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RPP30 Gene

protein-coding   GIFtS: 61
GCID: GC10P092631

Ribonuclease P/MRP 30kDa Subunit

  See RPP30-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Ribonuclease P/MRP 30kDa Subunit1 2     Ribonuclease P Protein Subunit P302
RNase P Subunit 22 3     EC 3.1.26.53
RNaseP Protein P302 3     RNASEP23
TSG152     

External Ids:    HGNC: 176881   Entrez Gene: 105562   Ensembl: ENSG000001486887   OMIM: 6061155   UniProtKB: P783463   
ORGUL members:         

Export aliases for RPP30 gene to outside databases

Previous GC identifers: GC10P091512 GC10P091852 GC10P092762 GC10P092295 GC10P092621 GC10P086260


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RPP30 Gene:
RPP30 (ribonuclease P/MRP 30kDa subunit) is a protein-coding gene. Diseases associated with RPP30 include microphthalmia with linear skin defects syndrome. GO annotations related to this gene include ribonuclease P activity.

UniProtKB/Swiss-Prot: RPP30_HUMAN, P78346
Function: Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their
5'-ends

Gene Wiki entry for RPP30 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_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPP30 gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RPP30 promoter sequence
   Search Chromatin IP Primers for RPP30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPP30


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

Entrez Gene cytogenetic band: 10q23.31   Ensembl cytogenetic band:  10q23.31   HGNC cytogenetic band: 10q23.32-q23.33

RPP30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPP30 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P092631:  view genomic region     (about GC identifiers)

Start:
92,631,473 bp from pter      End:
92,668,312 bp from pter
Size:
36,840 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: RPP30_HUMAN, P78346 (See protein sequence)
Recommended Name: Ribonuclease P protein subunit p30  
Size: 268 amino acids; 29321 Da
Subunit: RNase P consists of an RNA moiety and at least 8 protein subunits; POP1, RPP14, RPP20/POP7, RPP25,
RPP29/POP4, RPP30, RPP38 and RPP40
Miscellaneous: Autoantibodies against RPP30 are found in sera from scleroderma patients
Secondary accessions: B2R799 E9PB02
Alternative splicing: 2 isoforms:  P78346-1   P78346-2   (No experimental confirmation available. Ref.3 (AK225532) sequence is in conflict in position: 291:K->R)

Explore the universe of human proteins at neXtProt for RPP30: NX_P78346

Explore proteomics data for RPP30 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys138
  • Modification sites at PhosphoSitePlus

  • See RPP30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001098016.1  NP_006404.1  

    ENSEMBL proteins: 
     ENSP00000360768   ENSP00000277882   ENSP00000407972   ENSP00000389182  

    RPP30 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for RPP30
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    Novus Biologicals RPP30 Proteins
    Novus Biologicals RPP30 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for RPP30
    Cloud-Clone Corp. Proteins for RPP30

     
    Search eBioscience for Proteins for RPP30 

     
    antibodies-online proteins for RPP30 (14 products) 

     
    antibodies-online peptides for RPP30

    RPP30 Antibody Products:

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    antibodies-online antibodies for RPP30 (8 products) 

    RPP30 Assay Products:

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    antibodies-online kits for RPP30 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR016195 Pol/histidinol_Pase-like
     IPR002738 RNase_P_p30

    Graphical View of Domain Structure for InterPro Entry P78346

    ProtoNet protein and cluster: P78346

    1 Blocks protein domain: IPB002738 RNase P subunit p30

    UniProtKB/Swiss-Prot: RPP30_HUMAN, P78346
    Similarity: Belongs to the eukaryotic/archaeal RNase P protein component 3 family


    Find genes that share domains with RPP30           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: RPP30_HUMAN, P78346
    Function: Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their
    5'-ends
    Catalytic activity: Endonucleolytic cleavage of RNA, removing 5'-extranucleotides from tRNA precursor

         Enzyme Number (IUBMB): EC 3.1.26.51

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004526ribonuclease P activity IEA--
    GO:0004540ribonuclease activity ----
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with RPP30           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for RPP30:
     G0/1 arrest  Increased G1 DNA content  Increased cell transformation  Increased homologous recombina 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for RPP30

    miRNA
    Products:
        
    miRTarBase miRNAs that target RPP30:
    hsa-mir-615-3p (MIRT039974), hsa-mir-106b-5p (MIRT044349), hsa-mir-15a-5p (MIRT051319), hsa-mir-324-5p (MIRT043167)

    Block miRNA regulation of human, mouse, rat RPP30 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RPP30 (see all 15):
    hsa-miR-3688-3p hsa-miR-4263 hsa-miR-548e hsa-miR-944 hsa-miR-507 hsa-miR-4267 hsa-miR-664 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidRPP30 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RPP30
    Predesigned siRNA for gene silencing in human, mouse, rat RPP30

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): RPP30 (NM_006413)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPP30
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPP30

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    Browse ESI BIO Cell Lines and PureStem Progenitors for RPP30 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPP30


    (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
    RPP30_HUMAN, P78346: Nucleus, nucleolus (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS9630247
    GO:0005655nucleolar ribonuclease P complex TAS9630247

    Find genes that share ontologies with RPP30           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 RPP30 About    
    See pathways by source

    SuperPathContained pathways About
    1RNA transport
    RNA transport
    2Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes


    Find genes that share SuperPaths with RPP30           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for RPP30):
        Ribosome biogenesis in eukaryotes
    RNA transport

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPP30
    Interactions:

        GeneGlobe Interaction Network for RPP30

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for RPP30 (P783463 ENSP000003891824) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPP21Q9H6333, ENSP000004038334I2D: score=1 STRING: ENSP00000403833
    ENSG00000239865Q9H6333I2D: score=1 
    ENSG00000239927Q9H6333I2D: score=1 
    ENSG00000241779Q9H6333I2D: score=1 
    ENSG00000241863Q9H6333I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008033tRNA processing IEA--
    GO:0090501RNA phosphodiester bond hydrolysis TAS9630247
    GO:0090502RNA phosphodiester bond hydrolysis, endonucleolytic TAS9630247

    Find genes that share ontologies with RPP30           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RPP30



    (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 RPP30 gene (2 alternative transcripts): 
    NM_001104546.1  NM_006413.4  

    Unigene Cluster for RPP30:

    Ribonuclease P/MRP 30kDa subunit
    Hs.139120  [show with all ESTs]
    Unigene Representative Sequence: NM_001104546
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371703(uc009xtx.3) ENST00000487998(uc010qnj.2) ENST00000277882
    ENST00000414836 ENST00000466462 ENST00000480406 ENST00000489806 ENST00000479678
    ENST00000470933 ENST00000413330(uc001khd.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RPP30 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RPP30 (see all 15):
    hsa-miR-3688-3p hsa-miR-4263 hsa-miR-548e hsa-miR-944 hsa-miR-507 hsa-miR-4267 hsa-miR-664 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidRPP30 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RPP30
    Predesigned siRNA for gene silencing in human, mouse, rat RPP30
    Clone
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    OriGene clones in human, mouse for RPP30 (see all 12)
    OriGene ORF clones in mouse, rat for RPP30
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RPP30 (NM_006413)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPP30
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPP30
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RPP30
    OriGene qSTAR qPCR primer pairs in human, mouse for RPP30
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPP30
      QuantiTect SYBR Green Assays in human, mouse, rat RPP30
      QuantiFast Probe-based Assays in human, mouse, rat RPP30

    Additional mRNA sequence: 

    AK095810.1 AK225532.1 AK296196.1 AK312900.1 AL833628.1 BC006991.1 BC044601.1 U77665.1 

    13 DOTS entries:

    DT.445622  DT.97792649  DT.40132060  DT.95090988  DT.75156434  DT.97832982  DT.121258062  DT.75107717 
    DT.95090967  DT.97858674  DT.100792003  DT.121258059  DT.91643347 

    Selected AceView cDNA sequences (see all 239):

    BU076211 AA455201 AW613721 AK095810 BP334771 BM979524 CA422071 CA311959 
    CR610035 CA866348 AI123222 BG742276 AA291373 AA845471 AA361621 BU859758 
    BG566583 BU156117 AA179321 BE018525 BM453442 BU737046 AA403300 AA291527 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RPP30 (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for RPP30

    (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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    RPP30 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RPP30 Expression
    About this image


    RPP30 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    RPP30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPP30 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.139120
        Custom PCR Arrays for RPP30
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RPP30
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    QuantiTect SYBR Green Assays in human, mouse, rat RPP30
    QuantiFast Probe-based Assays in human, mouse, rat RPP30
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPP30

    (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 RPP30 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpp301 , 5 ribonuclease P/MRP 30 subunit (human)5
    ribonuclease P/MRP 30 subunit1
    88.68(n)1
    90.19(a)1
      19 (30.41 cM)5
    543641  NM_019428.31  NP_062301.31 
     360837165 
    chicken
    (Gallus gallus)
    Aves RPP301 ribonuclease P/MRP 30kDa subunit 72.98(n)
    74.62(a)
      423795  XM_421667.4  XP_421667.2 
    lizard
    (Anolis carolinensis)
    Reptilia RPP306
    ribonuclease P/MRP 30kDa subunit
    69(a)
    1 ↔ 1
    GL343219.1(667722-703964)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.247692 Xenopus laevis transcribed sequence with moderate similarity more 74.4(n)    BJ616177.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.285862 Transcribed sequence with weak similarity to protein more 70.44(n)    57087108 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rpp301 RNaseP protein p30 42.39(n)
    32.76(a)
      44392  NM_001272879.1  NP_001259808.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H35B03.26
    Protein H35B03.2, isoform a
    16(a)
    1 ↔ 1
    IV(5729420-5732636) WBGene00019264
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPP1(YHR062C)4
    RPP11
    Subunit of both RNase MRP and nuclear RNase P; RNase more4
    RPP11
    41.51(n)1
    30.56(a)1
      8(223758-222877)4
    8564591, 4  NP_011929.11, 4 


    ENSEMBL Gene Tree for RPP30 (if available)
    TreeFam Gene Tree for RPP30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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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)
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    Selected SNPs for RPP30 (see all 663)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1809077021,2
    --92629742(+) AACTGA/TTTGGT 2 -- us2k10--------
    rs1859138211,2
    --92630019(+) TATGTA/GTAATT 2 -- us2k10--------
    rs1146414021,2
    F--92630028(+) TTACAA/GTGTGT 2 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1379691531,2
    C--92630084(+) CACCAA/CACATT 2 -- us2k10--------
    rs2015786701,2
    C--92630120(+) TGTTAC/TGGTCA 2 -- us2k10--------
    rs1903892171,2
    --92630127(+) GTCATA/TGGTGA 2 -- us2k10--------
    rs107859751,2
    C,F,A,H--92630243(+) ACTCCT/CACTTA 2 -- us2k121Minor allele frequency- C:0.22NS EA NA WA CSA 1214
    rs1179133441,2
    F--92630311(+) AAGAGA/TATTGC 2 -- us2k11Minor allele frequency- T:0.04EA 120
    rs1494774711,2
    C--92630314(+) AGAATC/TGCATG 2 -- us2k10--------
    rs111863421,2
    C,F,A--92630523(+) GTCCAC/TCCTGG 2 -- us2k114Minor allele frequency- T:0.28NA WA CSA EA 377

    HapMap Linkage Disequilibrium report for RPP30 (92631473 - 92668312 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RPP30:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831945CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPP30
    DNA2.0 Custom Variant and Variant Library Synthesis for RPP30

    (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: 606115    OMIM disorders: --

    1 disease for RPP30:    
    About MalaCards
    microphthalmia with linear skin defects syndrome


    Find genes that share disorders with RPP30           About GenesLikeMe

    Genetic Association Database (GAD): RPP30
    Human Genome Epidemiology (HuGE) Navigator: RPP30 (1 document)

    Export disorders for RPP30 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 RPP30 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with RPP30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of two scleroderma autoimmune antigens that copurify with human ribonuclease P. (PubMed id 9037013)1, 2, 3, 9 Eder P.S.... Altman S. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Rpp1, an essential protein subunit of nuclear RNase P required for processing of precursor tRNA and 35S precursor rRNA in Saccharomyces cerevisiae. (PubMed id 9308968)1, 3, 9 Stolc V. and Altman S. (amp 1997)
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    8. Autoantigenic properties of some protein subunits of catalytically active complexes of human ribonuclease P. (PubMed id 9630247)1, 9 Jarrous N.... Altman S. (RNA 1998)
    9. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (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: 10556 HGNC: 17688 AceView: RPP30 Ensembl:ENSG00000148688 euGenes: HUgn10556
    ECgene: RPP30 Kegg: 10556 H-InvDB: RPP30

    (According to HUGE)
    About This Section

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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 RPP30 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for RPP30 gene:
    Search GeneIP for patents involving RPP30

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



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