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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RBBP6 Gene

protein-coding   GIFtS: 56
GCID: GC16P024458

Retinoblastoma Binding Protein 6

(Previous name: retinoblastoma-binding protein 6)
  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)
About This Section

Aliases
Retinoblastoma Binding Protein 61 2     MY0382
Retinoblastoma-Binding Protein 61 2 3     P2P-R2
Proliferation Potential-Related Protein1 2 3     SNAMA2
Protein P2P-R2 3     E3 Ubiquitin-Protein Ligase RBBP62
Retinoblastoma-Binding Q Protein 12 3     RB-Binding Q-Protein 12
PACT2 3     EC 6.3.2.-3
RBQ-12 3     P2PR3
P53-Associated Cellular Protein Of Testis2 3     RBQ13

External Ids:    HGNC: 98891   Entrez Gene: 59302   Ensembl: ENSG000001222577   OMIM: 6009385   UniProtKB: Q7Z6E93   

Export aliases for RBBP6 gene to outside databases

Previous GC identifers: GC16P023966 GC16P024666 GC16P024494 GC16P024518 GC16P024517 GC16P022641


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RBBP6 Gene:
The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB
suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity
of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple
alternatively spliced transcript variants that encode different isoforms have been found for this gene. (provided
by RefSeq, Jul 2008)

GeneCards Summary for RBBP6 Gene: 
RBBP6 (retinoblastoma binding protein 6) is a protein-coding gene. Diseases associated with RBBP6 include retinoblastoma, and esophageal cancer. GO annotations related to this gene include ubiquitin-protein ligase activity and nucleic acid binding.

UniProtKB/Swiss-Prot: RBBP6_HUMAN, Q7Z6E9
Function: E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the
proteasome. May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting
in increase of MDM2-mediated ubiquitination and degradation of p53/TP53; may function as negative regulator of
p53/TP53, leading to both apoptosis and cell growth

Gene Wiki entry for RBBP6 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBBP6 gene promoter:
         AP-1   ATF-2   c-Jun   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): RBBP6 promoter sequence
   Search SABiosciences Chromatin IP Primers for RBBP6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBBP6


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

Entrez Gene cytogenetic band: 16p12.2   Ensembl cytogenetic band:  16p12.1   HGNC cytogenetic band: 16p12.2

RBBP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBBP6 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P024458:  view genomic region     (about GC identifiers)

Start:
24,549,014 bp from pter      End:
24,584,184 bp from pter
Size:
35,171 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RBBP6_HUMAN, Q7Z6E9 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RBBP6  
Size: 1792 amino acids; 201564 Da
Subunit: Interacts with p53/TP53 and RB1 (By similarity). Interacts also with MDM2 and YBX1. Interacts with NEK6
Subcellular location: Nucleus, nucleolus. Chromosome. Cytoplasm, cytoskeleton, microtubule organizing center,
centrosome. Note=Colocalizes with mitotic chromosomes. Co-localizes with NEK6 in the centrosome
Sequence caution: Sequence=AAG43155.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAH63524.1;
Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAL05625.1;
Type=Frameshift; Positions=198; Sequence=AAL68925.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Sequence=BAB15600.1; Type=Erroneous initiation; Sequence=CAA59445.1; Type=Frameshift; Positions=198, 1048, 1098;
4 PDB 3D structures from and Proteopedia for RBBP6:
2C7H (3D)        2YSA (3D)        2YUR (3D)        3ZTG (3D)    
Secondary accessions: Q147T5 Q15290 Q6DKH4 Q6P4C2 Q6YNC9 Q7Z6E8 Q8N0V2 Q96PH3 Q9H3I8 Q9H5M5
Q9NPX4
Alternative splicing: 4 isoforms:  Q7Z6E9-1   Q7Z6E9-2   Q7Z6E9-3   Q7Z6E9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RBBP6: NX_Q7Z6E9

Explore proteomics data for RBBP6 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by NEK6
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z6E9

  • RBBP6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RBBP6 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_008841.2  NP_061173.1  NP_116015.2  

    ENSEMBL proteins: 
     ENSP00000456750   ENSP00000457716   ENSP00000460821   ENSP00000317872   ENSP00000390537  
     ENSP00000370427   ENSP00000316291  

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RBBP6 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex ----
    GO:0005634nucleus ----
    GO:0005694chromosome IEA--
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm IEA--

    RBBP6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR014891 DWNN_domain
     IPR001878 Znf_CCHC

    Graphical View of Domain Structure for InterPro Entry Q7Z6E9

    ProtoNet protein and cluster: Q7Z6E9

    3 Blocks protein domains:
    IPB001841 Zn-finger
    IPB001878 C2HC-type zinc-finger signature
    IPB003613 Zn-finger


    UniProtKB/Swiss-Prot: RBBP6_HUMAN, Q7Z6E9
    Similarity: Contains 1 CCHC-type zinc finger
    Similarity: Contains 1 DWNN domain
    Similarity: Contains 1 RING-type zinc finger


    RBBP6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBBP6_HUMAN, Q7Z6E9
    Function: E3 ubiquitin-protein ligase which promotes ubiquitination of YBX1, leading to its degradation by the
    proteasome. May play a role as a scaffold protein to promote the assembly of the p53/TP53-MDM2 complex, resulting
    in increase of MDM2-mediated ubiquitination and degradation of p53/TP53; may function as negative regulator of
    p53/TP53, leading to both apoptosis and cell growth

         Genatlas biochemistry entry for RBBP6:
    RB1 binding nuclear protein (140kDa)

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0004842ubiquitin-protein ligase activity IDA18851979
    GO:0005515protein binding IPI18624398
    GO:0008270zinc ion binding IEA--
         
    RBBP6 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for RBBP6:
     Decreased POU5F1-GFP protein e  G0/1 arrest  Increased G1 DNA content  Increased cell death in DLD-1  
     Increased cell size  Synthetic lethal with Ras 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbbp6):
     cellular  embryogenesis  growth/size  mortality/aging 

    RBBP6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rbbp6tm1Xya for RBBP6

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RBBP6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RBBP6

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    SwitchGear 3'UTR luciferase reporter plasmidRBBP6 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBBP6


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: RBBP6_HUMAN, Q7Z6E9
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBBP6

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

    5/49 Interacting proteins for RBBP6 (Q7Z6E91, 2, 3 ENSP000003178724) via UniProtKB, MINT, STRING, and/or I2D (see all 49)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRSF7Q166291, 3, ENSP000003259054EBI-2117026,EBI-398885 I2D: score=2 STRING: ENSP00000325905
    ZFYVE9O954052, 3MINT-62051 I2D: score=3 
    SMN1Q166373, ENSP000003700834I2D: score=2 STRING: ENSP00000370083
    SMN2Q166373, ENSP000003701194I2D: score=2 STRING: ENSP00000370119
    ANAPC16Q96DE53, ENSP000002993814I2D: score=2 STRING: ENSP00000299381
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination ----
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA18851979

    RBBP6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RBBP6

    Search CenterWatch for drugs/clinical trials and news about RBBP6

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RBBP6 gene (3 alternative transcripts): 
    NM_006910.4  NM_018703.3  NM_032626.5  

    Unigene Cluster for RBBP6:

    Retinoblastoma binding protein 6
    Hs.188553  [show with all ESTs]
    Unigene Representative Sequence: NM_006910
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564314 ENST00000567686 ENST00000568015 ENST00000568316 ENST00000319715(uc010vcb.1 uc002dmh.3 uc002dmi.3 uc010bxr.3)
    ENST00000452655(uc002dmg.3) ENST00000381039 ENST00000348022 ENST00000564726
    ENST00000562430(uc002dmk.3) ENST00000562683 ENST00000570185
    miRNA
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    8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate RBBP6 (see all 45):
    hsa-miR-142-5p hsa-miR-15a hsa-miR-4272 hsa-miR-25 hsa-miR-485-3p hsa-miR-519a hsa-miR-3171 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidRBBP6 3' UTR sequence
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    Additional mRNA sequence: 

    AB112074.1 AB112075.1 AF116625.1 AF352051.1 AK026954.1 AK303040.1 AL359564.1 AY072922.1 
    BC015318.1 BC029352.1 BC029649.2 BC030964.1 BC063524.1 BC073938.1 BC101139.2 BC101140.2 
    BC101141.2 BC101142.1 BC114353.1 BC114354.1 BC118667.1 BC139830.1 BX648661.1 X85133.1 

    24/28 DOTS entries (see all 28):

    DT.100821932  DT.95233345  DT.113675  DT.92446588  DT.97829576  DT.97845275  DT.91711090  DT.92446571 
    DT.75119167  DT.100821929  DT.414004  DT.120723069  DT.114782  DT.405577  DT.120723063  DT.100821931 
    DT.100821930  DT.410884  DT.92046161  DT.120723052  DT.120723017  DT.410885  DT.91692527  DT.91692528 

    24/413 AceView cDNA sequences (see all 413):

    CB160693 CA393015 NM_006910 AA806475 AW574814 BP339602 AI825622 BX648661 
    AV661215 CB130191 AU148436 BM786373 BQ232601 AA341890 BC029649 AW151490 
    BP872139 CA449280 CA848998 AA393186 AB112074 AA170839 BC015318 CA844316 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for RBBP6 (see all 14)    About this scheme

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

    ExUns: 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b
    SP1:  -           -                                                               
    SP2:  -           -                                   -                           
    SP3:  -           -                                   -                           
    SP4:  -     -     -     -     -     -     -     -     -     -     -               
    SP5:                                                                              


    ECgene alternative splicing isoforms for RBBP6

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RBBP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RBBP6 Expression
    About this image


    See RBBP6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBBP6

    SOURCE GeneReport for Unigene cluster: Hs.188553

    UniProtKB/Swiss-Prot: RBBP6_HUMAN, Q7Z6E9
    Tissue specificity: Highly expressed in the placenta and testis. Expressed at lower levels in the brain, heart,
    kidney, liver and lung. Overexpressed in esophageal cancer

        SABiosciences Expression via Pathway-Focused PCR Array including RBBP6: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBBP6

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RBBP6 gene from 10/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbbp61 , 5 retinoblastoma binding protein 61, 5 85.79(n)1
    88.81(a)1
      7 (67.42 cM)5
    196471  NM_011247.21  NP_035377.21 
     1229656865 
    chicken
    (Gallus gallus)
    Aves RBBP61 retinoblastoma binding protein 6 76.4(n)
    77.53(a)
      416569  XM_414870.2  XP_414870.2 
    lizard
    (Anolis carolinensis)
    Reptilia RBBP66
    Uncharacterized protein
    71(a)
    1 ↔ 1
    GL343883.1(23142-44692)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.341172 Xenopus laevis transcribed sequence with strong similarity more 82.14(n)    BJ614254.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.180392 Transcribed sequence with weak similarity to protein more 77.14(n)    BG737479.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta snama1 something that sticks like glue 41.64(n)
    31.12(a)
      37857  NM_138040.3  NP_611884.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-2141 Protein TAG-214 46.32(n)
    34.42(a)
      172720  NM_001037886.1  NP_001032975.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MPE1(YKL059C)4 Essential conserved subunit of CPF (cleavage and polyadenylation more   --   11(329443-328118) 853806  NP_012864.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G474301 DWNN domain, a CCHC-type zinc finger 46.78(n)
    36.13(a)
      834790  NM_124114.3  NP_199554.2 
    rice
    (Oryza sativa)
    Liliopsida Os10g04310001 hypothetical protein 49.53(n)
    35.55(a)
      4348695  NM_001071200.1  NP_001064665.2 


    ENSEMBL Gene Tree for RBBP6 (if available)
    TreeFam Gene Tree for RBBP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBBP6 gene
    2 SIMAP similar genes for RBBP6 using alignment to 5 protein entries:     RBBP6_HUMAN (see all proteins):
    TRIM5    RAD18

    RBBP6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RBBP6
    PGOHUM00000238849


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/775 SNPs in RBBP6 are shown (see all 775)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs778739131,2
    C,F--24548924(+) AATAGA/TCAACA 3 -- us2k11Minor allele frequency- T:0.09WA 118
    rs1115646781,2
    C--24548946(+) GACATC/-CCCCC 3 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1840485831,2
    --24549101(+) TTCGGA/TGTGAA 3 -- us2k10--------
    rs668281281,2
    C--24549554(+) CTATCT/CGCAAG 3 -- us2k15Minor allele frequency- C:0.23WA CSA NA EA 361
    rs802482081,2
    C,F--24549571(+) GAAGAA/GAAGAC 3 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1887295141,2
    C--24549775(+) CCTGTA/GAAATT 3 -- us2k10--------
    rs113118591,2
    C--24549795(+) GAGGA-/ACATGG 3 -- us2k10--------
    rs283619501,2
    C,F,H--24549817(+) ATAATA/GACTAT 3 -- us2k119Minor allele frequency- G:0.23NS EA NA WA CSA 2341
    rs1509041181,2
    C--24549915(+) ACTGAA/GGGGGT 3 -- us2k10--------
    rs1386910271,2
    --24549988(+) CATCCC/TCTTCT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for RBBP6 (24549014 - 24584184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RBBP6:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1769CNV Loss18451855

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600938    OMIM disorders: --

    6 diseases for RBBP6:    About MalaCards
    retinoblastoma    esophageal cancer    esophagitis    pancreatic cancer
    pancreatitis    lung cancer


    RBBP6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RBBP6

    Export disorders for RBBP6 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)
    About This Section

    PubMed articles for RBBP6 gene, integrated from 9 sources (see all 48):
    (articles sorted by number of sources associating them with RBBP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA sequence and chromosomal localization of a novel human protein, RBQ-1 (RBBP6), that binds to the retinoblastoma gene product. (PubMed id 8595913)1, 2, 3, 9 Sakai Y.... Taya Y. (1995)
    2. DWNN, a novel ubiquitin-like domain, implicates RBBP6 in mRNA processing and ubiquitin-like pathways. (PubMed id 16396680)1, 2, 3 Pugh D.J....Rees D.J. (2006)
    3. Proliferation potential-related protein, an ideal esophageal cancer antigen for immunotherapy, identified using complementary DNA microarray analysis. (PubMed id 15475430)1, 2, 9 Yoshitake Y.... Nishimura Y. (2004)
    4. Voxelwise genome-wide association study (vGWAS). (PubMed id 20171287)1, 4 Stein J.L....Thompson P. (2010)
    5. RBBP6 interacts with multifunctional protein YB-1 through its RING finger domain, leading to ubiquitination and proteosomal degradation of YB-1. (PubMed id 18851979)1, 2 Chibi M....Pugh D.J. (2008)
    6. PACT is a negative regulator of p53 and essential for cell growth and embryonic development. (PubMed id 17470788)1, 2 Li L....He F. (2007)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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)
    About This Section
    Entrez Gene: 5930 HGNC: 9889 AceView: RBBP6 Ensembl:ENSG00000122257 euGenes: HUgn5930
    ECgene: RBBP6 H-InvDB: RBBP6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RBBP6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBBP6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RBBP6 gene:
    Search GeneIP for patents involving RBBP6

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



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