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RBBP5 Gene

protein-coding   GIFtS: 57
GCID: GC01M205055

Retinoblastoma Binding Protein 5

(Previous name: retinoblastoma-binding protein 5)
  See RBBP5-related disease
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 51 2     RBBP-52 3
RBQ32 3 5     Homolog (S. Cerevisiae)1
Retinoblastoma-Binding Protein 51 2     Set1c WD40 Repeat Protein1
SWD11 2     SWD1, Set1c WD40 Repeat Protein, Homolog2
Retinoblastoma-Binding Protein RBQ-32 3     

External Ids:    HGNC: 98881   Entrez Gene: 59292   Ensembl: ENSG000001172227   OMIM: 6006975   UniProtKB: Q152913   

Export aliases for RBBP5 gene to outside databases

Previous GC identifers: GC01M202782 GC01M200517 GC01M201415 GC01M202233 GC01M201787 GC01M203321 GC01M176220


(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 RBBP5 Gene:
This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of
WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell
proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the
E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have
been described for this gene. (provided by RefSeq, Jul 2010)

GeneCards Summary for RBBP5 Gene:
RBBP5 (retinoblastoma binding protein 5) is a protein-coding gene. Diseases associated with RBBP5 include retinoblastoma. GO annotations related to this gene include histone methyltransferase activity (H3-K4 specific) and transcription regulatory region DNA binding.

UniProtKB/Swiss-Prot: RBBP5_HUMAN, Q15291
Function: In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along
the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including
that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and
trimethylation at 'Lys-4' of histone H3. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic
transcriptional activation

Gene Wiki entry for RBBP5 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 at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBBP5 gene promoter:
         GR   RFX1   GR-beta   Lmo2   CUTL1   XBP-1   POU6F1 (c2)   Evi-1   NRF-2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBBP5 promoter sequence
   Search Chromatin IP Primers for RBBP5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBBP5


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

Entrez Gene cytogenetic band: 1q32   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32

RBBP5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBBP5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M205055:  view genomic region     (about GC identifiers)

Start:
205,055,270 bp from pter      End:
205,091,150 bp from pter
Size:
35,881 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RBBP5_HUMAN, Q15291 (See protein sequence)
Recommended Name: Retinoblastoma-binding protein 5  
Size: 538 amino acids; 59153 Da
Subunit: Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5,
WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Core component of several methyltransferase-containing
complexes including MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7. Each complex is at least composed
of ASH2L, RBBP5, WDR5, DPY30, one or more specific histone methyltransferases (KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3
and KMT2B/MLL4), and the facultative components PAGR1, BAP18, CHD8, E2F6, HCFC1, HCFC2, HSP70, INO80C, KDM6A,
KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, MYST1/MOF, NCOA6, PAXIP1/PTIP, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A,
RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9, TEX10 and alpha- and beta-tubulin. Interacts with WDR5 and
ASH2L; the interaction is direct. Interacts with WDR82 and SETD1A. Part of a complex composed at least of ASCL2,
C11orf30/EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone
H3-specific methyltransferase activity (By similarity)
1 PDB 3D structure from and Proteopedia for RBBP5:
3P4F (3D)    
Secondary accessions: A8K272 Q7Z6D8 Q8NDZ7
Alternative splicing: 2 isoforms:  Q15291-1   Q15291-2   (Contains a phosphoserine at position 490)

Explore the universe of human proteins at neXtProt for RBBP5: NX_Q15291

Explore proteomics data for RBBP5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys244
  • Modification sites at PhosphoSitePlus

  • See RBBP5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001180201.1  NP_001180202.1  NP_005048.2  

    ENSEMBL proteins: 
     ENSP00000264515   ENSP00000356132  
    Reactome Protein details: Q15291

    RBBP5 Human Recombinant Protein Products:

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    antibodies-online proteins for RBBP5 (5 products) 

     
    antibodies-online peptides for RBBP5

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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

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q15291

    ProtoNet protein and cluster: Q15291

    UniProtKB/Swiss-Prot: RBBP5_HUMAN, Q15291
    Similarity: Contains 6 WD repeats


    Find genes that share domains with RBBP5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBBP5_HUMAN, Q15291
    Function: In embryonic stem (ES) cells, plays a crucial role in the differentiation potential, particularly along
    the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci, including
    that mediated by retinoic acid (By similarity). As part of the MLL1/MLL complex, involved in mono-, di- and
    trimethylation at 'Lys-4' of histone H3. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic
    transcriptional activation

         Genatlas biochemistry entry for RBBP5:
    RB1 binding nuclear protein 5,with homology to TF2B

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12482968
    GO:0035064methylated histone residue binding IDA15960975
    GO:0042800contributes to histone methyltransferase activity (H3-K4 specific) IDA17355966
    GO:0044212transcription regulatory region DNA binding IDA16603732
         
    Find genes that share ontologies with RBBP5           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RBBP5

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    miRTarBase miRNAs that target RBBP5:
    hsa-mir-1 (MIRT023722), hsa-mir-122-5p (MIRT023318), hsa-mir-92b-3p (MIRT040532), hsa-mir-193b-3p (MIRT016367), hsa-mir-128-3p (MIRT021974)

    Block miRNA regulation of human, mouse, rat RBBP5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBBP5 (see all 56):
    hsa-miR-4291 hsa-miR-513a-5p hsa-let-7a-2* hsa-miR-488 hsa-miR-766 hsa-miR-570 hsa-miR-3142 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidRBBP5 3' UTR sequence
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    (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
    RBBP5_HUMAN, Q15291: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0035097histone methyltransferase complex IPI14992727
    GO:0048188Set1C/COMPASS complex IDA17998332
    GO:0071339MLL1 complex IDA15960975

    Find genes that share ontologies with RBBP5           About GenesLikeMe


    (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 RBBP5 About    
    See pathways by source

    SuperPathContained pathways About
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with RBBP5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RBBP5
        Chromatin Regulation / Acetylation

    2 Reactome Pathways for RBBP5
        deactivation of the beta-catenin transactivating complex
    formation of the beta-catenin:TCF transactivating complex


        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBBP5: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RBBP5

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

    Selected Interacting proteins for RBBP5 (Q152911, 2, 3 ENSP000002645154) via UniProtKB, MINT, STRING, and/or I2D (see all 1024)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232575P074372, 3, ENSP000004100714MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000410071
    ENSG00000183311P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000224156P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000227739P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    ENSG00000229684P074372, 3MINT-7945693 MINT-7947479 I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006974cellular response to DNA damage stimulus IDA17500065
    GO:0043627response to estrogen IDA16603732
    GO:0051568histone H3-K4 methylation IDA17355966

    Find genes that share ontologies with RBBP5           About GenesLikeMe



    (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
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    Browse Tocris compounds for RBBP5



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RBBP5 gene (3 alternative transcripts): 
    NM_001193272.1  NM_001193273.1  NM_005057.3  

    Unigene Cluster for RBBP5:

    Retinoblastoma binding protein 5
    Hs.519230  [show with all ESTs]
    Unigene Representative Sequence: NM_005057
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264515(uc010prd.2 uc010pre.2 uc001hbu.2) ENST00000367164(uc001hbv.2)
    ENST00000484379
    miRNA
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    hsa-miR-4291 hsa-miR-513a-5p hsa-let-7a-2* hsa-miR-488 hsa-miR-766 hsa-miR-570 hsa-miR-3142 hsa-miR-629*
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    Additional mRNA sequence: 

    AK290137.1 AK296978.1 AK297540.1 BC037284.2 BC053856.1 BC075059.2 BC075060.2 X85134.1 

    6 DOTS entries:

    DT.100814660  DT.91793814  DT.101972968  DT.121330413  DT.99993441  DT.121330352 

    Selected AceView cDNA sequences (see all 100):

    BM452621 BG177847 BP357482 BP871752 AL119169 CD518019 BC075060 BM457775 
    BU430770 BX475888 CF138358 BC075059 AA488959 BC053856 BM841893 BX096879 
    CD559083 AA489300 BE378702 AW505316 BU603171 BU165684 CB125817 CF619440 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RBBP5 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c
    SP1:                                                                                                                                                      
    SP2:                                                                                                                                -                     
    SP3:                                                        -                                                                                             
    SP4:              -     -     -                                                                                                                           
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for RBBP5

    (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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    RBBP5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RBBP5 Expression
    About this image

    RBBP5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBBP5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.519230

    UniProtKB/Swiss-Prot: RBBP5_HUMAN, Q15291
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RBBP5: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat
              Polycomb & Trithorax Complexes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBBP5

    (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 RBBP5 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbbp51 , 5 retinoblastoma binding protein 51, 5 92.63(n)1
    99.07(a)1
      1 (57.24 cM)5
    2134641  NM_172517.21  NP_766105.21 
     1324773675 
    chicken
    (Gallus gallus)
    Aves RBBP51 retinoblastoma binding protein 5 83.52(n)
    97.58(a)
      419826  NM_001030914.2  NP_001026085.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBBP56
    retinoblastoma binding protein 5
    90(a)
    1 ↔ 1
    4(116301007-116333210)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.71002 Xenopus laevis transcribed sequence with strong similarity to protein spQ15291 (H.sapiens) RBB5_HUMAN Retinoblastoma-binding protein 5 (RBBP-5) (Retinoblastoma-binding protein RBQ-3) less 78.36(n)    BX847136.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc560782 similar to retinoblastoma binding protein 5 74.28(n)   393215  BC047822.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64343
    Rbbp51
    Rbbp51 71(a)
    (best of 2)3
    60.59(n)1
    68.53(a)1
      77B43
    402391  NM_140952.31  NP_649209.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F21H12.11 , 3 F21H12.11 41(a)3
    53.55(n)1
    44.5(a)1
      II(6097788-6101835)3
    1740191  NM_062821.81  NP_495222.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SWD1(YAR003W)4
    SWD11
    Subunit of the COMPASS (Set1C) complex, which methylates histone H3 on lysine 4 and is required in transcriptional silencing near telomeres; WD40 beta propeller superfamily member with similarity to mammalian Rbbp7 less4
    SWD11
    46.23(n)1
    33.79(a)1
      1(155005-156285)4
    8512651, 4  NP_009403.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G210601 AT3G21060 51.07(n)
    41.72(a)
      821658  NM_113000.5  NP_188743.3 
    rice
    (Oryza sativa)
    Liliopsida Os03g02079001 Os03g0207900 48.87(n)
    41.56(a)
      4332006  NM_001055863.1  NP_001049328.1 


    ENSEMBL Gene Tree for RBBP5 (if available)
    TreeFam Gene Tree for RBBP5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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)
    About This Section

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    Selected SNPs for RBBP5 (see all 806)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1473272441,2
    C--205055629(+) CCAAGC/TGCTGG 3 -- ut310--------
    rs1129078341,2
    C,F--205055656(+) CACCAC/TGCCCA 3 -- ut311Minor allele frequency- T:0.50WA 2
    rs1915883851,2
    --205055872(+) ATTTTA/CTCAGT 3 -- ut310--------
    rs75373221,2
    C,F,A,H--205055949(+) CACACA/GTGGAA 3 -- ut31 ese333Minor allele frequency- G:0.24NA NS EA WA CSA 2924
    rs66601501,2
    H--205056087(+) CTGGTC/TTAACT 3 -- ut31 ese34Minor allele frequency- T:0.00NS EA 420
    rs1824145471,2
    --205056096(+) CTCATA/GACAGT 3 -- ut310--------
    rs1871482341,2
    --205056122(+) TAAGAA/GAAAAG 3 -- ut310--------
    rs1911993451,2
    --205056205(+) TGGTTC/TTAAAT 3 -- ut310--------
    rs66603421,2
    H--205056247(+) GTGCTC/TTACTT 3 -- ut314Minor allele frequency- T:0.00NS EA 420
    rs112403531,2
    C,F,A,H--205056301(+) TACCTA/GTAGGA 3 -- ut31 ese321Minor allele frequency- G:0.23NA NS EA 2366

    HapMap Linkage Disequilibrium report for RBBP5 (205055270 - 205091150 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RBBP5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv819953CNV Loss19587683
    nsv468016CNV Loss19166990

    Human Gene Mutation Database (HGMD): RBBP5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBBP5
    DNA2.0 Custom Variant and Variant Library Synthesis for RBBP5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600697    OMIM disorders: --

    1 disease for RBBP5:    
    About MalaCards
    retinoblastoma


    Find genes that share disorders with RBBP5           About GenesLikeMe

    Genetic Association Database (GAD): RBBP5

    Export disorders for RBBP5 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 RBBP5 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with RBBP5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a human protein that binds to the retinoblastoma protein and chromosomal mapping. (PubMed id 7558034)1, 2, 3 Saijo M.... Taya Y. (Genomics 1995)
    2. Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation. (PubMed id 19131338)1, 2 Garapaty S....Samuels H.H. (J. Biol. Chem. 2009)
    3. On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex. (PubMed id 19556245)1, 2 Patel A.... Cosgrove M.S. (J. Biol. Chem. 2009)
    4. Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes. (PubMed id 17998332)1, 2 Lee J.H. and Skalnik D.G. (Mol. Cell. Biol. 2008)
    5. Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PubMed id 18838538)1, 2 Wu M....Shilatifard A. (Mol. Cell. Biol. 2008)
    6. Identification and characterization of the human Set1B histone H3- Lys4 methyltransferase complex. (PubMed id 17355966)1, 2 Lee J.-H.... Skalnik D.G. (J. Biol. Chem. 2007)
    7. PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. (PubMed id 17500065)1, 2 Cho Y.-W.... Ge K. (J. Biol. Chem. 2007)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex. (PubMed id 16253997)1, 2 Lee J.-H. and Skalnik D.G. (J. Biol. Chem. 2005)
    10. Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PubMed id 15960975)1, 2 Dou Y.... Roeder R.G. (Cell 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 5929 HGNC: 9888 AceView: RBBP5 Ensembl:ENSG00000117222 euGenes: HUgn5929
    ECgene: RBBP5 H-InvDB: RBBP5

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for RBBP5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBBP5 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 RBBP5 gene:
    Search GeneIP for patents involving RBBP5

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



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