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RBBP4 Gene

protein-coding   GIFtS: 69
GCID: GC01P033116

Retinoblastoma Binding Protein 4

(Previous name: retinoblastoma-binding protein 4)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinoblastoma Binding Protein 41 2     CAF-1 Subunit C2 3
Retinoblastoma-Binding Protein 41 2 3     CAF-I 48 KDa Subunit2 3
Chromatin Assembly Factor 1 Subunit C2 3     CAF-I P482 3
Chromatin Assembly Factor I P48 Subunit2 3     NURF552
Nucleosome-Remodeling Factor Subunit RBAP482 3     Chromatin Assembly Factor/CAF-1 P48 Subunit2
Retinoblastoma-Binding Protein P482 3     Histone-Binding Protein RBBP42
RBAP482 3     MSI1 Protein Homolog2
RBBP-42 3     

External Ids:    HGNC: 98871   Entrez Gene: 59282   Ensembl: ENSG000001625217   OMIM: 6029235   UniProtKB: Q090283   

Export aliases for RBBP4 gene to outside databases

Previous GC identifers: GC01P032927 GC01P032058 GC01P032543 GC01P032619 GC01P032785 GC01P032889 GC01P031231


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RBBP4 Gene:
This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of
WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It
is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression
associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an
integral component of transcriptional silencing. It is found among several cellular proteins that bind directly
to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in
transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Sep 2008)

GeneCards Summary for RBBP4 Gene:
RBBP4 (retinoblastoma binding protein 4) is a protein-coding gene. Diseases associated with RBBP4 include retinoblastoma, and intermediate charcot-marie-tooth neuropathy. GO annotations related to this gene include histone deacetylase binding and DNA-dependent ATPase activity. An important paralog of this gene is RBBP7.

UniProtKB/Swiss-Prot: RBBP4_HUMAN, Q09028
Function: Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors
and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component
of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1)
complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone
deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the
nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional
repression by histone deacetylation and nucleosome remodeling; the PRC2/EED-EZH2 complex, which promotes
repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex

Gene Wiki entry for RBBP4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBBP4 gene promoter:
         COUP-TF1   COUP-TF   p53   COUP   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBBP4 promoter sequence
   Search Chromatin IP Primers for RBBP4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBBP4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p35.1   Ensembl cytogenetic band:  1p35.1   HGNC cytogenetic band: 1p35.1

RBBP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBBP4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P033116:  view genomic region     (about GC identifiers)

Start:
33,116,743 bp from pter      End:
33,151,812 bp from pter
Size:
35,070 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RBBP4_HUMAN, Q09028 (See protein sequence)
Recommended Name: Histone-binding protein RBBP4  
Size: 425 amino acids; 47656 Da
Subunit: Interacts with SUV39H1 and HDAC7 (By similarity). Binds directly to helix 1 of the histone fold of
histone H4, a region that is not accessible when H4 is in chromatin. Subunit of the chromatin assembly factor 1
(CAF-1) complex, which is composed of RBBP4, CHAF1B and CHAF1A. Subunit of the core histone deacetylase (HDAC)
complex, which is composed of HDAC1, HDAC2, RBBP4 and RBBP7. The core HDAC complex associates with SIN3A,
ARID4B/SAP180, SAP18, SAP30, SAP130, SUDS3/SAP45 and possibly ARID4A/RBP1 and ING1 to form the SIN3 HDAC complex.
The core HDAC complex may also associate with MTA2, MBD3, CHD3 and CHD4 to form the nucleosome remodeling and
histone deacetylase complex (the NuRD complex). The NuRD complex may also interact with MBD3L1 and MBD3L2.
Interacts with MTA1. Subunit of the PRC2/EED-EZH2 complex, which is composed of at least EED, EZH2, RBBP4, RBBP7
and SUZ12. The PRC2/EED-EZH2 complex may also associate with HDAC1. Component of the PRC2/EED-EZH1 complex, which
includes EED, EZH1, SUZ12, RBBP4 and AEBP2. Part of the nucleosome remodeling factor (NURF) complex which
consists of SMARCA1; BPTF; RBBP4 and RBBP7. Interacts with the viral protein-binding domain of the retinoblastoma
protein (RB1). Interacts with SPEN/MINT. Interacts with BRCA1. Interacts with CREBBP, and this interaction may be
enhanced by the binding of phosphorylated CREB1 to CREBBP. Component of the DREAM complex (also named LINC
complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and
TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S
phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2
2 PDB 3D structures from and Proteopedia for RBBP4:
2XU7 (3D)        3GFC (3D)    
Secondary accessions: B2R6G9 B4DRH0 D3DPQ3 P31149 Q53H02 Q96BV9
Alternative splicing: 4 isoforms:  Q09028-1   Q09028-2   Q09028-3   Q09028-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RBBP4: NX_Q09028

Explore proteomics data for RBBP4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys22, Lys143, Lys156, Lys160, Lys178, Lys317
  • Modification sites at PhosphoSitePlus

  • See RBBP4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001128727.1  NP_001128728.1  NP_005601.1  

    ENSEMBL proteins: 
     ENSP00000398242   ENSP00000362592   ENSP00000432780   ENSP00000434925   ENSP00000436663  
     ENSP00000362584   ENSP00000432774   ENSP00000396057   ENSP00000437210   ENSP00000389437  
     ENSP00000436986   ENSP00000433805   ENSP00000432298   ENSP00000436565   ENSP00000442384  
    Reactome Protein details: Q09028

    RBBP4 Human Recombinant Protein Products:

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    Novus Biologicals RBBP4 Proteins
    Novus Biologicals RBBP4 Lysate
    Sino Biological Recombinant Protein for RBBP4
    Sino Biological Cell Lysate for RBBP4
    ProSpec Recombinant Protein for RBBP4
    Cloud-Clone Corp. Proteins for RBBP4

    RBBP4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of RBBP4
    R&D Systems Antibodies for RBBP4
    Cell Signaling Technology (CST) Antibodies for RBBP4 
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    RBBP4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for RBBP4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RBBP4
    Cloud-Clone Corp. CLIAs for RBBP4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR019775 WD40_repeat_CS
     IPR022052 Histone-bd_RBBP4_N
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q09028

    ProtoNet protein and cluster: Q09028

    1 Blocks protein domain: IPB001680 G-protein beta WD-40 repeat signature

    UniProtKB/Swiss-Prot: RBBP4_HUMAN, Q09028
    Similarity: Belongs to the WD repeat RBAP46/RBAP48/MSI1 family
    Similarity: Contains 6 WD repeats


    RBBP4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBBP4_HUMAN, Q09028
    Function: Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors
    and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component
    of several complexes which regulate chromatin metabolism. These include the chromatin assembly factor 1 (CAF-1)
    complex, which is required for chromatin assembly following DNA replication and DNA repair; the core histone
    deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the
    nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional
    repression by histone deacetylation and nucleosome remodeling; the PRC2/EED-EZH2 complex, which promotes
    repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10220385
    GO:0008094contributes to DNA-dependent ATPase activity IDA14609955
    GO:0042393histone binding NAS17827154
    GO:0042826histone deacetylase binding IPI17827154
         
    RBBP4 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for RBBP4:
     Decreased viability after Chla  Decreased viability with pacli  Increased S DNA content  Increased cell death in breast 
     S arrest  Synthetic lethal with cisplati 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBBP4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RBBP4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBBP4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBBP4

    miRNA
    Products:
        
    miRTarBase miRNAs that target RBBP4:
    hsa-mir-324-5p (MIRT043073), hsa-mir-423-3p (MIRT042541), hsa-mir-18a-3p (MIRT040854), hsa-let-7e-5p (MIRT051653)

    Block miRNA regulation of human, mouse, rat RBBP4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBBP4 (see all 119):
    hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-607 hsa-miR-300 hsa-miR-3653 hsa-miR-138-2* hsa-miR-371-5p hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidRBBP4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RBBP4
    Predesigned siRNA for gene silencing in human, mouse, rat RBBP4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for RBBP4

    Clone
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    OriGene clones in human, mouse for RBBP4 (see all 18)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): RBBP4 (NM_001135256)
    Sino Biological Human cDNA Clone for RBBP4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBBP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBBP4

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBBP4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBBP4_HUMAN, Q09028: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA14609955
    GO:0005654nucleoplasm TAS--
    GO:0016580Sin3 complex NAS17827154
    GO:0016581NuRD complex NAS17827154
    GO:0016589NURF complex IDA--

    RBBP4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RBBP4 About   (see all 21)  
    See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Chromosome Maintenance0.62
    Deposition of New CENPA-containing Nucleosomes at the Centromere0.59
    Nucleosome assembly0.59
    Histone modification0.31
    2Cellular Senescence
    Cellular Senescence0.81
    Oxidative Stress Induced Senescence0.64
    Cellular responses to stress0.81
    3RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    RNA Polymerase I Promoter Clearance0.78
    4Regulation of PLK1 Activity at G2/M Transition
    G2/M Transition0.70
    Polo-like kinase mediated events0.00
    Mitotic G2-G2/M phases0.69
    5Development NOTCH1 mediated pathway for NF KB activity modulation
    Development NOTCH1 mediated pathway for NF KB activity modulation0.50
    Transcription Sin3 and NuRD in transcription regulation0.35
    Development Notch Signaling Pathway0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RBBP4
        DNA Methylation and Transcriptional Repression

    1 Cell Signaling Technology (CST) Pathway for RBBP4
        Chromatin Regulation / Acetylation

    5 GeneGo (Thomson Reuters) Pathways for RBBP4
        Transcription P53 signaling pathway
    Development NOTCH1-mediated pathway for NF-KB activity modulation
    Transcription Sin3 and NuRD in transcription regulation
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Development Notch Signaling Pathway

    Selected BioSystems Pathways for RBBP4 (see all 7)
        RB in Cancer
    E2F transcription factor network
    Regulation of nuclear SMAD2/3 signaling
    Signaling events mediated by HDAC Class I
    Regulation of Telomerase


    Selected Reactome Pathways for RBBP4 (see all 6)
        Oxidative Stress Induced Senescence
    PRC2 methylates histones and DNA
    G0 and Early G1
    Polo-like kinase mediated events
    Deposition of new CENPA-containing nucleosomes at the centromere



    RBBP4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including RBBP4: 
              Polycomb & Trithorax Complexes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBBP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RBBP4 (Q090281, 2, 3 ENSP000003625924) via UniProtKB, MINT, STRING, and/or I2D (see all 918)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628052, 3, ENSP000003529804MINT-7220359 I2D: score=13 STRING: ENSP00000352980
    HIST1H4HP628052, 3, ENSP000002893524MINT-7220359 I2D: score=13 STRING: ENSP00000289352
    HIST1H4LP628052, 3, ENSP000003482584MINT-7220359 I2D: score=13 STRING: ENSP00000348258
    HIST1H4BP628052, 3MINT-7220359 I2D: score=13 
    HIST1H4CP628052, 3MINT-7220359 I2D: score=13 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006200ATP catabolic process IDA14609955
    GO:0006260DNA replication IEA--
    GO:0006334nucleosome assembly TAS--

    RBBP4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBBP4



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RBBP4 gene (3 alternative transcripts): 
    NM_001135255.1  NM_001135256.1  NM_005610.2  

    Unigene Cluster for RBBP4:

    Retinoblastoma binding protein 4
    Hs.16003  [show with all ESTs]
    Unigene Representative Sequence: NM_005610
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000414241 ENST00000373493(uc001bvr.3 uc001bvs.3 uc010ohj.2 uc010ohk.2)
    ENST00000527118 ENST00000401893 ENST00000524393 ENST00000526193 ENST00000492348
    ENST00000525506 ENST00000465780 ENST00000373485 ENST00000477563 ENST00000458695
    ENST00000490500 ENST00000445722 ENST00000475321 ENST00000531983 ENST00000463378
    ENST00000460669
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    Selected qRT-PCR Assays for microRNAs that regulate RBBP4 (see all 119):
    hsa-miR-140-5p hsa-miR-26a-2* hsa-miR-607 hsa-miR-300 hsa-miR-3653 hsa-miR-138-2* hsa-miR-371-5p hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidRBBP4 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): RBBP4 (NM_001135256)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBBP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBBP4
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RBBP4
      QuantiTect SYBR Green Assays in human, mouse, rat RBBP4
      QuantiFast Probe-based Assays in human, mouse, rat RBBP4

    Additional mRNA sequence: 

    AF085904.1 AK054859.1 AK056356.1 AK056550.1 AK222779.1 AK299251.1 AK312571.1 BC003092.1 
    BC015123.1 BC053904.1 BC075836.1 BT007309.1 X71810.1 X74262.1 

    Selected DOTS entries (see all 32):

    DT.455410  DT.100861479  DT.121463449  DT.121463615  DT.318186  DT.91970046  DT.100799516  DT.92455261 
    DT.100037462  DT.100770926  DT.75124591  DT.100861478  DT.100861488  DT.120815332  DT.97859978  DT.100861485 
    DT.102833845  DT.102938  DT.121463394  DT.40189296  DT.95169498  DT.95169504  DT.100861474  DT.100861475 

    Selected AceView cDNA sequences (see all 574):

    BG282998 AA730527 BM709656 AA359673 AA354104 AA922473 AI273365 AA703653 
    AU117757 AA910604 BG574447 AA999738 AA292984 CR611583 AA330258 BU507241 
    BX953916 BQ937712 BM469581 AL701913 BE464607 AU117027 AA331529 CR600272 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RBBP4    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
    SP1:                                                                                      -               
    SP2:                                                                                                      
    SP3:                                                                                                      
    SP4:                                                                                                      


    ECgene alternative splicing isoforms for RBBP4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBBP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTAACTGTG
    RBBP4 Expression
    About this image


    RBBP4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    RBBP4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBBP4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.16003
        Pathway & Disease-focused RT2 Profiler PCR Array including RBBP4: 
              Polycomb & Trithorax Complexes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RBBP4 gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbbp41 , 5 retinoblastoma binding protein 41, 5 92.24(n)1
    100(a)1
      4 (63.26 cM)5
    196461  NM_009030.31  NP_033056.21 
     1293071005 
    chicken
    (Gallus gallus)
    Aves RBBP41 retinoblastoma binding protein 4 86.04(n)
    99.76(a)
      395658  NM_204852.1  NP_990183.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBBP46
    retinoblastoma binding protein 4
    97(a)
    1 ↔ 1
    GL344283.1(43435-55286)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.5372 Xenopus laevis retinoblastoma A associated protein more 82.44(n)    AF073787.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.27412 Danio rerio mRNA similar to retinoblastoma binding more 81.28(n)    BC063984.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Caf11 , 3 negative regulation of transcription by
    homeotic more3
    Chromatin assembly factor 1 subunit1
    91(a)3
    74.15(n)1
    91.06(a)1
      3 88E33
    418361  NM_001170146.21  NP_001163617.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rba-13
    lin-531
    retinablastoma-binding protein RBAP46
    like3
    lin-531
    54(a)3
    66.91(n)1
    73.4(a)1
      I(9624662-9626157)3
    1728021  NM_060151.61  NP_492552.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HAT2(YEL056W)4 Subunit of the Hat1p-Hat2p histone acetyltransferase more   --   5(47168-48373) 856654  NP_010858.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MSI11 MSI1 63.11(n)
    67.23(a)
      835935  NM_125208.3  NP_200631.1 
    rice
    (Oryza sativa)
    Liliopsida Os.373452 Oryza sativa (japonica cultivar-group) cDNA clone0 more 74.28(n)    AK059114.1 


    ENSEMBL Gene Tree for RBBP4 (if available)
    TreeFam Gene Tree for RBBP4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBBP4 gene
    RBBP72  RFWD22  
    Selected SIMAP similar genes for RBBP4 using alignment to 11 protein entries:     RBBP4_HUMAN (see all proteins) (see all similar genes):
    RBBP7    AURA2    CTSS    UTY    TMEM14B    ZNF737
    ZNF564    APOD    SPATS2L    THOC3    LINC00596    NF2
    TSEN2    ZNF738    ZNF611    SHANK2    FAM175A    NEK4

    RBBP4 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for RBBP4 (see all 6)
    PGOHUM00000248048 PGOHUM00000237685 PGOHUM00000235127 PGOHUM00000235304 PGOHUM00000243216


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBBP4 (see all 696)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs114590181,2
    C--31250702(+) AAAAA-/GGAAAA 3 -- int1 trp30--------
    rs1461100471,2
    --33118210(+) GAGCTC/TGACTC 3 -- int10--------
    rs1830712331,2
    --33118334(+) AGAGAC/TGGGGT 3 -- int10--------
    rs1144684981,2
    F--33118484(+) GTCATG/AGTACC 3 -- int11Minor allele frequency- A:0.02WA 118
    rs1872675341,2
    --33118649(+) GGGCTA/GAAAGA 3 -- int10--------
    rs17648901,2
    C,F,A,H--33118712(+) AATAGT/CTTGCA 3 -- int120Minor allele frequency- C:0.03NA NS EA WA CSA 930
    rs1901786341,2
    --33118836(+) CATTTC/GTTAGG 3 -- int10--------
    rs1824515311,2
    --33118968(+) ATTACA/GTTCAA 3 -- int10--------
    rs715163261,2
    C--33119247(+) TTTTTG/TTTTTT 3 -- int12Minor allele frequency- T:0.00NA 4
    rs665014581,2
    C--33119261(+) TTTTT-/G/GTT 
            
    TTTGT
    6 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for RBBP4 (33116743 - 33151812 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RBBP4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv160489CNV Loss16902084
    nsv461039CNV Loss19166990
    nsv519188CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBBP4
    DNA2.0 Custom Variant and Variant Library Synthesis for RBBP4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602923    OMIM disorders: --

    Selected diseases for RBBP4 (see all 22):    
    About MalaCards
    retinoblastoma    intermediate charcot-marie-tooth neuropathy    dermatomyositis    tuberous sclerosis
    sjogren's syndrome    neuropathy    brain cancer    thyroid cancer
    cervical cancer    thyroiditis    mental retardation    cervicitis
    tonsillitis    hepatocellular carcinoma    lung cancer    breast cancer
    hiv-1    multiple myeloma    myeloma    cerebritis

    1 disease from the University of Copenhagen DISEASES database for RBBP4:
    Retinoblastoma

    RBBP4 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for RBBP4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 72.6 4 10734134 (1), 15240517 (1), 17616526 (1), 19759913 (1)
    tumors 0 2 17616526 (2)

    Genetic Association Database (GAD): RBBP4
    Human Genome Epidemiology (HuGE) Navigator: RBBP4 (3 documents)

    Export disorders for RBBP4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RBBP4 gene, integrated from 10 sources (see all 181):
    (articles sorted by number of sources associating them with RBBP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of human NURF: a regulator of Engrailed gene expression. (PubMed id 14609955)1, 2, 3 Barak O....Shiekhattar R. (EMBO J. 2003)
    2. A retinoblastoma-binding protein related to a negative regulator of Ras in yeast. (PubMed id 8350924)1, 2, 3 Qian Y.-W....Lee E.Y.-H.P. (Nature 1993)
    3. RbAp48 belongs to the histone deacetylase complex that associates with the retinoblastoma protein. (PubMed id 10734134)1, 2, 9 Nicolas E.... Trouche D. (J. Biol. Chem. 2000)
    4. SAP30, a novel protein conserved between human and yeast, is a component of a histone deacetylase complex. (PubMed id 9651585)1, 2, 9 Zhang Y.... Reinberg D. (Mol. Cell 1998)
    5. LINC, a human complex that is related to pRB-containing complexes in invertebrates regulates the expression of G2/M genes. (PubMed id 17671431)1, 2, 9 Schmit F.... Gaubatz S. (Cell Cycle 2007)
    6. MBD3L2 interacts with MBD3 and components of the NuRD complex and can oppose MBD2-MeCP1-mediated methylation silencing. (PubMed id 15701600)1, 2, 9 Jin S.-G.... Pfeifer G.P. (J. Biol. Chem. 2005)
    7. Role of the Sin3-histone deacetylase complex in growth regulation by the candidate tumor suppressor p33(ING1). (PubMed id 11784859)1, 2, 9 Kuzmichev A.... Reinberg D. (Mol. Cell. Biol. 2002)
    8. Differential association of products of alternative transcripts of the candidate tumor suppressor ING1 with the mSin3/HDAC1 transcriptional corepressor complex. (PubMed id 11118440)1, 2, 9 Skowyra D.... Qin J. (J. Biol. Chem. 2001)
    9. BRCA1 interacts with components of the histone deacetylase complex. (PubMed id 10220405)1, 2, 9 Yarden R.I. and Brody L.C. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    10. A role for histone deacetylase activity in HDAC1-mediated transcriptional repression. (PubMed id 9520398)1, 2, 9 Hassig C.A.... Schreiber S.L. (Proc. Natl. Acad. Sci. U.S.A. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5928 HGNC: 9887 AceView: RBBP4 Ensembl:ENSG00000162521 euGenes: HUgn5928
    ECgene: RBBP4 H-InvDB: RBBP4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RBBP4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBBP4 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBBP4 gene:
    Search GeneIP for patents involving RBBP4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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