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    RB1 RB transcriptional corepressor 1 [ Homo sapiens (human) ]

    Gene ID: 5925, updated on 5-Feb-2023

    Summary

    Official Symbol
    RB1provided by HGNC
    Official Full Name
    RB transcriptional corepressor 1provided by HGNC
    Primary source
    HGNC:HGNC:9884
    See related
    Ensembl:ENSG00000139687 MIM:614041; AllianceGenome:HGNC:9884
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RB; pRb; OSRC; pp110; p105-Rb; PPP1R130; p110-RB1
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 18.0), thyroid (RPKM 16.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RB1 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (48303751..48481890)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (47524085..47702182)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (48877887..49056026)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene integral membrane protein 2B Neighboring gene RB1 divergent transcript Neighboring gene protein phosphatase 1 regulatory subunit 26 pseudogene 1 Neighboring gene PEST containing nuclear protein pseudogene 5 Neighboring gene uncharacterized LOC112268118 Neighboring gene lysophosphatidic acid receptor 6 Neighboring gene uncharacterized LOC124903173 Neighboring gene RCC1 and BTB domain containing protein 2 Neighboring gene uncharacterized LOC124903174

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RB1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Bone osteosarcoma
    MedGen: C0585442 OMIM: 259500 GeneReviews: Not available
    Compare labs
    Malignant tumor of urinary bladder
    MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
    Compare labs
    Retinoblastoma
    MedGen: C0035335 OMIM: 180200 GeneReviews: Retinoblastoma
    Compare labs
    Small cell lung carcinoma
    MedGen: C0149925 OMIM: 182280 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-03-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-09)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env The mRNA expression levels for alpha-tubulin, TRADD, IFN-gamma R2, GAS1, MADD, NF-kappaB, I-kappa B, 14-3-3 protein, APaf1, PARP, IGF-1 receptor, RB1, Rb2/p130, ARC, and caspase 6 are upregulated in human neuronal cells after treatment with HIV-1 gp120 PubMed
    env The V3 loop of HIV-1 gp120 induces G1 arrest in IL-2-dependent cell cycle progression by reducing cyclin E expression and phosphorylation of retinoblastoma protein (pRb) PubMed
    Nef nef HIV-1 Nef is implicated in the upregulation of Cyclin D1, and subsequently phospho-pRb (Ser780), in infected podocytes and may be involved in the pathogenesis of HIV-associated nephropathy PubMed
    Tat tat Expression of HIV-1 Tat upregulates the abundance of retinoblastoma 1 (RB1) in the nucleoli of Jurkat T-cells PubMed
    tat Tat-expressing EBV-positive B cells show downregulation of Bcl-2, and in serum starvation conditions display the Retinoblastoma (Rb) hyper-phosphorylated form, progress throughout the cell cycle, and retain the ability to grow in small clumps PubMed
    tat HIV-1 Tat induces a G1 arrest in cells of glial origin, leading to a downregulation of cyclin E-Cdk2 kinase activity and phosphorylation of Rb PubMed
    tat Co-expression of the human retinoblastoma gene in HeLa cells with HIV-1 Tat inhibits the Tat mediated transactivation of the HIV-1 LTR promoter PubMed
    tat The under-phosphorylated form of Rb that is prevalent in HIV-1 Tat treated glial cells activates HIV-1 transcription by a mechanism involving the NFkappaB enhancer in the viral LTR promoter, likely through promoting the interaction of Rb with E2F-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell morphogenesis involved in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to insulin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in digestive tract development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in enucleate erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heterochromatin formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of mitotic sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in myoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of apoptotic signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of cell growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of hepatocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of myofibroblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of protein kinase activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in negative regulation of protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of tau-protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of extracellular matrix organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mitotic metaphase/anaphase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of transcription regulatory region DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to chromosome, centromeric region IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of centromere complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of lipid kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sister chromatid biorientation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tissue homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Rb-E2F complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of Rb-E2F complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Rb-E2F complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of Rb-E2F complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of Rb-E2F complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of SWI/SNF complex TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of chromatin lock complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    retinoblastoma-associated protein
    Names
    prepro-retinoblastoma-associated protein
    protein phosphatase 1, regulatory subunit 130
    retinoblastoma 1
    retinoblastoma suspectibility protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009009.1 RefSeqGene

      Range
      5001..183144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_517

    mRNA and Protein(s)

    1. NM_000321.3NP_000312.2  retinoblastoma-associated protein isoform 1

      See identical proteins and their annotated locations for NP_000312.2

      Status: REVIEWED

      Source sequence(s)
      AL392048, BC040540, L41870
      Consensus CDS
      CCDS31973.1
      UniProtKB/Swiss-Prot
      P06400, Q8IZL4
      UniProtKB/TrEMBL
      A0A024RDV3
      Related
      ENSP00000267163.4, ENST00000267163.6
      Conserved Domains (4) summary
      pfam01857
      Location:646765
      RB_B; Retinoblastoma-associated protein B domain
      pfam01858
      Location:373573
      RB_A; Retinoblastoma-associated protein A domain
      pfam08934
      Location:768924
      Rb_C; Rb C-terminal domain
      pfam11934
      Location:114225
      DUF3452; Domain of unknown function (DUF3452)
    2. NM_001407165.1NP_001394094.1  retinoblastoma-associated protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL136960, AL392048
      UniProtKB/TrEMBL
      A0A3B3IS71
    3. NM_001407166.1NP_001394095.1  retinoblastoma-associated protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL392048
    4. NM_001407167.1NP_001394096.1  retinoblastoma-associated protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL392048
      UniProtKB/TrEMBL
      A0A2R8YFL6
    5. NM_001407168.1NP_001394097.1  retinoblastoma-associated protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL136960

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      48303751..48481890
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      47524085..47702182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)