Rb1 RB transcriptional corepressor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rb1provided by MGI
Official Full Name: RB transcriptional corepressor 1provided by MGI
Primary source: MGI:MGI:97874
See related: Ensembl:ENSMUSG00000022105 AllianceGenome:MGI:97874
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rb; pRb; Rb-1; pp105; p110-RB1
Summary: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and enzyme binding activity. Involved in several processes, including negative regulation of cold-induced thermogenesis; negative regulation of myofibroblast differentiation; and positive regulation of collagen fibril organization. Acts upstream of or within several processes, including negative regulation of cell population proliferation; neuron development; and regulation of gene expression. Located in cytoplasm; nucleus; and spindle. Part of Rb-E2F complex. Is expressed in several structures, including alimentary system; central nervous system; eye; gonad; and hemolymphoid system. Used to study lung small cell carcinoma; osteosarcoma; retinoblastoma; and urinary bladder cancer. Human ortholog(s) of this gene implicated in several diseases, including high grade glioma (multiple); osteosarcoma; prostate cancer; retinoblastoma (multiple); and small cell carcinoma. Orthologous to human RB1 (RB transcriptional corepressor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver E14 (RPKM 8.6), whole brain E14.5 (RPKM 8.3) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 38.73 cM; 14 D3

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (73430298..73563446, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (73192858..73325951, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A role for Retinoblastoma 1 in hindbrain morphogenesis by regulating GBX family.
Title: A role for Retinoblastoma 1 in hindbrain morphogenesis by regulating GBX family.
SKP2 Knockout in Rb1/p53-Deficient Mouse Models of Osteosarcoma Induces Immune Infiltration and Drives a Transcriptional Program with a Favorable Prognosis.
Title: SKP2 Knockout in Rb1/p53-Deficient Mouse Models of Osteosarcoma Induces Immune Infiltration and Drives a Transcriptional Program with a Favorable Prognosis.
miR-4529-3p Promotes the Progression of Retinoblastoma by Inhibiting RB1 Expression and Activating the ERK Signaling Pathway.
Title: miR-4529-3p Promotes the Progression of Retinoblastoma by Inhibiting RB1 Expression and Activating the ERK Signaling Pathway.
Mutant RB1 enhances therapeutic efficacy of PARPis in lung adenocarcinoma by triggering the cGAS/STING pathway.
Title: Mutant RB1 enhances therapeutic efficacy of PARPis in lung adenocarcinoma by triggering the cGAS/STING pathway.
STRA8-RB interaction is required for timely entry of meiosis in mouse female germ cells.
Title: STRA8-RB interaction is required for timely entry of meiosis in mouse female germ cells.
YAP silencing by RB1 mutation is essential for small-cell lung cancer metastasis.
Title: YAP silencing by RB1 mutation is essential for small-cell lung cancer metastasis.
Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling.
Title: Plakophilin 3 facilitates G1/S phase transition and enhances proliferation by capturing RB protein in the cytoplasm and promoting EGFR signaling.
Stem cell-derived exosomes repair ischemic muscle injury by inhibiting the tumor suppressor Rb1-mediated NLRP3 inflammasome pathway.
Title: Stem cell-derived exosomes repair ischemic muscle injury by inhibiting the tumor suppressor Rb1-mediated NLRP3 inflammasome pathway.
P16ink4a overexpression ameliorates cardiac remodeling of mouse following myocardial infarction via CDK4/pRb pathway.
Title: P16ink4a overexpression ameliorates cardiac remodeling of mouse following myocardial infarction via CDK4/pRb pathway.
Hypophosphorylated pRb knock-in mice exhibit hallmarks of aging and vitamin C-preventable diabetes.
Title: Hypophosphorylated pRb knock-in mice exhibit hallmarks of aging and vitamin C-preventable diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (346)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (8) 1 citation
Targeted (31) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC104404P1 (e-PCR)
- UniSTS:270111

NoName (e-PCR)
- UniSTS:548388

PMC139235P1 (e-PCR)
- UniSTS:270886

PMC151548P1 (e-PCR)
- UniSTS:271150

Rb1 (e-PCR), detects polymorphism
- UniSTS:515980

D500 (e-PCR), detects polymorphism
- UniSTS:124836

Rb1 (e-PCR), detects polymorphism
- UniSTS:547528

D14Mit67 (e-PCR), detects polymorphism
- UniSTS:116424

M26391 (e-PCR)
- UniSTS:180697

PMC309665P1 (e-PCR)
- UniSTS:272609

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables disordered domain specific binding	IEA Inferred from Electronic Annotation more info
enables disordered domain specific binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables importin-alpha family protein binding	IEA Inferred from Electronic Annotation more info
enables importin-alpha family protein binding	ISO Inferred from Sequence Orthology more info
enables kinase binding	ISO Inferred from Sequence Orthology more info
enables kinase binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info
enables phosphoprotein binding	IEA Inferred from Electronic Annotation more info
enables phosphoprotein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in aortic valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell morphogenesis involved in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell morphogenesis involved in neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to insulin stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondrocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in chromosome organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within enucleate erythrocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of glial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hepatocyte apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterochromatin formation	ISO Inferred from Sequence Orthology more info
involved_in maintenance of mitotic sister chromatid cohesion	IEA Inferred from Electronic Annotation more info
involved_in maintenance of mitotic sister chromatid cohesion	ISO Inferred from Sequence Orthology more info
involved_in myoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in myoblast differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cold-induced thermogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of gene expression	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within negative regulation of glial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of hepatocyte apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of hepatocyte apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of mitotic cell cycle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of myofibroblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of macrophage differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of mitotic metaphase/anaphase transition	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitotic metaphase/anaphase transition	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription regulatory region DNA binding	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein localization to chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromosome, centromeric region	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of regulation of G1/S transition of mitotic cell cycle	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell growth	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of lipid kinase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of lipid kinase activity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in sister chromatid biorientation	IEA Inferred from Electronic Annotation more info
involved_in sister chromatid biorientation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within striated muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within tissue homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in PML body	ISO Inferred from Sequence Orthology more info
located_in PML body	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
part_of Rb-E2F complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
part_of chromatin lock complex	ISO Inferred from Sequence Orthology more info
part_of cyclin/CDK positive transcription elongation factor complex	ISO Inferred from Sequence Orthology more info
part_of cyclin/CDK positive transcription elongation factor complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: retinoblastoma-associated protein

Names: retinoblastoma 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_009029.3 → NP_033055.2 retinoblastoma-associated protein

See identical proteins and their annotated locations for NP_033055.2

Status: VALIDATED

Source sequence(s)

AK141028, BC096525

Consensus CDS

CCDS27267.1

UniProtKB/Swiss-Prot

P13405, Q4VA62

UniProtKB/TrEMBL

Q3URY9

Related

ENSMUSP00000022701.7, ENSMUST00000022701.7

Conserved Domains (4) summary

pfam01857
Location:639 → 758

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:367 → 567

RB_A; Retinoblastoma-associated protein A domain

pfam08934
Location:761 → 917

Rb_C; Rb C-terminal domain

pfam11934
Location:112 → 219

DUF3452; Domain of unknown function (DUF3452)