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

Gene ID: 5930, updated on 6-Jan-2019

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

Genomic context

See RBBP6 in Genome Data Viewer
Location:
16p12.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (24539587..24572863)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (24550866..24584184)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 24 pseudogene Neighboring gene uncharacterized LOC105371143 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Voxelwise genome-wide association study (vGWAS).
NHGRI GWA Catalog

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

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

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
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-protein transferase activity EXP
Inferred from Experiment
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA replication IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
somite development IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
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 
chromosome IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
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
retinoblastoma-binding protein 6, isoform 3
NP_008841.2
NP_061173.1
NP_116015.2

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_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, ENST00000319715.9
    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_018703.3NP_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, 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_032626.5NP_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)
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    24539587..24572863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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