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Aliases for RB1 Gene

Aliases for RB1 Gene

  • RB Transcriptional Corepressor 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 130 2 3
  • Prepro-Retinoblastoma-Associated Protein 2 3
  • Retinoblastoma 1 2 3
  • P105-Rb 3 4
  • Pp110 3 4
  • PRb 3 4
  • RB 3 4
  • Exon 17 Tumor GOS561 Substitution Mutation Causes Premature Stop 3
  • GOS563 Exon 17 Substitution Mutation Causes Premature Stop 3
  • Retinoblastoma Suspectibility Protein 3
  • Retinoblastoma-Associated Protein 3
  • Osteosarcoma 2
  • PPP1R130 3
  • OSRC 3

External Ids for RB1 Gene

Previous HGNC Symbols for RB1 Gene

  • OSRC

Previous GeneCards Identifiers for RB1 Gene

  • GC13P046877
  • GC13P042865
  • GC13P047814
  • GC13P046675
  • GC13P047775
  • GC13P048877
  • GC13P029670

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]

CIViC summary for RB1 Gene

GeneCards Summary for RB1 Gene

RB1 (RB Transcriptional Corepressor 1) is a Protein Coding gene. Diseases associated with RB1 include Retinoblastoma and Bladder Cancer. Among its related pathways are Mitotic Prophase and Chronic myeloid leukemia. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and enzyme 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, KMT5B and KMT5C, 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for RB1 Gene

Promoters and enhancers for RB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I048302 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 556.2 +0.5 477 4 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B E2F8 RB1 LINC00441 PPP1R26P1 RCBTB2 GC13M048317
GH13I048567 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +267.3 267254 8 ELF3 SOX13 PKNOX1 FOXA2 SAP130 CEBPG RAD21 RARA ZKSCAN1 TEAD3 LOC105370201 RB1 RCBTB2 FNDC3A LPAR6 LINC00441 CYSLTR2 LINC01077 GC13P048533
GH13I048530 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.3 +228.9 228925 3.7 HDGF MLX ZFP64 ARID4B DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF766 RCBTB2 ENSG00000274929 GC13P048533 GC13P048532 PPP1R26P1 LINC00462 SETDB2 RB1 LPAR6
GH13I048577 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +274.9 274913 2.9 PKNOX1 BMI1 BATF IRF4 YY1 ZNF143 ATF7 ETV6 BCLAF1 IKZF2 LINC00462 RB1 RCBTB2 LPAR6 FNDC3A ITM2B LINC01077 GC13P048533
GH13I048230 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 5.5 -69.3 -69254 7.7 ATF1 FOXA2 SIN3A FEZF1 IRF4 ZNF48 YY1 ZNF207 ZNF143 ATF7 ITM2B MED4 LPAR6 RB1 LINC00441
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RB1 gene promoter:

Genomic Locations for RB1 Gene

Genomic Locations for RB1 Gene
chr13:48,303,747-48,481,986
(GRCh38/hg38)
Size:
178,240 bases
Orientation:
Plus strand
chr13:48,877,883-49,056,122
(GRCh37/hg19)

Genomic View for RB1 Gene

Genes around RB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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, KMT5B, KMT5C, 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. P-TEFB complex interacts with RB1; promotes phosphorylation of RB1 (PubMed:12037672).

    Three dimensional structures from OCA and Proteopedia for RB1 Gene

neXtProt entry for RB1 Gene

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).
  • Ubiquitination at Lys265, isoforms=279, Lys341, Lys847, and Lys900

Other Protein References for RB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RB1 (Rb)
  • Abcam antibodies for RB1

No data available for DME Specific Peptides for RB1 Gene

Domains & Families for RB1 Gene

Gene Families for RB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

P06400

UniProtKB/Swiss-Prot:

RB_HUMAN :
  • The Pocket domain binds to the threonine-phosphorylated domain C, thereby preventing interaction with heterodimeric E2F/DP transcription factor complexes.
  • Belongs to the retinoblastoma protein (RB) family.
Domain:
  • The Pocket domain binds to the threonine-phosphorylated domain C, thereby preventing interaction with heterodimeric E2F/DP transcription factor complexes.
Family:
  • Belongs to the retinoblastoma protein (RB) family.
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, KMT5B and KMT5C, 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.

Phenotypes From GWAS Catalog for RB1 Gene

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 ND --
GO:0003677 DNA binding TAS 3657987
GO:0003700 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

Human Phenotype Ontology for RB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RB1 Gene

MGI Knock Outs for RB1:

Clone Products

  • Addgene plasmids for RB1

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

Localization for RB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RB1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RB1 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
extracellular 2
cytosol 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 ND --
GO:0005634 nucleus NAS 2730637
GO:0005654 nucleoplasm IDA,TAS --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with RB1: view

Pathways & Interactions for RB1 Gene

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

SIGNOR curated interactions for RB1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

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 IEA,TAS --
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS 19149898
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001558 regulation of cell growth IEA --
genes like me logo Genes that share ontologies with RB1: view

Drugs & Compounds for RB1 Gene

(69) Drugs for RB1 Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Insulin Human Approved, Investigational Pharma Target 0
Insulin Pork Approved Pharma Target 0
Topotecan Approved, Investigational Pharma Topoisomerase 1 inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 357
topoisomerase I inhibitors Pharma 1422
Topoisomerase Inhibitors Pharma 5269

(44) Additional Compounds for RB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RB1: view

Transcripts for RB1 Gene

Unigene Clusters for RB1 Gene

Retinoblastoma 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for RB1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RB1 Gene

Protein differential expression in normal tissues from HIPED for RB1 Gene

This gene is overexpressed in Breast (33.8) and Bone marrow mesenchymal stem cell (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RB1 Gene



Protein tissue co-expression partners for RB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RB1 Gene:

RB1

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.

Evidence on tissue expression from TISSUES for RB1 Gene

  • Liver(4.4)
  • Nervous system(3.3)
  • Muscle(2.8)
  • Kidney(2.7)
  • Lung(2.7)
  • Blood(2.5)
  • Skin(2.4)
  • Lymph node(2.3)
  • Heart(2.2)
  • Intestine(2.2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • kidney
Pelvis:
  • pelvis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RB1 Gene

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 33 34
  • 99.86 (n)
cow
(Bos Taurus)
Mammalia RB1 33 34
  • 92.64 (n)
dog
(Canis familiaris)
Mammalia RB1 33 34
  • 90.84 (n)
mouse
(Mus musculus)
Mammalia Rb1 33 16 34
  • 88.09 (n)
rat
(Rattus norvegicus)
Mammalia Rb1 33
  • 87.83 (n)
oppossum
(Monodelphis domestica)
Mammalia RB1 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RB1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves RB1 33 34
  • 73.77 (n)
lizard
(Anolis carolinensis)
Reptilia RB1 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rb1 33
  • 66.4 (n)
zebrafish
(Danio rerio)
Actinopterygii rb1 33 34
  • 58.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rbf 34
  • 20 (a)
ManyToMany
Rbf2 34
  • 18 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lin-35 34
  • 15 (a)
OneToMany
Species where no ortholog for RB1 was found in the sources mined by GeneCards:
  • 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

Variants for RB1 Gene

Sequence variations from dbSNP and Humsavar for RB1 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1003023598 uncertain-significance, Retinoblastoma 48,480,233(+) T/G 3_prime_UTR_variant
rs1012377281 uncertain-significance, Retinoblastoma 48,349,023(+) G/T coding_sequence_variant, missense_variant
rs1014225642 likely-benign, Retinoblastoma 48,303,978(+) A/C/G coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs1039235140 likely-benign, Retinoblastoma 48,360,007(+) T/C intron_variant
rs1044439347 uncertain-significance, Retinoblastoma 48,480,583(+) A/C 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv1648n100 CNV loss 25217958
dgv1649n100 CNV gain 25217958
esv1206120 CNV deletion 17803354
esv1248194 CNV deletion 17803354
esv2675818 CNV deletion 23128226
esv2747378 CNV deletion 23290073
esv2747379 CNV deletion 23290073
esv2747380 CNV deletion 23290073
esv275387 CNV gain+loss 21479260
esv2760280 CNV loss 21179565
esv29390 CNV gain 19812545
esv3550436 CNV deletion 23714750
esv3632025 CNV loss 21293372
nsv1042504 CNV loss 25217958
nsv1049681 CNV gain 25217958
nsv1050786 CNV gain 25217958
nsv1122816 CNV deletion 24896259
nsv1141231 CNV duplication 24896259
nsv1147506 CNV duplication 26484159
nsv832602 CNV loss 17160897
nsv983585 CNV duplication 23825009

Variation tolerance for RB1 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RB1 Gene

Human Gene Mutation Database (HGMD)
RB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RB1 Gene

Disorders for RB1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for RB1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinoblastoma
  • rb1
bladder cancer
  • bladder cancer, somatic
familial retinoblastoma
  • retinoblastoma
small cell cancer of the lung
  • sclc1
osteogenic sarcoma
  • osteosarcoma; osrc
- elite association - COSMIC cancer census association via MalaCards
Search RB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RB_HUMAN
  • 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.
  • 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.
  • 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.

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

Additional Disease Information for RB1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RB1: view

Publications for RB1 Gene

  1. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 2 3 4 58
  2. 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 JK (Oncogene 1992) 3 4 22 58
  3. RB1 methylation by SMYD2 enhances cell cycle progression through an increase of RB1 phosphorylation. (PMID: 22787429) Cho HS … Hamamoto R (Neoplasia (New York, N.Y.) 2012) 3 4 58
  4. NIRF constitutes a nodal point in the cell cycle network and is a candidate tumor suppressor. (PMID: 21952639) Mori T … Kochi H (Cell cycle (Georgetown, Tex.) 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for RB1 Gene

  • Addgene plasmids for RB1