Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



RRP8 Gene

protein-coding   GIFtS: 52
GCID: GC11M006577

Ribosomal RNA Processing 8, Methyltransferase, Homolog (Yeast)

(Previous name: KIAA0409)
(Previous symbol: KIAA0409)
  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

TryGeneCards Plus

Aliases
Ribosomal RNA Processing 8, Methyltransferase, Homolog (Yeast)1 2     Ribosomal RNA-Processing Protein 82
KIAA04091 2 3     RRP8 Methyltransferase Homolog2
Cerebral Protein 12 3     EC 2.1.1.-3
RRP8 Methyltransferase Homolog (S. Cerevisiae)1     NML3
nucleomethylin2     Nucleomethylin3

External Ids:    HGNC: 290301   Entrez Gene: 233782   Ensembl: ENSG000001322757   UniProtKB: O431593   

Export aliases for RRP8 gene to outside databases

Previous GC identifer: GC11M006280


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

TryGeneCards Plus

GeneCards Summary for RRP8 Gene:
RRP8 (ribosomal RNA processing 8, methyltransferase, homolog (yeast)) is a protein-coding gene. Diseases associated with RRP8 include bowen-conradi syndrome, and cerebritis. GO annotations related to this gene include S-adenosylmethionine-dependent methyltransferase activity and methylated histone residue binding.

UniProtKB/Swiss-Prot: RRP8_HUMAN, O43159
Function: Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates
silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes.
The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of
NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at
'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds
to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown

Gene Wiki entry for RRP8 (KIAA0409) 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the RRP8 gene promoter:
         CRE-BP1   ATF-2   STAT3   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RRP8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RRP8


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

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.4

RRP8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RRP8 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M006577:  view genomic region     (about GC identifiers)

Start:
6,616,305 bp from pter      End:
6,624,850 bp from pter
Size:
8,546 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, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: RRP8_HUMAN, O43159 (See protein sequence)
Recommended Name: Ribosomal RNA-processing protein 8  
Size: 456 amino acids; 50715 Da
Subunit: Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8
Sequence caution: Sequence=BAA23705.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for RRP8:
2ZFU (3D)    
Secondary accessions: Q7KZ78 Q9BVM6

Explore the universe of human proteins at neXtProt for RRP8: NX_O43159

Explore proteomics data for RRP8 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RRP8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056139.1  
    ENSEMBL proteins: 
     ENSP00000254605   ENSP00000436960   ENSP00000436246   ENSP00000435873  
    Reactome Protein details: O43159

    RRP8 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for RRP8
    OriGene Protein Over-expression Lysate for RRP8
    OriGene MassSpec for RRP8
    OriGene Custom Protein Services for RRP8
    GenScript Custom Purified and Recombinant Proteins Services for RRP8
    Novus Biologicals RRP8 Protein
    Novus Biologicals RRP8 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RRP8

    RRP8 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for RRP8 
    OriGene Antibodies for RRP8
    OriGene Custom Antibody Services for RRP8
    Novus Biologicals RRP8 Antibodies
    Abcam antibodies for RRP8
    Cloud-Clone Corp. Antibodies for RRP8
    Search ThermoFisher Antibodies for RRP8
    LSBio Antibodies in human, mouse, rat for RRP8

    RRP8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RRP8
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RRP8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RRP8
    Cloud-Clone Corp. CLIAs for RRP8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR023576 UbiE/COQ5_MeTrFase_CS
     IPR007823 Methyltransferase-rel

    Graphical View of Domain Structure for InterPro Entry O43159

    ProtoNet protein and cluster: O43159

    UniProtKB/Swiss-Prot: RRP8_HUMAN, O43159
    Similarity: Belongs to the methyltransferase superfamily. RRP8 family


    RRP8 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RRP8_HUMAN, O43159
    Function: Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates
    silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes.
    The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of
    NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at
    'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds
    to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown

         Enzyme Number (IUBMB): EC 2.1.1.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18485871
    GO:0008168methyltransferase activity ----
    GO:0008757S-adenosylmethionine-dependent methyltransferase activity TAS18485871
    GO:0035064methylated histone residue binding IDA18485871
    GO:0044822poly(A) RNA binding IDA--
         
    RRP8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RRP8:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RRP8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RRP8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RRP8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RRP8

    miRNA
    Products:
        
    miRTarBase miRNAs that target RRP8:
    hsa-let-7b-5p (MIRT005242)

    Block miRNA regulation of human, mouse, rat RRP8 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate RRP8:
    hsa-miR-4303
    SwitchGear 3'UTR luciferase reporter plasmidRRP8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RRP8
    Predesigned siRNA for gene silencing in human, mouse, rat RRP8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RRP8

    Clone
    Products:
         
    OriGene clones in human, mouse for RRP8 (see all 6)
    OriGene ORF clones in mouse, rat for RRP8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RRP8 (NM_015324)
    Sino Biological Human cDNA Clone for RRP8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RRP8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RRP8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RRP8
    Browse ESI BIO Cell Lines and PureStem Progenitors for RRP8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RRP8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    RRP8_HUMAN, O43159: Nucleus, nucleolus. Note=Localizes at rDNA locus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane4
    cytosol3
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005677chromatin silencing complex IDA18485871
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    RRP8 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).
    About This Section

    TryGeneCards Plus

    SuperPaths for RRP8 About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for RRP8
        Chromatin Regulation / Acetylation


    1 Reactome Pathway for RRP8
        SIRT1 negatively regulates rRNA Expression



    RRP8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RRP8
    Interactions:

        Search GeneGlobe Interaction Network for RRP8

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

    Selected Interacting proteins for RRP8 (O431591, 3 ENSP000002546054) via UniProtKB, MINT, STRING, and/or I2D (see all 117)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT1Q96EB61, 3, ENSP000002120154EBI-2008793,EBI-1802965 I2D: score=3 STRING: ENSP00000212015
    SUV39H1O434631, 3, ENSP000003658774EBI-2008793,EBI-349968 I2D: score=3 STRING: ENSP00000365877
    KIAA0020Q153973, ENSP000003809824I2D: score=2 STRING: ENSP00000380982
    BYSLQ138953, ENSP000002303404I2D: score=1 STRING: ENSP00000230340
    FKBP1AP629423, ENSP000003711384I2D: score=1 STRING: ENSP00000371138
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000183chromatin silencing at rDNA IDA18485871
    GO:0006351transcription, DNA-templated IEA--
    GO:0006364rRNA processing IEA--
    GO:0008152metabolic process ----
    GO:0016568chromatin modification IEA--

    RRP8 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RRP8



    (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,
    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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for RRP8 gene: 
    NM_015324.3  

    Unigene Cluster for RRP8:

    Ribosomal RNA processing 8, methyltransferase, homolog (yeast)
    Hs.652255  [show with all ESTs]
    Unigene Representative Sequence: AB007869
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254605(uc001med.3) ENST00000534343 ENST00000526352 ENST00000533907
    ENST00000530762
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RRP8 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate RRP8:
    hsa-miR-4303
    SwitchGear 3'UTR luciferase reporter plasmidRRP8 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RRP8
    Predesigned siRNA for gene silencing in human, mouse, rat RRP8
    Clone
    Products:
         
    OriGene clones in human, mouse for RRP8 (see all 6)
    OriGene ORF clones in mouse, rat for RRP8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RRP8 (NM_015324)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RRP8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RRP8
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RRP8
    OriGene qSTAR qPCR primer pairs in human, mouse for RRP8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RRP8
      QuantiTect SYBR Green Assays in human, mouse, rat RRP8
      QuantiFast Probe-based Assays in human, mouse, rat RRP8

    Additional mRNA sequence: 

    AB007869.1 AK091817.1 BC001071.2 D87060.1 

    16 DOTS entries:

    DT.114795  DT.95294662  DT.100785203  DT.92441708  DT.120709576  DT.100785199  DT.87046008  DT.120709473 
    DT.120709543  DT.40128878  DT.91692217  DT.92441711  DT.100738911  DT.120709359  DT.95085372  DT.95294660 

    Selected AceView cDNA sequences (see all 433):

    BF969390 AA923431 BU734215 BX442948 AI689878 BQ613808 AL539807 BM781911 
    AI370778 BC012088 AW793577 BQ072896 AI337083 AW470062 BU932042 BX089762 
    BU188116 BE612595 BQ957754 CR619123 BM801225 BM984948 BM559236 AI468305 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RRP8    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                                  
    SP2:                                                                  
    SP3:              -                                                   
    SP4:                                                                  


    ECgene alternative splicing isoforms for RRP8

    (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

    TryGeneCards Plus

    RRP8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCTACAAG
    RRP8 Expression
    About this image

    RRP8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RRP8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652255
        Custom PCR Arrays for RRP8
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RRP8
    OriGene qSTAR qPCR primer pairs in human, mouse for RRP8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RRP8
    QuantiTect SYBR Green Assays in human, mouse, rat RRP8
    QuantiFast Probe-based Assays in human, mouse, rat RRP8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RRP8

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RRP8 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rrp81 , 5 ribosomal RNA processing 8, methyltransferase, homolog more1, 5 80.88(n)1
    76.26(a)1
      7 (55.97 cM)5
    1018671  NM_025897.21  NP_080173.11 
     1057322075 
    chicken
    (Gallus gallus)
    Aves RRP81 ribosomal RNA processing 8, methyltransferase, homolog more 66.04(n)
    66.98(a)
      425225  XM_423009.4  XP_423009.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.163272 Xenopus laevis transcribed sequence with weak similarity more 75.36(n)    CF283925.1 
    zebrafish
    (Danio rerio)
    Actinopterygii RRP86
    ribosomal RNA processing 8, methyltransferase, hom...
    32(a)
    1 ↔ 1
    15(14240138-14249279) ENSDARG00000071652
    fruit fly
    (Drosophila melanogaster)
    Insecta CG71376
    --
    34(a)
    1 ↔ 1
    2R(15114835-15116118)
    worm
    (Caenorhabditis elegans)
    Secernentea T07A9.86
    Protein T07A9.8 (T07A9.8) mRNA, complete cds
    37(a)
    1 ↔ 1
    IV(396543-399097) WBGene00020296
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RRP8(YDR083W)4 Nucleolar protein involved in rRNA processing, pre-rRNA more   --   4(612073-613251) 851656  NP_010368.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G405301 AT5G40530 50(n)
    48.08(a)
      834051  NM_123417.3  NP_198869.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g05939001 Os02g0593900 51.24(n)
    47.6(a)
      4329847  NM_001053838.1  NP_001047303.1 


    ENSEMBL Gene Tree for RRP8 (if available)
    TreeFam Gene Tree for RRP8 (if available)

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

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus

    Selected SNPs for RRP8 (see all 123)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1921702891,2
    --6620656(+) GCCAAA/GAATTA 1 -- int10--------
    rs1856961791,2
    --6620722(+) TCCCAC/TAGGAC 1 -- int10--------
    rs79288521,2
    C,F,H--6620756(+) TGCTAT/CATGGT 1 -- int1 ese312Minor allele frequency- C:0.03NS EA NA CSA 1264
    rs1430040601,2
    --6620876(+) AGATGC/TTGGTG 1 -- int10--------
    rs1178038601,2
    C,F--6621004(+) AGACAG/TATCAG 1 -- int11Minor allele frequency- T:0.03EA 120
    rs1482069941,2
    --6621009(+) GATCAA/GATGAC 1 -- int10--------
    rs28901,2
    C,F,H--6621225(+) TTCAGT/CAGAGC 1 -- ut31 ese310Minor allele frequency- C:0.08MN NS EA NA 724
    rs1420052451,2
    --6621275(+) GTCCAC/TCAGGA 1 -- ut310--------
    rs618758671,2
    C,F--6621369(+) AAGATC/TCAGAG 1 -- ut313Minor allele frequency- T:0.01NA EU 1445
    rs1886599761,2
    C--6621396(+) GAGACA/GTGGCT 2 R C mis10--------

    HapMap Linkage Disequilibrium report for RRP8 (6616305 - 6624850 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RRP8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv996362CNV Deletion20482838
    nsv819272CNV Loss19587683
    nsv896971CNV Loss21882294
    nsv825755CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RRP8
    DNA2.0 Custom Variant and Variant Library Synthesis for RRP8

    (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

    TryGeneCards Plus
    4 diseases for RRP8:    
    About MalaCards
    bowen-conradi syndrome    cerebritis    malaria    hepatitis

    1 disease from the University of Copenhagen DISEASES database for RRP8:
    Bowen-Conradi syndrome

    RRP8 for disorders           About GeneDecksing


    Export disorders for RRP8 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

    TryGeneCards Plus

    PubMed articles for RRP8 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with RRP8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1997)
    2. Epigenetic control of rDNA loci in response to intracellular energy status. (PubMed id 18485871)1, 2 Murayama A.... Yanagisawa J. (Cell 2008)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. 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. (Genome Res. 2004)
    5. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    6. Directed proteomic analysis of the human nucleolus. (PubMed id 11790298)1, 2 Andersen J.S.... Lamond A.I. (Curr. Biol. 2002)
    7. Regulation of SirT1-nucleomethylin binding by rRNA coordinates ribosome biogenesis with nutrient availability. (PubMed id 23897426)1 Yang L....Chen J. (Mol. Cell. Biol. 2013)
    8. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 23378 HGNC: 29030 AceView: TAF10andKIAA0409 Ensembl:ENSG00000132275 euGenes: HUgn23378
    ECgene: RRP8 H-InvDB: RRP8

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0409

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for RRP8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for RRP8 gene:
    Search GeneIP for patents involving RRP8

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for RRP8   OriGene RNAi products in human, mouse, rat for RRP8  
     OriGene qPCR primer pairs and template standards for RRP8   OriGene Protein Over-expression Lysate for RRP8  
     OriGene MassSpec something-or-other for RRP8   OriGene clones in human, mouse for RRP8  
     OriGene qSTAR qPCR primer pairs in human, mouse for RRP8   OriGene Purified Protein for RRP8  
     OriGene ORF clones in mouse, rat for RRP8   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RRP8   OriGene Custom Protein Services for RRP8  

     
     
     Block miRNA regulation of human, mouse, rat RRP8 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RRP8
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RRP8 Predesigned siRNA for gene silencing in human, mouse, rat RRP8
     QuantiFast Probe-based Assays in human, mouse, rat RRP8 QuantiTect SYBR Green Assays in human, mouse, rat RRP8
     Custom PCR Arrays for RRP8 Search Chromatin IP Primers for RRP8
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RRP8  Search GeneGlobe Interaction Network for RRP8
     Regulatory tfbs in RRP8 promoter
     GenScript Custom Purified and Recombinant Proteins Services for RRP8 GenScript cDNA clones with any tag delivered in your preferred vector for RRP8
     GenScript Custom Assay Services for RRP8 GenScript Custom overexpressing Cell Line Services for RRP8
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for RRP8 

     Search Tocris compounds for RRP8
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for RRP8
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     RRP8 antibodies
     RRP8 proteins
     RRP8 lysates
     Antibodies for RRP8
     See all of Abcam's Antibodies, Kits and Proteins for RRP8
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for RRP8
     Antibodies for RRP8
     ELISAs for RRP8
     CLIAs for RRP8



     Browse ESI BIO Cell Lines and PureStem Progenitors for RRP8
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RRP8
     SwitchGear 3'UTR luciferase reporter plasmids for RRP8
     Browse SwitchGear Promoter luciferase reporter plasmids for RRP8
     Search ThermoFisher Antibodies for RRP8
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RRP8
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RRP8
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RRP8
     LSBio Antibodies in human, mouse, rat for RRP8
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RRP8 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4