image for RB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 1
extracellular 1
mitochondrion 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin TAS 3657987
GO:0005575 cellular_component --
GO:0005634 nucleus IDA 17540172
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex --
genes like me logo Genes that share ontologies with RB1: view

Pathways for RB1 Gene

genes like me logo Genes that share pathways with RB1: view

Gene Ontology (GO) - Biological Process for RB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000075 cell cycle checkpoint TAS 10825186
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS 19149898
GO:0000122 negative regulation of transcription from RNA polymerase II promoter --
GO:0000278 mitotic cell cycle TAS --
genes like me logo Genes that share ontologies with RB1: view

Compounds for RB1 Gene

(2) Drugbank Compounds for RB1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Insulin Regular
11061-68-0 target
Insulin, porcine
9004-14-2 target

(108) Novoseek inferred chemical compound relationships for RB1 Gene

Compound -log(P) Hits PubMed IDs
hpvs 60.9 4
8-methylguanine 55.8 1
olomoucine 47.7 3
purvalanol a 44.6 1
flavopiridol 40.9 3
genes like me logo Genes that share compounds with RB1: view

Transcripts for RB1 Gene

Unigene Clusters for RB1 Gene

Retinoblastoma 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RB1 Gene

No ASD Table

Relevant External Links for RB1 Gene

GeneLoc Exon Structure for
RB1
ECgene alternative splicing isoforms for
RB1

Expression for RB1 Gene

mRNA expression in normal human tissues for RB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RB1 Gene

SOURCE GeneReport for Unigene cluster for RB1 Gene Hs.408528

mRNA Expression by UniProt/SwissProt for RB1 Gene

P06400-RB_HUMAN
Tissue specificity: Expressed in the retina
genes like me logo Genes that share expressions with RB1: view

Orthologs for RB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RB1 36
  • 99.86 (n)
  • 99.89 (a)
RB1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RB1 36
  • 92.64 (n)
  • 93.43 (a)
RB1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RB1 36
  • 90.84 (n)
  • 91.34 (a)
RB1 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rb1 36
  • 88.09 (n)
  • 90.23 (a)
Rb1 16
Rb1 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RB1 37
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RB1 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rb1 36
  • 87.83 (n)
  • 89.46 (a)
chicken
(Gallus gallus)
Aves RB1 36
  • 73.77 (n)
  • 75.22 (a)
RB1 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RB1 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rb1 36
  • 66.4 (n)
  • 61.39 (a)
zebrafish
(Danio rerio)
Actinopterygii rb1 36
  • 58.97 (n)
  • 57.46 (a)
rb1 37
  • 52 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rbf 37
  • 20 (a)
ManyToMany
Rbf2 37
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-35 37
  • 15 (a)
OneToMany
Species with no ortholog for RB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RB1 Gene

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

Paralogs for RB1 Gene

Paralogs for RB1 Gene

genes like me logo Genes that share paralogs with RB1: view

Variants for RB1 Gene

Sequence variations from dbSNP and Humsavar for RB1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs171990 -- 48,357,107(+) acacc(A/G)tatcc intron-variant
rs174854 -- 48,460,488(+) TATCA(C/T)TGGCT intron-variant
rs174855 -- 48,467,870(+) taaat(A/G)tttat intron-variant
rs174856 -- 48,469,104(+) acaca(A/G)ccaaa intron-variant
rs174857 -- 48,344,666(+) TAAGT(A/G)AACTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RB1 Gene

Variant ID Type Subtype PubMed ID
esv2675818 CNV Deletion 23128226
esv275387 CNV Gain+Loss 21479260
esv29390 CNV Gain 19812545
esv2747378 CNV Deletion 23290073
esv1206120 CNV Deletion 17803354
esv1248194 CNV Deletion 17803354
esv2747379 CNV Deletion 23290073
esv2747380 CNV Deletion 23290073
nsv832602 CNV Loss 17160897

Relevant External Links for RB1 Gene

HapMap Linkage Disequilibrium report
RB1
Human Gene Mutation Database (HGMD)
RB1
Locus Specific Mutation Databases (LSDB)
RB1

Disorders for RB1 Gene

(4) OMIM Diseases for RB1 Gene (614041)

UniProtKB/Swiss-Prot

RB_HUMAN
  • Childhood cancer retinoblastoma (RB) [MIM:180200]: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20000 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. {ECO:0000269 PubMed:10671068, ECO:0000269 PubMed:11524739, ECO:0000269 PubMed:1352883, ECO:0000269 PubMed:2594029, ECO:0000269 PubMed:7704558, ECO:0000269 PubMed:7795591, ECO:0000269 PubMed:7927327, ECO:0000269 PubMed:8346255, ECO:0000269 PubMed:8605116, ECO:0000269 PubMed:8776589, ECO:0000269 PubMed:9140452, ECO:0000269 PubMed:9311732, ECO:0000269 PubMed:9973307}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bladder cancer (BLC) [MIM:109800]: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Osteogenic sarcoma (OSRC) [MIM:259500]: A sarcoma originating in bone-forming cells, affecting the ends of long bones. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for RB1 Gene

(96) Novoseek inferred disease relationships for RB1 Gene

Disease -log(P) Hits PubMed IDs
retinoblastoma 97.2 240
hereditary retinoblastoma 89.8 34
tumors 80 325
allelic loss 76.7 48
sporadic retinoblastoma 74.3 9

Genatlas disease for RB1 Gene

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

Relevant External Links for RB1

GeneTests
RB1
GeneReviews
RB1
Genetic Association Database (GAD)
RB1
Human Genome Epidemiology (HuGE) Navigator
RB1
Tumor Gene Database (TGDB):
RB1
genes like me logo Genes that share disorders with RB1: view

Publications for RB1 Gene

  1. Detection of heterozygous mutations in the RB1 gene in retinoblastoma patients using single-strand conformation polymorphism analysis and polymerase chain reaction sequencing. (PMID: 1352398) Hogg A. … Cowell J.K. (Oncogene 1992) 3 4 23
  2. Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. (PMID: 7704558) Cowell J.K. … Bia B. (Eur. J. Hum. Genet. 1994) 3 4 23
  3. Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. (PMID: 7795591) Blanquet V. … Besmond C. (Hum. Mol. Genet. 1995) 3 4 23
  4. Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. (PMID: 7935440) Kim Y.W. … Kaye F.J. (Mol. Cell. Biol. 1994) 3 4 23
  5. Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. (PMID: 8605116) Liu Z. … Cowell J.K. (Genes Chromosomes Cancer 1995) 3 4 23

Products for RB1 Gene

  • Addgene plasmids for RB1

Sources for RB1 Gene

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