RB1 Gene
protein-coding GIFtS : 74 GCID: GC13 P048877
retinoblastoma 1 osteosarcoma )OSRC )
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Aliasesfor RB1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Retinoblastoma 1 1 2 Pp1101 OSRC1 2 Osteosarcoma1 RB1 2 Retinoblastoma Suspectibility Protein2 P105-Rb1 Retinoblastoma-Associated Protein2 PRb1 Rb3
Export aliases for RB1 gene to outside databases Previous GC identifers: GC13P046877 GC13P042865 GC13P047814 GC13P046675 GC13P047775 GC13P029670
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Summariesfor RB1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section 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, Jul 2008) UniProtKB/Swiss-Prot: RB_HUMAN, P06400 Function : Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G0-G1 transition whenphosphorylated 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 Gene Wiki entry for RB1 (Retinoblastoma protein)
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Genomic Viewsfor RB1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000013.10 NC_018924.1 NT_024524.14 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the RB1 gene promoter:MZF-1 PPAR-gamma1 SRY GATA-6 ATF-2 PPAR-gamma2 AP-2gamma E47 Other transcription factors Search SABiosciences Chromatin IP Primers for RB1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
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
Entrez Gene Ensembl GeneLoc information about 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
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Proteinsfor RB1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: RB_HUMAN, P06400 See
protein sequence )Recommended Name: Size : 928 amino acids; 106159 DaSubunit : Interacts with ATAD5. Interacts with PRMT2, CDK1 and CDK2 (By similarity). The hypophosphorylated forminteracts 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 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
Subcellular location : Nucleus6/14 PDB 3D structures from (see all 14 ):1AD6 (3D) 1GH6 (3D) 1GUX (3D) 1H25 (3D) 1N4M (3D) 1O9K (3D) Secondary accessions : A8K5E3 P78499 Q5VW46 Q8IZL4Explore the universe of human proteins at neXtProt for RB1: NX_P06400 Post-translational modifications:
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)1
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 L3MBTL11
Acetylation at Lys-873 and Lys-874 regulates subcellular localization, at least during keratinocytes differentiation1 View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P06400 RB1 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_000312.2 ENSEMBL proteins: ENSP00000434702 ENSP00000267163 Reactome Protein details: P06400 Human Recombinant Protein Products: Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9 ): About this table
About GeneDecksing RB1 Antibody Products: Assay Products for RB1:
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Protein
Domains /for RB1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry P06400 ProtoNet protein and cluster: P06400
2 Blocks protein families : IPB002720 IPB006670 UniProtKB/Swiss-Prot: RB_HUMAN, P06400 Domain : The Pocket domain binds to the threonine-phosphorylated domain C, thereby preventing interaction withheterodimeric E2F/DP transcription factor complexes Similarity : Belongs to the retinoblastoma protein (RB) family
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Functionfor RB1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: RB_HUMAN, P06400 Function : Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G0-G1 transition whenphosphorylated 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
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) Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 2 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 4 ): RB1 (NM_001112 ) Sino Biological Human cDNA Clone for RB1 DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RB1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RB1
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RB1
Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13 ): About this table
About GeneDecksing Animal Models: Rb1 tm2Mlh Rb1 tm1Brd Rb1 tm1Mlh Rb1 tm1.2Gfk Rb1 tm3.1Tyj Rb1 tm2.1Jyjw Rb1 tm2Tyj Rb1 tm1Tyj Rb1 tm2Htr Rb1 tm2.1Brn 15/27 MGI mutant phenotypes (inferred from 21 alleles(MGI details for Rb1) (see all 27 ):About GeneDecksing
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Pathways & Interactionsfor RB1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways - 5/50 super-pathways (see all 50 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Ubiquitinated Orc1 is degraded by the proteasome 2 Cyclins and Cell Cycle Regulation 3 Glioma 4 Cell cycle_Cell cycle (generic schema) 5 Cell cycle
Pathway sources See GeneCards unified pathways Show all pathways 4 5/21 (see all 21 )1 4 5/21 (see all 21 ) 5/18 (see all 18 )5/10 (Kegg details for RB1) (see all 10 ):About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RB1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/340 Interacting proteins for RB1 (P06400 1 , 2 , 3 ENSP00000267163 4 via UniProtKB, MINT, STRING , and/or I2D (see all 340 )About this table Gene Ontology (GO): 5/51 biological process terms (GO ID links to tree view) (see all 51 ): About this table
About GeneDecksing
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Drugs & Compoundsfor RB1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for RB1 2 DrugBank Compounds for RB1 About this table 10/108 Novoseek chemical compound relationships for RB1 gene (see all 108 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
hpvs
60.9
6
16908054 (1), 15657429 (1), 9188631 (1), 1648361 (1)
8-methylguanine
55.8
1
17150691 (1)
olomoucine
47.7
3
17006629 (1), 10228011 (1), 10542199 (1)
purvalanol a
44.6
1
17006629 (1)
flavopiridol
40.9
4
15569374 (2), 15868376 (1)
roscovitine
40.8
4
15231455 (1), 11295463 (1), 20372802 (1), 10542199 (1)
7-hydroxystaurosporine
35.1
4
8960146 (1)
sb 203580
32.5
2
11787050 (1), 10075927 (1)
retinoic acid
29.2
53
9158000 (6), 8741214 (6), 7979182 (4), 10706449 (3) (see all 22 )
ly294002
28.7
2
14559232 (1), 11787050 (1)
RB1 / RB
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Transcriptsfor RB1 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for RB1 gene: NM_000321.2 Unigene Cluster for RB1:
Retinoblastoma 1 Hs.408528 [show with all ESTs ] Unigene Representative Sequence: L41870 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000525036 ENST00000467505 ENST00000267163 (uc010acs.1 uc001vcb.3 uc010act.1 )ENST00000480491 ENST00000531171 ENST00000484879 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 2 )human mouse rat OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 4 ): RB1 (NM_001112 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RB1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RB1
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.65284981 DT.75188041 DT.40198388 24/198 AceView cDNA sequences (see all 198 ):
BM264009 BU507703 BX457212 AW951604 M33647 L41870 AA361277 AW503514 CB215593 AA594282 AL599105 AI359426 W01191 CA413166 BM450031 AI745643 CB143909 N62929 BX282736 AA767255 BM561083 BF439572 AL597811 AI745644 GeneLoc Exon Structure
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Expression for RB1 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section RB1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AATATCATAC
About this image RB1 expression in embryonic tissues and stem cells About this table See RB1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RB1 SOURCE GeneReport for Unigene cluster: Hs.408528 UniProtKB/Swiss-Prot: RB_HUMAN, P06400 Tissue specificity : Expressed in the retinaSABiosciences Expression via Pathway-Focused PCR Arrays including RB1 (see all 22 ): Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RB1
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Orthologsfor RB1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for RB1 gene from 6/19 species (see all 19 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves RB11
retinoblastoma 1
73.33(n) 74.4(a)
386582 NM_204419.1 NP_989750.1
lizard Reptilia RB16
--
66(a)
1 ↔ 1
1(136867520-136930065)
tropical clawed frog Amphibia AL972632.22
--
74.11(n)
AL972632.2
zebrafish Actinopterygii rb11
retinoblastoma 1
58.5(n) 56.95(a)
777733 NM_001077780.1 NP_001071248.1
thale cress eudicotyledons ATRBR16
Retinoblastoma-related protein 1
17(a)
1 → many
3(3913412-3919170)
rice Liliopsida ----
retinoblastoma-related protein-like, putative, exp... retinoblastoma-related protein-like, putative, exp... 19(a) 18(a)
many ↔ manymany ↔ many
11(18967142-18973591) 8(26919480-26925624)
ENSEMBL Gene Tree for RB1 (if available)TreeFam Gene Tree for RB1 (if available)
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Paralogsfor RB1 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for RB1 gene RBL2 2 RBL1 2 2 SIMAP similar genes for RB1 using alignment to 18 protein entries: RB_HUMAN (see all proteins ):DKFZp781K2028 RBL2 About GeneDecksing
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Genomic Variantsfor RB1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 13 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for RB1 (48877883 - 49056122 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for RB1 1 CNV 71711 2 Indels 25262 25261 Human Gene Mutation Database (HGMD) : RB1 Locus Specific Mutation Databases (LSDB): RB1 5/12 SABiosciences Cancer Mutation PCR Assays for RB1 (see all 12 ):
5 SABiosciences Cancer Mutation PCR Arrays containing RB1 :
3 SABiosciences qBiomarker Copy Number PCR Arrays containing RB1 :
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor RB1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 614041
OMIM disorders : --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 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 Defects in RB1 are a cause of osteogenic sarcoma (OSRC) [MIM:259500] 20/206 (see all 206 ): About MalaCards retinoblastoma li-fraumeni syndrome growth hormone secreting pituitary adenoma mhc class ii deficiency osteosarcoma marginal zone b-cell lymphoma sarcoma b-cell non-hodgkin lymphoma diffuse large b-cell lymphoma human t-cell leukemia virus type 1 non-hodgkin lymphoma b-cell lymphomas cervical intraepithelial neoplasia gliomatosis cerebri williams-beuren syndrome central nervous system lymphoma fibrous histiocytoma trilateral retinoblastoma non-small cell lung carcinoma laryngeal squamous cell carcinoma 3 diseases from the University of Copenhagen DISEASES database for RB1 :Retinoblastoma Breast cancer Carcinoma 10/96 Novoseek disease relationships for RB1 gene (see all 96 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
retinoblastoma
97.2
1231
15231717 (6), 16672052 (6), 14726655 (5), 16127685 (5) (see all 99 )
hereditary retinoblastoma
89.8
45
10486322 (4), 7603079 (3), 8217129 (2), 8651278 (2) (see all 26 )
tumors
80
1484
2167152 (8), 8834174 (6), 10414500 (6), 15161658 (6) (see all 99 )
allelic loss
76.7
56
8467510 (3), 8909313 (3), 16402033 (2), 9665476 (2) (see all 39 )
sporadic retinoblastoma
74.3
17
12402348 (3), 8504130 (1), 15231717 (1), 14660307 (1) (see all 7 )
osteosarcoma
69
131
8781571 (6), 9665476 (5), 9891508 (5), 14660307 (4) (see all 61 )
cancer
67.5
263
8344484 (4), 9218727 (3), 8074836 (3), 8117619 (3) (see all 99 )
allelic imbalance
62.7
15
12940460 (2), 16570290 (2), 7947078 (1), 9031117 (1) (see all 11 )
eye cancer
60.3
2
17437278 (1), 18073428 (1)
carcinoma
59.7
125
15154011 (4), 18036045 (3), 11956626 (3), 15731778 (3) (see all 76 )
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 Genetic Association Database (GAD): RB1 Human Genome Epidemiology (HuGE) Navigator: RB1 (35 documents) Tumor Gene Database (TGDB) : RB1 Export disorders for RB1 gene to outside databases
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Publicationsfor RB1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for RB1 gene, integrated from 9 sources (see all 2217 ):(articles sorted by number of sources associating them with RB1) Utopia : connect your pdf to the dynamic
The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823) 1 , 2 , 3(2004) Differential specificity for binding of retinoblastoma binding protein 2 to RB, p107, and TATA-binding protein. (PubMed id 7935440) 1 , 2 , 9(1994) MDM2 promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma protein. (PubMed id 16337594) 1 , 2 , 9(2005) Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. (PubMed id 14722923) 1 , 4, 9(2004) Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect. (PubMed id 15763650) 1 , 4, 9(2005) Cdk phosphorylation triggers sequential intramolecular interactions that progressively block Rb functions as cells move through G1. (PubMed id 10499802) 1 , 2 , 9(1999) Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. (PubMed id 7795591) 1 , 2 , 9(1995) Crystal structure of the retinoblastoma protein N domain provides insight into tumor suppression, ligand interaction, and holoprotein architecture. (PubMed id 17996702) 1 , 2 , 9(2007) Genotype phenotype correlations in Israeli colorectal cancer patients. (PubMed id 15523694) 1 , 4, 9(2005) Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma. (PubMed id 10671068) 1 , 2 , 9(1998)
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miRBase ,
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Specialized Databases showing RB1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for RB1 Pharmacogenomics, SNPs, Pathways ATLAS Chromosomes in Cancer entry for RB1Genetics and Cytogenetics in Oncology and Haematology RB1base http://rb1-lsdb.d-lohmann.de/ GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RB1 NIEHS-SNPs http://egp.gs.washington.edu/data/rb1/ Wikipedia http://en.wikipedia.org/wiki/Retinoblastoma_protein
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About This Section Patent Information for RB1 gene: RB1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor RB1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for RB1 OriGene shRNA RFP for RB1 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for RB1 OriGene 3'-UTR Clone for RB1 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for RB1 OriGene Custom Protein Services for RB1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RB1 QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RB1
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