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RBL1 RB transcriptional corepressor like 1 [ Homo sapiens (human) ]

Gene ID: 5933, updated on 7-Apr-2024

Summary

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Official Symbol
RBL1provided by HGNC
Official Full Name
RB transcriptional corepressor like 1provided by HGNC
Primary source
HGNC:HGNC:9893
See related
Ensembl:ENSG00000080839 MIM:116957; AllianceGenome:HGNC:9893
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
PRB1; p107; CP107
Summary
The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in lymph node (RPKM 3.5), bone marrow (RPKM 2.8) and 25 other tissues See more
Orthologs
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Genomic context

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See RBL1 in Genome Data Viewer
Location:
20q11.23
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36996349..37095997, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38720692..38820363, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35624752..35724400, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35500385-35500891 Neighboring gene RNA, 7SL, cytoplasmic 156, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35515591-35516313 Neighboring gene TBC/LysM-associated domain containing 2 Neighboring gene SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:35575178-35576013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12883 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:35604082-35604653 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35604654-35605224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35618031-35618532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35618533-35619032 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35628373-35629300 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35640175-35641116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17826 Neighboring gene RPS3A pseudogene 3 Neighboring gene RPS27A pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17827 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35724092-35724768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17829 Neighboring gene maestro heat like repeat family member 8 Neighboring gene ribosomal protein L13 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35807291-35807850 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35807851-35808408 Neighboring gene Sharpr-MPRA regulatory region 9458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35821940-35822774 Neighboring gene ribophorin II Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35858877-35859417

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Decreased transcriptional corepressor p107 is associated with exercise-induced mitochondrial biogenesis in human skeletal muscle. Bhattacharya D, et al. Physiol Rep, 2017 Mar. PMID 28270591, Free PMC Article
  2. Methylation of promoter of RBL1 enhances the radioresistance of three dimensional cultured carcinoma cells. Pan D, et al. Oncotarget, 2017 Jan 17. PMID 27779109, Free PMC Article
  3. A case of bilateral retinoblastoma with a novel mutation presenting at retinopathy of prematurity screening. Al-Abdi SY. Saudi Med J, 2012 Jun. PMID 22729126
  4. A 20.5-Mb germline deletion of 13q13.1-->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation. Chen CP, et al. Genet Couns, 2011. PMID 22303805
  5. Decreased expression of p107 is correlated with anaplastic transformation in papillary carcinoma of the thyroid. Ito Y, et al. Anticancer Res, 2003 Sep-Oct. PMID 14666683

See all (155) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.
    Title: Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells.
  2. PP2A/B55alpha substrate recruitment as defined by the retinoblastoma-related protein p107.
    Title: PP2A/B55α substrate recruitment as defined by the retinoblastoma-related protein p107.
  3. Study found that the methylation of global DNA decreased gradually after irradiation, and the methylation of the promoter of RBL1 gene may play an important role in the induction of radioresistance for three dimensional cultured carcinoma cells.
    Title: Methylation of promoter of RBL1 enhances the radioresistance of three dimensional cultured carcinoma cells.
  4. These findings in human skeletal muscle suggest that attenuated transcriptional repression through p107 may be a novel mechanism by which exercise stimulates mitochondrial biogenesis following exercise.
    Title: Decreased transcriptional corepressor p107 is associated with exercise-induced mitochondrial biogenesis in human skeletal muscle.
  5. The authors found that phosphorylation of residues S650 and S975 in p107 weakens the E2F4 transactivation domain binding.
    Title: Structural Conservation and E2F Binding Specificity within the Retinoblastoma Pocket Protein Family.
  6. UL97 phosphorylates and inactivates the retinoblastoma protein-related p107 and p130 proteins
    Title: Human cytomegalovirus-encoded viral cyclin-dependent kinase (v-CDK) UL97 phosphorylates and inactivates the retinoblastoma protein-related p107 and p130 proteins.
  7. Sequence analysis of the RB1 gene detected a novel mutation in bilateral retinoblastoma.
    Title: A case of bilateral retinoblastoma with a novel mutation presenting at retinopathy of prematurity screening.
  8. MAGE-A11 is a proto-oncogene whose increased expression in prostate cancer reverses retinoblastoma-related protein p107 from a transcriptional repressor to a transcriptional activator of the androgen receptor and E2F1.
    Title: Proto-oncogene activity of melanoma antigen-A11 (MAGE-A11) regulates retinoblastoma-related p107 and E2F1 proteins.
  9. Single nucleotide polymorphism in the ultraconserved elements of RBL1 gene is associated with recurrence in colorectal adenocarcinoma.
    Title: Identification of polymorphisms in ultraconserved elements associated with clinical outcomes in locally advanced colorectal adenocarcinoma.
  10. Concomitant germline large cytogenetic 13q deletion and somatic mutations in the RB1 gene in unilateral retinoblastoma.
    Title: A 20.5-Mb germline deletion of 13q13.1-->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation.
Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC40006

Gene Ontology Provided by GOA

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 IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
  
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 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 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of lipid kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
retinoblastoma-like protein 1
Names
107 kDa retinoblastoma-associated protein
retinoblastoma-like 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)

  1. NM_001323281.2 → NP_001310210.1  retinoblastoma-like protein 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL136172, AL365505, AL391114, BQ004524
    Conserved Domains (3) summary
    pfam01857
    Location:360 → 515
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:1 → 151
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:534 → 619
    Rb_C; Rb C-terminal domain

  2. NM_001323282.2 → NP_001310211.1  retinoblastoma-like protein 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL136172, AL365505, AL391114, BQ004524
    Conserved Domains (3) summary
    pfam01857
    Location:360 → 515
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:1 → 151
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:534 → 619
    Rb_C; Rb C-terminal domain

  3. NM_002895.5 → NP_002886.2  retinoblastoma-like protein 1 isoform a

    See identical proteins and their annotated locations for NP_002886.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AK290380, AL365505, BQ004524, DC375054
    Consensus CDS
    CCDS13289.1
    UniProtKB/Swiss-Prot
    A8K2W5, P28749, Q4VXA0, Q8N5K6, Q9H1L5, Q9H1M1
    Related
    ENSP00000362768.3, ENST00000373664.8
    Conserved Domains (4) summary
    pfam01857
    Location:787 → 942
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:385 → 578
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:961 → 1046
    Rb_C; Rb C-terminal domain
    pfam11934
    Location:77 → 209
    DUF3452; Domain of unknown function (DUF3452)

  4. NM_183404.4 → NP_899662.1  retinoblastoma-like protein 1 isoform b

    See identical proteins and their annotated locations for NP_899662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC032247, DC375054
    Consensus CDS
    CCDS13290.1
    UniProtKB/Swiss-Prot
    P28749
    Related
    ENSP00000343646.3, ENST00000344359.7
    Conserved Domains (4) summary
    pfam01857
    Location:787 → 942
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:385 → 578
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:961 → 1003
    Rb_C; Rb C-terminal domain
    pfam11934
    Location:77 → 209
    DUF3452; Domain of unknown function (DUF3452)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    36996349..37095997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440348.1 → XP_047296304.1  retinoblastoma-like protein 1 isoform X1

  2. XM_047440349.1 → XP_047296305.1  retinoblastoma-like protein 1 isoform X2

  3. XM_047440350.1 → XP_047296306.1  retinoblastoma-like protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    38720692..38820363 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323789.1 → XP_054179764.1  retinoblastoma-like protein 1 isoform X1

  2. XM_054323791.1 → XP_054179766.1  retinoblastoma-like protein 1 isoform X4

  3. XM_054323790.1 → XP_054179765.1  retinoblastoma-like protein 1 isoform X2

  4. XM_054323792.1 → XP_054179767.1  retinoblastoma-like protein 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P28749.3 GenPept UniProtKB/Swiss-Prot:P28749

Gene LinkOut

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