Rbl1 RB transcriptional corepressor like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rbl1provided by MGI
Official Full Name: RB transcriptional corepressor like 1provided by MGI
Primary source: MGI:MGI:103300
See related: Ensembl:ENSMUSG00000027641 AllianceGenome:MGI:103300
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: PRB1; p107
Summary: Predicted to enable RNA polymerase II transcription regulatory region sequence-specific DNA binding activity and promoter-specific chromatin binding activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including genitourinary system; hemolymphoid system gland; palatal shelf; retina; and telencephalon. Used to study retinoblastoma and urinary bladder cancer. Orthologous to human RBL1 (RB transcriptional corepressor like 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in liver E14 (RPKM 8.8), CNS E11.5 (RPKM 8.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H1; 2 78.05 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (156987813..157046454, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (157145893..157204534, complement)

Chromosome 2 - NC_000068.8 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?

p107 mediated mitochondrial function controls muscle stem cell proliferative fates.
Title: p107 mediated mitochondrial function controls muscle stem cell proliferative fates.
Rb1/Rbl1/Vhl loss induces mouse subretinal angiomatous proliferation and hemangioblastoma.
Title: Rb1/Rbl1/Vhl loss induces mouse subretinal angiomatous proliferation and hemangioblastoma.
p107 is relevant for the metabolic activity of both brown and white adipocytes under conditions of leanness and obesity, and its deficiency is associated with increased thermogenesis and browning of WAT and hence stimulation of energy expenditure.
Title: p107 Deficiency Increases Energy Expenditure by Inducing Brown-Fat Thermogenesis and Browning of White Adipose Tissue.
Results show that ablation of the three members of the retinoblastoma family (RB1, p107 and p130) which targets a variety of adult lung epithelial cells, leads to spontaneous velopment of tumorlets, benign precancerous neuroendocrine (NE) lesions that do not progress to malignant tumors. Data imply the requirement of other oncogenic signaling pathways for full transformation in NE lung lesions mutant for the Rb family.
Title: Ablating all three retinoblastoma family members in mouse lung leads to neuroendocrine tumor formation.
the transcriptional corepressor p107 orchestrates a metabolic checkpoint that determines adipocyte lineage fates for non-committed progenitors.
Title: p107 Determines a Metabolic Checkpoint Required for Adipocyte Lineage Fates.
Findings indicate that inactivation of the Rb family proteins (Rb, p107, and p130) in hematopoietic stem cells (HSCs) progressively impairs their homeostasis, which is rescued upon repression of suppressor of cytokine signaling 3 protein (Socs3) expression in triple knockout (TKO) HSCs.
Title: Rb family proteins enforce the homeostasis of quiescent hematopoietic stem cells by repressing Socs3 expression.
p107 is required for the efficient recruitment of an activating SWI/SNF chromatin-remodeling complex, an essential event in Alpl induction.
Title: p107-Dependent recruitment of SWI/SNF to the alkaline phosphatase promoter during osteoblast differentiation.
while p107 alone did not have an essential role in islet homeostasis, when combined with Rb deletion, its absence potentiated apoptosis of both alpha and beta cells resulting in glucose intolerance and diminished islet mass with ageing
Title: Rb and p107 are required for alpha cell survival, beta cell cycle control and glucagon-like peptide-1 action.
Findings indicate that retinoblastoma-like protein p107 expression in stem cells commits cells to the white versus brown adipose lineage.
Title: p107 is a crucial regulator for determining the adipocyte lineage fate choices of stem cells.
p107 retinoblastoma protein is regulated by Cdk6/Ccnd1 in growth plates.
Title: Regulation of Rb family proteins by Cdk6/Ccnd1 in growth plates.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

U27177 (e-PCR)
- UniSTS:125703

U27178 (e-PCR)
- UniSTS:125704

AW547426 (e-PCR)
- UniSTS:159061

Tfam (e-PCR), detects polymorphism
- UniSTS:496730

RH124565 (e-PCR)
- UniSTS:161387

PMC152357P2 (e-PCR)
- UniSTS:271222

Rbl1 (e-PCR), detects polymorphism
- UniSTS:144330

Rbl1 (e-PCR), detects polymorphism
- UniSTS:144331

RH125446 (e-PCR)
- UniSTS:162265

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables promoter-specific chromatin binding	ISO Inferred from Sequence Orthology more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cellular senescence	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cellular senescence	ISO Inferred from Sequence Orthology more info
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 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of lipid kinase activity	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
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
part_of transcription regulator complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: retinoblastoma-like protein 1

Names: 107 kDa retinoblastoma-associated protein; retinoblastoma-like 1 (p107)

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_001139516.1 → NP_001132988.1 retinoblastoma-like protein 1 isoform 2

See identical proteins and their annotated locations for NP_001132988.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. This variant encodes isoform 2 which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK147064, U27178

UniProtKB/TrEMBL

Q8CCD4

Related

ENSMUST00000124518.2

Conserved Domains (2) summary

pfam01858
Location:385 → 578

RB_A; Retinoblastoma-associated protein A domain

pfam11934
Location:77 → 209

DUF3452; Domain of unknown function (DUF3452)
NM_011249.2 → NP_035379.2 retinoblastoma-like protein 1 isoform 1

See identical proteins and their annotated locations for NP_035379.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK147064, BC060124, U27177

Consensus CDS

CCDS16974.1

UniProtKB/Swiss-Prot

Q3U1D4, Q64701

UniProtKB/TrEMBL

Q6PAR4

Related

ENSMUSP00000029170.8, ENSMUST00000029170.8

Conserved Domains (4) summary

pfam01857
Location:786 → 937

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:385 → 578

RB_A; Retinoblastoma-associated protein A domain

pfam08934
Location:956 → 1041

Rb_C; Rb C-terminal domain

pfam11934
Location:77 → 209

DUF3452; Domain of unknown function (DUF3452)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

156987813..157046454 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006499018.1 → XP_006499081.1 retinoblastoma-like protein 1 isoform X1

UniProtKB/TrEMBL

Q6NTA5

Conserved Domains (3) summary

pfam01857
Location:367 → 519

RB_B; Retinoblastoma-associated protein B domain

pfam01858
Location:2 → 159

RB_A; Retinoblastoma-associated protein A domain

pfam08934
Location:537 → 622

Rb_C; Rb C-terminal domain