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RB1 retinoblastoma 1 [ Homo sapiens (human) ]

Gene ID: 5925, updated on 19-Oct-2014
Official Symbol
RB1provided by HGNC
Official Full Name
retinoblastoma 1provided by HGNC
Primary source
HGNC:HGNC:9884
Locus tag
RP11-174I10.1
See related
Ensembl:ENSG00000139687; HPRD:01574; MIM:614041; Vega:OTTHUMG00000016900
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
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]
Location:
13q14.2
Exon count:
27
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 long intergenic non-protein coding RNA 441 Neighboring gene protein phosphatase 1, regulatory subunit 26 pseudogene 1 Neighboring gene PEST containing nuclear protein pseudogene 5 Neighboring gene uncharacterized LOC101929434 Neighboring gene lysophosphatidic acid receptor 6 Neighboring gene regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 Neighboring gene long intergenic non-protein coding RNA 462

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Malignant tumor of urinary bladder
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 cancer of the lung
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

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

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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
RNA polymerase II activating transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
androgen receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
core promoter binding IDA
Inferred from Direct Assay
more info
PubMed 
identical 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 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
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 
cell cycle arrest TAS
Traceable Author Statement
more info
PubMed 
cell cycle checkpoint TAS
Traceable Author Statement
more info
PubMed 
cell morphogenesis involved in neuron differentiation 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
 
mitotic cell cycle TAS
Traceable Author Statement
more info
 
mitotic cell cycle checkpoint TAS
Traceable Author Statement
more info
PubMed 
myoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase activity IPI
Inferred from Physical Interaction
more info
PubMed 
negative regulation of sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
negative regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter during mitosis TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription involved in G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
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 maturation IEA
Inferred from Electronic Annotation
more info
 
neuron projection development IEA
Inferred from Electronic Annotation
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
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
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
 
regulation of centromere complex assembly TAS
Traceable Author Statement
more info
 
regulation of cohesin localization to chromatin IMP
Inferred from Mutant Phenotype
more info
 
regulation of lipid kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 
regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
sister chromatid biorientation IMP
Inferred from Mutant Phenotype
more info
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated 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 TAS
Traceable Author Statement
more info
PubMed 
SWI/SNF complex TAS
Traceable Author Statement
more info
PubMed 
chromatin TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
spindle IEA
Inferred from Electronic Annotation
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Preferred Names
retinoblastoma-associated protein
Names
retinoblastoma-associated protein
retinoblastoma suspectibility protein
prepro-retinoblastoma-associated protein
protein phosphatase 1, regulatory subunit 130

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 

    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 proteins identical to NP_000312.2

    Status: REVIEWED

    Source sequence(s)
    AL392048, BC040540, L41870
    Consensus CDS
    CCDS31973.1
    UniProtKB/TrEMBL
    A0A024RDV3
    UniProtKB/Swiss-Prot
    P06400
    Related
    ENSP00000267163, OTTHUMP00000018397, ENST00000267163, OTTHUMT00000044884
    Conserved Domains (4) summary
    pfam08934
    Location:768927
    Rb_C; Rb C-terminal domain
    cd00043
    Location:655725
    CYCLIN; Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB ...
    pfam01858
    Location:373573
    RB_A; Retinoblastoma-associated protein A domain
    pfam11934
    Location:115228
    DUF3452; Domain of unknown function (DUF3452)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

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

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    29670144..29848118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    48845597..49023603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)