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

Gene ID: 5925, updated on 27-Nov-2024

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
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Genomic context

See RB1 in Genome Data Viewer
Location:
13q14.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (48303751..48481890)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (47524085..47702182)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (48877887..49056026)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5331 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr13:48807853-48808550 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:48809655-48810242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:48815437-48815937 Neighboring gene integral membrane protein 2B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7725 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:48877015-48877740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:48877741-48878464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7726 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7727 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 H3K27ac hESC enhancer GRCh37_chr13:48985733-48986234 Neighboring gene lysophosphatidic acid receptor 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5334 Neighboring gene uncharacterized LOC124903173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7731 Neighboring gene RCC1 and BTB domain containing protein 2 Neighboring gene uncharacterized LOC124903174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5336

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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
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 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
 
acts_upstream_of 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 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
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
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
 
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 
located_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of chromatin lock complex IPI
Inferred from Physical Interaction
more info
PubMed 
part_of cyclin/CDK positive transcription elongation factor complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
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
    A8K5E3, P06400, P78499, Q5VW46, Q8IZL4
    UniProtKB/TrEMBL
    A0AAQ5BH01
    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
    Related
    ENSP00000497193.1, ENST00000650461.1
  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
    Related
    ENSP00000496556.1, ENST00000646097.1
  5. NM_001407168.1NP_001394097.1  retinoblastoma-associated protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL136960

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)