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    RBBP6 RB binding protein 6, ubiquitin ligase [ Homo sapiens (human) ]

    Gene ID: 5930, updated on 16-Aug-2021

    Summary

    Official Symbol
    RBBP6provided by HGNC
    Official Full Name
    RB binding protein 6, ubiquitin ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:9889
    See related
    Ensembl:ENSG00000122257 MIM:600938
    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
    PACT; MY038; P2P-R; RBQ-1; SNAMA
    Summary
    The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 14.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RBBP6 in Genome Data Viewer
    Location:
    16p12.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (24539566..24572863)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (24550887..24584184)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371143 Neighboring gene Sharpr-MPRA regulatory region 12060 Neighboring gene acyl-CoA-binding domain-containing protein 7-like Neighboring gene trinucleotide repeat containing adaptor 6A Neighboring gene long intergenic non-protein coding RNA 1567

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available
    Voxelwise genome-wide association study (vGWAS).
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag The interaction of HIV-1 CA with human cellular retinoblastoma binding protein 6 (RBBP6) is identified by yeast two-hybrid screen PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686P0638, DKFZp761B2423

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in somite development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase RBBP6
    Names
    RB-binding Q-protein 1
    RING-type E3 ubiquitin transferase RBBP6
    p53-associated cellular protein of testis
    proliferation potential-related protein
    protein P2P-R
    retinoblastoma binding protein 6
    retinoblastoma-binding Q protein 1
    NP_008841.2
    NP_061173.1
    NP_116015.2

    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_006910.5NP_008841.2  E3 ubiquitin-protein ligase RBBP6 isoform 1

      See identical proteins and their annotated locations for NP_008841.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longest transcript and it encodes the longest isoform (1).
      Source sequence(s)
      AB112074, AC010321, AK026954, AL359564, BF727303, BI489954, BM314442
      Consensus CDS
      CCDS10621.1
      UniProtKB/Swiss-Prot
      Q7Z6E9
      Related
      ENSP00000317872.4, ENST00000319715.10
      Conserved Domains (4) summary
      smart00184
      Location:259299
      RING; Ring finger
      COG5222
      Location:2322
      COG5222; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      pfam08783
      Location:475
      DWNN; DWNN domain
      pfam13696
      Location:156176
      zf-CCHC_2; Zinc knuckle
    2. NM_018703.4NP_061173.1  E3 ubiquitin-protein ligase RBBP6 isoform 2

      See identical proteins and their annotated locations for NP_061173.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AB112075, AC010321, AK026954, AL359564, BF727303, BI489954, BM314442
      Consensus CDS
      CCDS10622.1
      UniProtKB/Swiss-Prot
      Q7Z6E9
      Related
      ENSP00000316291.4, ENST00000348022.6
      Conserved Domains (4) summary
      smart00184
      Location:259299
      RING; Ring finger
      COG5222
      Location:2322
      COG5222; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      pfam08783
      Location:475
      DWNN; DWNN domain
      pfam13696
      Location:156176
      zf-CCHC_2; Zinc knuckle
    3. NM_032626.6NP_116015.2  E3 ubiquitin-protein ligase RBBP6 isoform 3

      See identical proteins and their annotated locations for NP_116015.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, compared to variant 1, that results in a frameshift. It encodes isoform 3 which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC010321, BF727303, BI489954, BM314442, CB529116
      Consensus CDS
      CCDS45444.1
      UniProtKB/Swiss-Prot
      Q7Z6E9
      Related
      ENSP00000390537.2, ENST00000452655.6
      Conserved Domains (1) summary
      pfam08783
      Location:475
      DWNN; DWNN domain

    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_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      24539566..24572863
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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