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

Gene ID: 5933, updated on 21-Dec-2019

Summary

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
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

Genomic context

See RBL1 in Genome Data Viewer
Location:
20q11.23
Exon count:
22
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (36996349..37096029, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35624752..35724403, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 156, pseudogene Neighboring gene TBC/LysM-associated domain containing 2 Neighboring gene SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 Neighboring gene RPS3A pseudogene 3 Neighboring gene ribosomal protein S27a pseudogene 3 Neighboring gene maestro heat like repeat family member 8 Neighboring gene ribosomal protein L13 pseudogene Neighboring gene ribophorin II

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC40006

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II activating transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
promoter-specific chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of G1/S transition of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cellular senescence IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
regulation of lipid kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitotic cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
colocalizes_with nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001323281.2NP_001310210.1  retinoblastoma-like protein 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL136172, AL365505, AL391114, BQ004524
    Conserved Domains (3) summary
    pfam01857
    Location:360515
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:1151
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:534619
    Rb_C; Rb C-terminal domain
  2. NM_001323282.2NP_001310211.1  retinoblastoma-like protein 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL136172, AL365505, AL391114, BQ004524
    Conserved Domains (3) summary
    pfam01857
    Location:360515
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:1151
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:534619
    Rb_C; Rb C-terminal domain
  3. NM_002895.5NP_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
    P28749
    Related
    ENSP00000362768.3, ENST00000373664.8
    Conserved Domains (4) summary
    pfam01857
    Location:787942
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:385578
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:9611046
    Rb_C; Rb C-terminal domain
    pfam11934
    Location:77209
    DUF3452; Domain of unknown function (DUF3452)
  4. NM_183404.4NP_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:787942
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:385578
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:9611003
    Rb_C; Rb C-terminal domain
    pfam11934
    Location:77209
    DUF3452; Domain of unknown function (DUF3452)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    36996349..37096029 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451957.1XP_024307725.1  retinoblastoma-like protein 1 isoform X2

    Conserved Domains (3) summary
    pfam01857
    Location:824979
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:422615
    RB_A; Retinoblastoma-associated protein A domain
    pfam11934
    Location:77246
    DUF3452; Domain of unknown function (DUF3452)
  2. XM_024451956.1XP_024307724.1  retinoblastoma-like protein 1 isoform X1

    Conserved Domains (4) summary
    pfam01857
    Location:824979
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:422615
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:9981083
    Rb_C; Rb C-terminal domain
    pfam11934
    Location:77246
    DUF3452; Domain of unknown function (DUF3452)
  3. XM_017027992.1XP_016883481.1  retinoblastoma-like protein 1 isoform X3

    Conserved Domains (4) summary
    pfam01857
    Location:683838
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:281474
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:857942
    Rb_C; Rb C-terminal domain
    pfam11934
    Location:1105
    DUF3452; Domain of unknown function (DUF3452)
  4. XM_006723842.3XP_006723905.1  retinoblastoma-like protein 1 isoform X4

    Conserved Domains (4) summary
    pfam01857
    Location:615770
    RB_B; Retinoblastoma-associated protein B domain
    pfam01858
    Location:213406
    RB_A; Retinoblastoma-associated protein A domain
    pfam08934
    Location:789874
    Rb_C; Rb C-terminal domain
    pfam11934
    Location:1337
    DUF3452; Domain of unknown function (DUF3452)
  5. XM_024451958.1XP_024307726.1  retinoblastoma-like protein 1 isoform X5

    Conserved Domains (2) summary
    pfam01858
    Location:422615
    RB_A; Retinoblastoma-associated protein A domain
    pfam11934
    Location:77246
    DUF3452; Domain of unknown function (DUF3452)
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