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RBBP7 Gene

protein-coding   GIFtS: 64
GCID: GC0XM016772

Retinoblastoma Binding Protein 7

(Previous name: retinoblastoma-binding protein 7)
  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 71 2     Nucleosome-Remodeling Factor Subunit RBAP462 3
Retinoblastoma-Binding Protein 71 2 3     RBBP-72 3
Histone Acetyltransferase Type B Subunit 21 2 3     RbAp462
Retinoblastoma-Binding Protein P461 2 3     Histone-Binding Protein RBBP72
G1/S Transition Control Protein-Binding Protein RbAp461 2     RBAP463
Retinoblastoma-Binding Protein RbAp461 2     

External Ids:    HGNC: 98901   Entrez Gene: 59312   Ensembl: ENSG000001020547   OMIM: 3008255   UniProtKB: Q165763   

Export aliases for RBBP7 gene to outside databases

Previous GC identifers: GC0XM016594 GC0XM015730 GC0XM016063 GC0XM016225 GC0XM016226 GC0XM016622 GC0XM014625


(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 RBBP7 Gene:
This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat
proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell
proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor
complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with
BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov 2010)

GeneCards Summary for RBBP7 Gene:
RBBP7 (retinoblastoma binding protein 7) is a protein-coding gene. Diseases associated with RBBP7 include retinoblastoma, and wilms tumor. An important paralog of this gene is RFWD2.

UniProtKB/Swiss-Prot: RBBP7_HUMAN, Q16576
Function: Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases
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 type B histone acetyltransferase
(HAT) complex, which is required for chromatin assembly following DNA replication; 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; and the PRC2/EED-EZH2 complex, which promotes repression of
homeotic genes during development; and the NURF (nucleosome remodeling factor) complex

Gene Wiki entry for RBBP7 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_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBBP7 gene promoter:
         E2F-3a   E2F-4   E2F-5   AP-1   ATF-2   E2F-2   E2F   E2F-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBBP7 promoter sequence
   Search Chromatin IP Primers for RBBP7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBBP7


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

Entrez Gene cytogenetic band: Xp22.2   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.22

RBBP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBBP7 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM016772:  view genomic region     (about GC identifiers)

Start:
16,857,406 bp from pter      End:
16,888,537 bp from pter
Size:
31,132 bases      Orientation:
minus 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: RBBP7_HUMAN, Q16576 (See protein sequence)
Recommended Name: Histone-binding protein RBBP7  
Size: 425 amino acids; 47820 Da
Subunit: 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 type B histone acetyltransferase (HAT) complex, composed of RBBP7 and HAT1. 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. 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 CREBBP, and this interaction may
be enhanced by the binding of phosphorylated CREB1 to CREBBP. Interacts with BRCA1, HDAC7 and SUV39H1
2 PDB 3D structures from and Proteopedia for RBBP7:
3CFS (3D)        3CFV (3D)    
Secondary accessions: Q5JP00
Alternative splicing: 2 isoforms:  Q16576-1   Q16576-2   (No experimental confirmation available. Initiator Met-1 is removed. Contains a N-acetylalanine at position 2. Contains a phosphoserine at position 13)

Explore the universe of human proteins at neXtProt for RBBP7: NX_Q16576

Explore proteomics data for RBBP7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys21, Lys101, Lys119, Lys142, Lys155, Lys159, Lys316
  • Modification sites at PhosphoSitePlus

  • See RBBP7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001185648.1  NP_002884.1  

    ENSEMBL proteins: 
     ENSP00000415747   ENSP00000369427   ENSP00000369424   ENSP00000386068   ENSP00000402796  
     ENSP00000392714   ENSP00000417791   ENSP00000417507  
    Reactome Protein details: Q16576

    RBBP7 Human Recombinant Protein Products:

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    Novus Biologicals RBBP7 Protein
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    Cloud-Clone Corp. Proteins for RBBP7

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    Abcam antibodies for RBBP7 (Q09028, Q16576)
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    RBBP7 Assay Products:

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    (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 Q16576

    ProtoNet protein and cluster: Q16576

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

    UniProtKB/Swiss-Prot: RBBP7_HUMAN, Q16576
    Similarity: Belongs to the WD repeat RBAP46/RBAP48/MSI1 family
    Similarity: Contains 7 WD repeats


    RBBP7 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: RBBP7_HUMAN, Q16576
    Function: Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases
    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 type B histone acetyltransferase
    (HAT) complex, which is required for chromatin assembly following DNA replication; 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; and the PRC2/EED-EZH2 complex, which promotes repression of
    homeotic genes during development; and the NURF (nucleosome remodeling factor) complex

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17255935
         
    RBBP7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RBBP7:
     Increased cell number in G1, a 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rbbp7):
     embryogenesis  hematopoietic system  immune system 

    RBBP7 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBBP7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RBBP7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBBP7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBBP7

    miRNA
    Products:
        
    miRTarBase miRNAs that target RBBP7:
    hsa-mir-30b-5p (MIRT046129), hsa-mir-92a-3p (MIRT049160), hsa-mir-93-5p (MIRT028061), hsa-mir-30e-3p (MIRT044126), hsa-mir-421 (MIRT016133)

    Block miRNA regulation of human, mouse, rat RBBP7 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate RBBP7:
    hsa-miR-181c hsa-miR-518a-5p hsa-miR-101 hsa-miR-181a hsa-miR-181d hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidRBBP7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RBBP7
    Predesigned siRNA for gene silencing in human, mouse, rat RBBP7

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for RBBP7

    Clone
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    OriGene clones in human, mouse for RBBP7 (see all 9)
    OriGene ORF clones in mouse, rat for RBBP7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RBBP7 (NM_001198719)
    Sino Biological Human cDNA Clone for RBBP7
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBBP7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBBP7

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for RBBP7 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBBP7


    (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
    RBBP7_HUMAN, Q16576: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0016581NuRD complex IDA19644445
    GO:0035098ESC/E(Z) complex IDA--

    RBBP7 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 RBBP7 About   (see all 17)  
    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
    2RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    Chromatin modifying enzymes0.34
    RNA Polymerase I Promoter Clearance0.78
    HATs acetylate histones0.34
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    Chromatin organization0.34
    3Cellular Senescence
    Cellular Senescence0.81
    Oxidative Stress Induced Senescence0.64
    Cellular responses to stress0.81
    4Development 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
    5Cell Cycle, Mitotic
    Cell Cycle0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RBBP7
        DNA Methylation and Transcriptional Repression

    1 Cell Signaling Technology (CST) Pathway for RBBP7
        Chromatin Regulation / Acetylation

    5 GeneGo (Thomson Reuters) Pathways for RBBP7
        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 RBBP7 (see all 6)
        EGFR1 Signaling Pathway
    RB in Cancer
    Regulation of nuclear SMAD2/3 signaling
    Signaling events mediated by HDAC Class I
    Regulation of Telomerase


    5 Reactome Pathways for RBBP7
        Oxidative Stress Induced Senescence
    HATs acetylate histones
    PRC2 methylates histones and DNA
    Deposition of new CENPA-containing nucleosomes at the centromere
    RNA Polymerase I Transcription Initiation



    RBBP7 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBBP7: 
              Polycomb & Trithorax Complexes in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBBP7

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

    Selected Interacting proteins for RBBP7 (Q165761, 2, 3 ENSP000003694274) via UniProtKB, MINT, STRING, and/or I2D (see all 1030)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628051, 3, ENSP000003529804EBI-352227,EBI-302023 I2D: score=3 STRING: ENSP00000352980
    HIST1H4HP628051, 3, ENSP000002893524EBI-352227,EBI-302023 I2D: score=3 STRING: ENSP00000289352
    HIST1H4LP628051, 3, ENSP000003482584EBI-352227,EBI-302023 I2D: score=3 STRING: ENSP00000348258
    HIST4H4P628051, 3, ENSP000003507674EBI-352227,EBI-302023 I2D: score=3 STRING: ENSP00000350767
    HIST1H4BP628051, 3EBI-352227,EBI-302023 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006260DNA replication IEA--
    GO:0006325chromatin organization TAS--
    GO:0006334nucleosome assembly TAS--
    GO:0006351transcription, DNA-templated IEA--

    RBBP7 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 RBBP7



    (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 RBBP7 gene (2 alternative transcripts): 
    NM_001198719.1  NM_002893.3  

    Unigene Cluster for RBBP7:

    Retinoblastoma binding protein 7
    Hs.495755  [show with all ESTs]
    Unigene Representative Sequence: AK127332
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000425696 ENST00000380087(uc004cxt.3) ENST00000330735 ENST00000465244
    ENST00000380084(uc004cxs.2) ENST00000404022 ENST00000481586 ENST00000444437
    ENST00000416035 ENST00000486166(uc010nez.3) ENST00000468092 ENST00000493145

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    7 qRT-PCR Assays for microRNAs that regulate RBBP7:
    hsa-miR-181c hsa-miR-518a-5p hsa-miR-101 hsa-miR-181a hsa-miR-181d hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidRBBP7 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): RBBP7 (NM_001198719)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBBP7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBBP7
    Primer
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    OriGene qPCR primer pairs and template standards for RBBP7
    OriGene qSTAR qPCR primer pairs in human, mouse for RBBP7
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      QuantiTect SYBR Green Assays in human, mouse, rat RBBP7
      QuantiFast Probe-based Assays in human, mouse, rat RBBP7

    Additional mRNA sequence: 

    AK091911.1 AK127332.1 AK291567.1 AK310309.1 BC114500.1 BC114501.1 CR541701.1 U35143.1 
    X72841.1 

    Selected DOTS entries (see all 36):

    DT.95376562  DT.100880564  DT.100880557  DT.95376690  DT.100031134  DT.40258382  DT.100880552  DT.91772245 
    DT.100031137  DT.121292438  DT.97860397  DT.95377288  DT.121292473  DT.91772229  DT.100880553  DT.101980328 
    DT.121292394  DT.91772241  DT.100842911  DT.100880555  DT.121292355  DT.121292451  DT.121292478  DT.95376547 

    Selected AceView cDNA sequences (see all 745):

    BI492367 BF515525 BU179214 BE676739 AW247834 BE139058 BQ021807 BQ000609 
    BU845348 CR615058 CA942329 BQ931993 AI276437 AU134969 AI536757 BM722743 
    AI500663 BM459395 BQ775345 AA552674 AW248821 BM699147 BE044365 BU161497 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RBBP7 (see all 12)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a ·
    SP1:              -     -                                                                 -                 -     -     -                 -                     
    SP2:                    -                                                                 -                 -     -     -                 -                     
    SP3:                                                                                      -           -                                                         
    SP4:                                                                                      -                 -     -     -                 -     -     -         
    SP5:              -     -                                   -                                                                                                   

    ExUns: 13b · 13c
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for RBBP7

    (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)
    About This Section

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    RBBP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGCTTGAT
    RBBP7 Expression
    About this image


    RBBP7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) 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
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Neural Tube (Nervous System)
             Mesencephalic Ventricular Zone
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    RBBP7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBBP7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495755
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBBP7: 
              Polycomb & Trithorax Complexes in human mouse rat
              Polycomb & Trithorax Target Genes 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 animals and fungi.

    Orthologs for RBBP7 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbbp71 , 5 retinoblastoma binding protein 71, 5 93.21(n)1
    99.05(a)1
      X (74.97 cM)5
    2456881  NM_009031.31  NP_033057.31 
     1627604025 
    chicken
    (Gallus gallus)
    Aves RBBP71 retinoblastoma binding protein 7 82.11(n)
    93.59(a)
      395390  NM_204670.1  NP_990001.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia rbbp7-prov2 retinoblastoma binding protein 7 81.87(n)    BC042283.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rbb4l1 retinoblastoma binding protein 4, like 77.41(n)
    89.34(a)
      322129  NM_212610.1  NP_997775.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rba-13 retinablastoma-binding protein RBAP46
    like
    51(a)   I(9624662-9626157)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HAT26
    Subunit of the Hat1p-Hat2p histone acetyltransfera...
    37(a)
    1 → many
    V(47168-48373) YEL056W


    ENSEMBL Gene Tree for RBBP7 (if available)
    TreeFam Gene Tree for RBBP7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RBBP7 gene
    RFWD22  RBBP42  
    4 SIMAP similar genes for RBBP7 using alignment to 8 protein entries:     RBBP7_HUMAN (see all proteins):
    RBBP4    WSB1    POC1B    DAW1

    RBBP7 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RBBP7
    PGOHUM00000238099


    (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 RBBP7 (see all 413)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1387782281,2
    F--16863170(+) CCTTGT/ACCCTC 4 /G syn11Minor allele frequency- A:0.00NA 4544
    rs2007560391,2
    --16863189(+) ATGTCA/GTGACA 4 T M mis10--------
    rs1404230151,2
    --16863409(+) AATTCA/CGTATG 2 -- int10--------
    rs1504127871,2
    --16863495(+) GCATCA/GTTTAG 2 -- int10--------
    rs48285351,2
    C,F,A,H--16863589(+) ACTTGG/CTGTCA 2 -- int111Minor allele frequency- C:0.29NS EA WA NA CSA 430
    rs1428807741,2
    --16863684(+) CTCCAC/GTGTAT 2 -- int10--------
    rs1855487001,2
    --16863775(+) GGACGA/GAGCAC 2 -- int10--------
    rs1895234071,2
    --16863783(+) CACCAC/TATGGG 2 -- int10--------
    rs1808671061,2
    --16863887(+) TATTAC/TATTAT 2 -- int10--------
    rs59697281,2
    C,F,H--16864303(+) CAAGTA/GATACT 2 -- int119Minor allele frequency- G:0.37NS EA WA NA CSA 1988

    HapMap Linkage Disequilibrium report for RBBP7 (16857406 - 16888537 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RBBP7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv29438CNV Loss19812545
    nsv511654CNV Gain21212237
    esv259795OTHER Complex20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBBP7
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    (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: 300825    OMIM disorders: --

    15 diseases for RBBP7:    
    About MalaCards
    retinoblastoma    wilms tumor    dermatomyositis    eosinophilia
    non-hodgkin lymphoma    hodgkin's lymphoma    mental retardation    tonsillitis
    thyroiditis    breast cancer    lung cancer    hiv-1
    cerebritis    prostatitis    endotheliitis


    RBBP7 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for RBBP7 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 77.7 15 15682465 (2), 17201172 (2), 17927911 (1), 12767060 (1) (see all 11)
    wilms tumor 52.5 3 12767060 (1), 9765217 (1), 11433396 (1)
    tumors 0 3 11433396 (2), 12767060 (1)

    Genetic Association Database (GAD): RBBP7
    Human Genome Epidemiology (HuGE) Navigator: RBBP7 (3 documents)

    Export disorders for RBBP7 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 RBBP7 gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with RBBP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dual retinoblastoma-binding proteins with properties related to a negative regulator of ras in yeast. (PubMed id 7503932)1, 2, 3 Qian Y.-W. and Lee E.Y.-H.P. (J. Biol. Chem. 1995)
    2. 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)
    3. Analysis of the NuRD subunits reveals a histone deacetylase core complex and a connection with DNA methylation. (PubMed id 10444591)1, 2, 9 Zhang Y....Reinberg D. (Genes Dev. 1999)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Structural basis for the recognition of histone H4 by the histone- chaperone RbAp46. (PubMed id 18571423)1, 2 Murzina N.V.... Laue E.D. (Structure 2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. MBD3L1 is a transcriptional repressor that interacts with methyl-CpG- binding protein 2 (MBD2) and components of the NuRD complex. (PubMed id 15456747)1, 2 Jiang C.-L.... Pfeifer G.P. (J. Biol. Chem. 2004)
    8. Isolation of human NURF: a regulator of Engrailed gene expression. (PubMed id 14609955)1, 2 Barak O....Shiekhattar R. (EMBO J. 2003)
    9. The metastasis-associated proteins 1 and 2 form distinct protein complexes with histone deacetylase activity. (PubMed id 12920132)1, 2 Yao Y.-L. and Yang W.-M. (J. Biol. Chem. 2003)
    10. Role of the Sin3-histone deacetylase complex in growth regulation by the candidate tumor suppressor p33(ING1). (PubMed id 11784859)1, 2 Kuzmichev A.... Reinberg D. (Mol. Cell. Biol. 2002)

    (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: 5931 HGNC: 9890 AceView: RBBP7 Ensembl:ENSG00000102054 euGenes: HUgn5931
    ECgene: RBBP7 H-InvDB: RBBP7

    (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 RBBP7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBBP7 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 RBBP7 gene:
    Search GeneIP for patents involving RBBP7

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



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