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

Gene ID: 5925, updated on 16-Feb-2020

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
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

Genomic context

See RB1 in Genome Data Viewer
Location:
13q14.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (48303747..48481890)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (48877883..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 RCC1 and BTB domain containing protein 2 Neighboring gene uncharacterized LOC105370201

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
Bladder cancer, somatic
MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
Compare labs
Osteosarcoma
MedGen: C0029463 OMIM: 259500 GeneReviews: Not available
Compare labs
Retinoblastoma
MedGen: C0035335 OMIM: 180200 GeneReviews: Retinoblastoma
Compare labs
Small cell lung cancer
MedGen: C0149925 OMIM: 182280 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-08)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-08)

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

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
RNA polymerase II activating transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
androgen receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
disordered domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
importin-alpha family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphoprotein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity NAS
Non-traceable Author Statement
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
Ras protein signal transduction IEP
Inferred from Expression Pattern
more info
PubMed 
androgen receptor signaling pathway NAS
Non-traceable Author Statement
more info
PubMed 
aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle arrest TAS
Traceable Author Statement
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
cell morphogenesis involved in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
chromatin remodeling TAS
Traceable Author Statement
more info
PubMed 
digestive tract development IEA
Inferred from Electronic Annotation
more info
 
enucleate erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
glial cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
hepatocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
maintenance of mitotic sister chromatid cohesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cell cycle checkpoint TAS
Traceable Author Statement
more info
PubMed 
myoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of myofibroblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein kinase activity IPI
Inferred from Physical Interaction
more info
PubMed 
negative regulation of protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of tau-protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron maturation IEA
Inferred from Electronic Annotation
more info
 
neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of macrophage differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitotic metaphase/anaphase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
protein localization to chromosome, centromeric region IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell growth IEA
Inferred from Electronic Annotation
more info
 
regulation of centromere complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of cohesin loading IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lipid kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
sister chromatid biorientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
tissue homeostasis IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
PubMed 
Rb-E2F complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rb-E2F complex IDA
Inferred from Direct Assay
more info
PubMed 
Rb-E2F complex TAS
Traceable Author Statement
more info
PubMed 
SWI/SNF complex TAS
Traceable Author Statement
more info
PubMed 
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with cyclin/CDK positive transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
colocalizes_with nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
spindle IEA
Inferred from Electronic Annotation
more info
 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
retinoblastoma-associated protein
Names
GOS563 exon 17 substitution mutation causes premature stop
exon 17 tumor GOS561 substitution mutation causes premature stop
prepro-retinoblastoma-associated protein
protein phosphatase 1, regulatory subunit 130
retinoblastoma 1
retinoblastoma suspectibility protein

NCBI Reference Sequences (RefSeq)

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_000321.2NP_000312.2  retinoblastoma-associated protein

    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
    UniProtKB/TrEMBL
    A0A024RDV3
    Related
    ENSP00000267163.4, ENST00000267163.5
    Conserved Domains (4) summary
    pfam01857
    Location:646763
    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)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    48303747..48481890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535171.2XP_011533473.1  retinoblastoma-associated protein isoform X1

    Conserved Domains (4) summary
    pfam01857
    Location:559676
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:286486
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:681837
    Rb_C; Rb C-terminal domain
    pfam11934
    Location:27138
    DUF3452; Domain of unknown function (DUF3452)
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