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RRP36 Gene

protein-coding   GIFtS: 47
GCID: GC06P043009

Ribosomal RNA Processing 36 Homolog (S. Cerevisiae)

(Previous name: chromosome 6 open reading frame 153)
(Previous symbol: C6orf153)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ribosomal RNA Processing 36 Homolog (S. Cerevisiae)1 2
C6orf1531 2 3 5
Chromosome 6 Open Reading Frame 1531
dJ20C7.42
Ribosomal RNA Processing Protein 36 Homolog2
RNA Processing Factor2

External Ids:    HGNC: 213741   Entrez Gene: 887452   Ensembl: ENSG000001245417   OMIM: 6134755   UniProtKB: Q96EU63   

Export aliases for RRP36 gene to outside databases

Previous GC identifers: GC06P042993 GC06P042706 GC06P042995 GC06P043000 GC06P043002


(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 RRP36 Gene:
RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et
al., 2010 (PubMed 20038530)).(supplied by OMIM, Jul 2010)

GeneCards Summary for RRP36 Gene:
RRP36 (ribosomal RNA processing 36 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with RRP36 include meningioma, and malaria.

UniProtKB/Swiss-Prot: RRP36_HUMAN, Q96EU6
Function: Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for RRP36
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RRP36

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RRP36


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

RRP36 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RRP36 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P043009:  view genomic region     (about GC identifiers)

Start:
42,989,383 bp from pter      End:
43,001,894 bp from pter
Size:
12,512 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RRP36_HUMAN, Q96EU6 (See protein sequence)
Recommended Name: Ribosomal RNA processing protein 36 homolog  
Size: 259 amino acids; 29823 Da
Miscellaneous: Meningioma antigen
Sequence caution: Sequence=AAH06293.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q9BRF6 Q9P0C8
Alternative splicing: 2 isoforms:  Q96EU6-1   Q96EU6-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RRP36: NX_Q96EU6

Explore proteomics data for RRP36 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys225
  • Modification sites at PhosphoSitePlus

  • See RRP36 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149103.1  
    ENSEMBL proteins: 
     ENSP00000244496   ENSP00000475391  

    RRP36 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for RRP36


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009292 DUF947

    Graphical View of Domain Structure for InterPro Entry Q96EU6

    ProtoNet protein and cluster: Q96EU6

    UniProtKB/Swiss-Prot: RRP36_HUMAN, Q96EU6
    Similarity: Belongs to the RRP36 family


    RRP36 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RRP36_HUMAN, Q96EU6
    Function: Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0044822poly(A) RNA binding IDA--
         
    RRP36 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RRP36
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    miRNA
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    miRTarBase miRNAs that target RRP36:
    hsa-mir-16-5p (MIRT031805), hsa-mir-30a-5p (MIRT005193), hsa-mir-1 (MIRT023882)

    Block miRNA regulation of human, mouse, rat RRP36 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate RRP36:
    hsa-miR-33a* hsa-miR-942 hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidRRP36 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RRP36
    Predesigned siRNA for gene silencing in human, mouse, rat RRP36

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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
    RRP36_HUMAN, Q96EU6: Nucleus, nucleolus. Note=Concentrated in the fibrillar region of the nucleolus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--

    RRP36 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RRP36
    Interactions:

        Search GeneGlobe Interaction Network for RRP36

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

    Selected Interacting proteins for RRP36 (ENSP000002444964) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EBNA1BP2ENSP000002360514STRING: ENSP00000236051
    NOL6ENSP000002979904STRING: ENSP00000297990
    FBLENSP000002218014STRING: ENSP00000221801
    KRR1ENSP000002292144STRING: ENSP00000229214
    MRTO4ENSP000003643204STRING: ENSP00000364320
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IDA--
    GO:0042274ribosomal small subunit biogenesis IDA--

    RRP36 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RRP36



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RRP36 gene: 
    NM_033112.2  

    Unigene Cluster for RRP36:

    Ribosomal RNA processing 36 homolog (S. cerevisiae)
    Hs.309231  [show with all ESTs]
    Unigene Representative Sequence: BU928938
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000244496(uc003otp.1) ENST00000607394 ENST00000607555
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate RRP36:
    hsa-miR-33a* hsa-miR-942 hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidRRP36 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RRP36
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      QuantiTect SYBR Green Assays in human, mouse, rat RRP36
      QuantiFast Probe-based Assays in human, mouse, rat RRP36

    Additional mRNA sequence: 

    AF161371.1 AK313816.1 BC006293.2 BC011933.2 

    11 DOTS entries:

    DT.412515  DT.99927311  DT.100782292  DT.99974729  DT.97846685  DT.75149688  DT.405375  DT.86847534 
    DT.91853291  DT.100782291  DT.95212687 

    Selected AceView cDNA sequences (see all 215):

    BM662339 BE791545 BM691718 BU733482 BE645469 BQ671559 CB216561 BQ070670 
    CA843218 AA858325 BM914802 CA843735 BM916844 BU632039 BM450918 BM721088 
    AW245088 BU189686 BU522018 AI797387 BQ673052 CA503329 AA741460 BF196941 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RRP36    About this scheme

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


    ECgene alternative splicing isoforms for RRP36

    (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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    RRP36 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTCTGTTC
    RRP36 Expression
    About this image

    RRP36 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RRP36 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.309231
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RRP36 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rrp361 , 5 ribosomal RNA processing 36 homolog (S. cerevisiae)1, 5 83.41(n)1
    85.78(a)1
      17 (22.90 cM)5
    2248231  NM_144857.11  NP_659106.11 
     466674585 
    chicken
    (Gallus gallus)
    Aves LOC1008586991 ribosomal RNA processing protein 36 homolog 59.82(n)
    55.8(a)
      100858699  XM_003640890.2  XP_003640938.2 
    lizard
    (Anolis carolinensis)
    Reptilia RRP366
    ribosomal RNA processing 36 homolog (S. cerevisiae...
    59(a)
    1 ↔ 1
    2(144604379-144609881)
    zebrafish
    (Danio rerio)
    Actinopterygii rrp361 ribosomal RNA processing 36 homolog (S. cerevisiae) 58.41(n)
    49.56(a)
      321183  NM_001079944.1  NP_001073413.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG84611 CG8461 49.53(n)
    38.32(a)
      41758  NM_142110.4  NP_650367.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T22H9.16
    Protein T22H9.1
    14(a)
    1 ↔ 1
    V(359766-363668) WBGene00020705
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G126501 AT1G12650 48.48(n)
    43.03(a)
      837821  NM_001035954.3  NP_001031031.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g05252001 Os09g0525200 47.12(n)
    37.02(a)
      4347627  NM_001070252.1  NP_001063717.1 


    ENSEMBL Gene Tree for RRP36 (if available)
    TreeFam Gene Tree for RRP36 (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 RRP36 (see all 214)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1915961211,2
    --42989632(+) GCAGAC/GGCTAC 1 -- int10--------
    rs38336611,2
    C--42989668(-) CCCCCC/-ACTTT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1841174731,2
    --42989744(+) CGGCGA/GTGGGG 1 -- int10--------
    rs1872630431,2
    --42989858(+) TTTTTC/TTTTGA 1 -- int10--------
    rs1436831381,2
    --42989920(+) CAAGCG/TCCGCC 1 -- int10--------
    rs1921950501,2
    --42989965(+) CAGAGC/TAGCTG 1 -- int10--------
    rs1855120381,2
    --42990052(+) AGGATG/TGTCTC 1 -- int10--------
    rs1457790171,2
    --42990087(+) CGCCTC/TAGCCT 1 -- int10--------
    rs1115776581,2
    C--42990321(+) GATGG-/GTTT  
            
    GTTTA
    1 -- int11Minor allele frequency- GTTT:0.00CSA 2
    rs30779521,2
    C,A--42990325(+) ggtttA/Gtttat 1 -- int12Minor allele frequency- G:0.25WA NA 4

    HapMap Linkage Disequilibrium report for RRP36 (42989383 - 43001894 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RRP36:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv462930CNV Loss19166990
    nsv885839CNV Loss21882294
    nsv462927CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
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    (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: 613475    OMIM disorders: --

    2 diseases for RRP36:    
    About MalaCards
    meningioma    malaria


    RRP36 for disorders           About GeneDecksing


    Export disorders for RRP36 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 RRP36 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with RRP36)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolutionarily conserved function of RRP36 in early cleavages of the pre-rRNA and production of the 40S ribosomal subunit. (PubMed id 20038530)1, 2, 3 Gerus M.... Henras A.K. (Mol. Cell. Biol. 2010)
    2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    3. Complex humoral immune response against a benign tumor: frequent antibody response against specific antigens as diagnostic targets. (PubMed id 15983380)1, 2 Comtesse N.... Meese E. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    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. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    10. Nucleolar proteome dynamics. (PubMed id 15635413)1 Andersen J.S.... Mann M. (Nature 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)
    About This Section

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    Entrez Gene: 88745 HGNC: 21374 AceView: C6orf153 Ensembl:ENSG00000124541 euGenes: HUgn88745
    ECgene: RRP36 H-InvDB: RRP36

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RRP36 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RRP36 gene:
    Search GeneIP for patents involving RRP36

    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)
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