U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 5933, updated on 9-Dec-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RBL1 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36996349..37095997, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38720692..38820363, complement)
    RS_2024_09 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

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Component Evidence Code Pubs
    located_in 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

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

    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.

    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
      A8K2W5, P28749, Q4VXA0, Q8N5K6, Q9H1L5, Q9H1M1
      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: 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_000020.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

    3. XM_047440350.1XP_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_054323789.1XP_054179764.1  retinoblastoma-like protein 1 isoform X1

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

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

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