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

    Gene ID: 5933, updated on 8-Jul-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See RBL1 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (36996349..37096029, complement)
    105.20201022 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 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 RPS27A 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

    Associated conditions

    Description Tests
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    GeneReviews: Not available

    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
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables promoter-specific chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 

    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
      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 109.20210514

    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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