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

NOP10 Gene

protein-coding   GIFtS: 54
GCID: GC15M034633

NOP10 Ribonucleoprotein

(Previous names: nucleolar protein family A, member 3 (H/ACA small nucleolar...)
(Previous symbol: NOLA3)
  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
NOP10 Ribonucleoprotein1 2     SnoRNP Protein NOP102 3
NOLA31 2 3 5     NOP10 Ribonucleoprotein Homolog (Yeast)1
Nucleolar Protein Family A, Member 3 (H/ACA Small Nucleolar RNPs)1 2     DKCB12
Homolog Of Yeast Nop10p1 2     NOP10P2
Nucleolar Protein 102 3     H/ACA Ribonucleoprotein Complex Subunit 32
Nucleolar Protein Family A Member 32 3     NOP10 Ribonucleoprotein Homolog2

External Ids:    HGNC: 143781   Entrez Gene: 555052   Ensembl: ENSG000001821177   OMIM: 6064715   UniProtKB: Q9NPE33   

Export aliases for NOP10 gene to outside databases

Previous GC identifers: GC15M032422 GC15M011497


(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 NOP10 Gene:
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved
in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA.
The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to
the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production
and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP
proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces
cerevisiae Nop10p. (provided by RefSeq, Jul 2008)

GeneCards Summary for NOP10 Gene: 
NOP10 (NOP10 ribonucleoprotein) is a protein-coding gene. Diseases associated with NOP10 include nop10-related dyskeratosis congenita, and dyskeratosis congenita autosomal recessive. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3
Function: Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar
ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the
isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA
can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May
also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase
reverse transcriptase (TERT) holoenzyme




(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_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NOP10 gene promoter:
         MyoD   FOXD1   Lmo2   AP-4   CUTL1   C/EBPalpha   GATA-2   PPAR-gamma1   SEF-1 (1)   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNOP10 promoter sequence
   Search SABiosciences Chromatin IP Primers for NOP10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOP10


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

Entrez Gene cytogenetic band: 15q14-q15   Ensembl cytogenetic band:  15q14   HGNC cytogenetic band: 15q14-q15

NOP10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NOP10 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M034633:  view genomic region     (about GC identifiers)

Start:
34,633,917 bp from pter      End:
34,635,378 bp from pter
Size:
1,462 bases      Orientation:
minus 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: NOP10_HUMAN, Q9NPE3 (See protein sequence)
Recommended Name: H/ACA ribonucleoprotein complex subunit 3  
Size: 64 amino acids; 7706 Da
Subunit: Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2,
GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a
stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core
via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of
modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The
complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific
interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs
interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is
mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of
the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1,
WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC)
Subcellular location: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies)

Explore the universe of human proteins at neXtProt for NOP10: NX_Q9NPE3

Explore proteomics data for NOP10 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NPE3

  • NOP10 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NOP10 Protein Expression
    REFSEQ proteins: NP_061118.1  
    ENSEMBL proteins: 
     ENSP00000332198   ENSP00000453475  

    Human Recombinant Protein Products for NOP10: 
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    OriGene Protein Over-expression Lysate for NOP10
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    Novus Biologicals NOP10 Protein
    Novus Biologicals NOP10 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0005732small nucleolar ribonucleoprotein complex TAS9843512
    GO:0015030Cajal body IEA--
    GO:0072588box H/ACA RNP complex IEA--

    NOP10 for ontologies           About GeneDecksing



    NOP10 Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007264 H/ACA_rnp_Nop10

    Graphical View of Domain Structure for InterPro Entry Q9NPE3

    ProtoNet protein and cluster: Q9NPE3

    1 Blocks protein domain: IPB007264 Nucleolar RNA-binding protein Nop10p

    UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3
    Similarity: Belongs to the NOP10 family


    NOP10 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: NOP10_HUMAN, Q9NPE3
    Function: Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar
    ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the
    isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA
    can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May
    also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase
    reverse transcriptase (TERT) holoenzyme

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16601202
    GO:0030515snoRNA binding IEA--
         
    NOP10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NOP10:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NOP10 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NOP10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NOP10 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NOP10 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NOP10
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NOP10
    SwitchGear 3'UTR luciferase reporter plasmidNOP10 3' UTR sequence
    Inhib. RNA
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    Clone
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    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NOP10
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                         Customized lentivirus expression plasmids for stable overexpression of NOP10 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOP10


    (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

    SuperPaths for NOP10 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for NOP10):
        Ribosome biogenesis in eukaryotes


    NOP10 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NOP10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/17 Interacting proteins for NOP10 (Q9NPE33 ENSP000003321984) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR48Q8TAF33, ENSP000003074914I2D: score=2 STRING: ENSP00000307491
    ARRB1P494073I2D: score=1 
    ARRB2P321213I2D: score=1 
    TNIP1Q150253I2D: score=1 
    DKC1ENSP000003585634STRING: ENSP00000358563
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001522pseudouridine synthesis NAS9843512
    GO:0006364rRNA processing IEA--
    GO:0042254ribosome biogenesis ----

    NOP10 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

    NOP10 for compounds           About GeneDecksing

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

    Browse Tocris compounds for NOP10

    2 Novoseek inferred chemical compound relationships for NOP10 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudouridine 86.1 4 17855403 (1), 17412831 (1), 16373493 (1), 19481523 (1)
    uridine 67.9 1 19481523 (1)

    Search CenterWatch for drugs/clinical trials and news about NOP10

    (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 NOP10 gene: 
    NM_018648.3  

    Unigene Cluster for NOP10:

    NOP10 ribonucleoprotein
    Hs.14317  [show with all ESTs]
    Unigene Representative Sequence: CF596384
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000328848(uc001zie.1) ENST00000557912
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NOP10
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    SwitchGear 3'UTR luciferase reporter plasmidNOP10 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NOP10
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NOP10
    Clone
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    OriGene clones in human, mouse for NOP10 (see all 8)
    OriGene ORF clones in mouse, rat for NOP10
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NOP10 (NM_018648)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NOP10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOP10
    Sirion Biotech Customized lentivirus for stable overexpression of NOP10 
                         Customized lentivirus expression plasmids for stable overexpression of NOP10 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NOP10
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NOP10
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NOP10

    Additional mRNA sequence: 

    AB043104.1 BC008886.2 BC063023.1 

    9 DOTS entries:

    DT.319408  DT.121064740  DT.91759139  DT.95273853  DT.86854773  DT.91759143  DT.92325594  DT.121064739 
    DT.97867251 

    24/335 AceView cDNA sequences (see all 335):

    BC008886 H83558 AA371607 D80979 BP431793 BM554889 H78197 AV710400 
    AA083998 BM798983 D80676 AA112121 BM766258 AI695124 H58463 AA293783 
    AA905911 BQ438156 BX119250 AI718796 AA022749 W84570 AA934691 AA157384 

    GeneLoc Exon Structure


    (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

    NOP10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCATCAC
    NOP10 Expression
    About this image


    See NOP10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NOP10

    SOURCE GeneReport for Unigene cluster: Hs.14317
        SABiosciences Expression via Pathway-Focused PCR Array including NOP10: 
              Telomeres & Telomerase in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOP10

    (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 NOP10 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nop101 , 5 NOP10 ribonucleoprotein homolog (yeast)5
    NOP10 ribonucleoprotein1
    94.27(n)1
    100(a)1
      2 (56.99 cM)5
    661811  NM_025403.31  NP_079679.11 
     1122619265 
    lizard
    (Anolis carolinensis)
    Reptilia NOP106
    Uncharacterized protein
    86(a)
    1 ↔ 1
    GL343220.1(845221-848247)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.80282 Xenopus laevis transcribed sequence with moderate similarity more 75.97(n)    48024189 
    zebrafish
    (Danio rerio)
    Actinopterygii nop101 NOP10 ribonucleoprotein homolog (yeast) 71.87(n)
    81.25(a)
      445391  NM_001003868.2  NP_001003868.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG76371 CG7637 61.9(n)
    66.67(a)
      36135  NM_136766.1  NP_610610.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nola-36
    Putative H/ACA ribonucleoprotein complex subunit 3...
    59(a)
    1 ↔ 1
    I(10179042-10179236)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP10(YHR072W-A)4 Constituent of small nucleolar ribonucleoprotein particles more   --   8(241664-241840) 856471  NP_058135.1 
    corn
    (Zea mays)
    Liliopsida Zm.168212 Zea mays PCO150529 mRNA sequence 81.32(n)    AY103703.1 


    ENSEMBL Gene Tree for NOP10 (if available)
    TreeFam Gene Tree for NOP10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NOP10 gene

    NOP10 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NOP10
    PGOHUM00000261147 PGOHUM00000244361


    (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

    10/104 SNPs in NOP10 are shown (see all 104)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0437254
    Dyskeratosis congenita, autosomal recessive, 1 (DKCB1)4--see VAR_0437252 R W mis40--------
    rs1219080921,2
    Cpathogenic114701246(-) CTGCTC/TGGTTC 2 R W mis10--------
    rs1817839001,2
    C--14702261(+) TGATCA/GCTTAT 1 -- ut510--------
    rs2012707931,2
    --14702286(+) AATTCA/GGTCCA 1 -- ut510--------
    rs1125563171,2
    C--14702294(+) CCACCG/ACTCAG 1 -- ut511Minor allele frequency- A:0.50NA 2
    rs21694801,2
    C,F,A,H--14702351(+) CCTGCA/GTAACC 1 -- us2k1 tfbs323Minor allele frequency- G:0.07NS EA NA CSA 2292
    rs1496066641,2
    --14702362(+) GGAAGC/TCTCTC 1 -- us2k10--------
    rs1395020711,2
    --14702365(+) AGTCTC/TTCTCT 1 -- us2k10--------
    rs765379721,2
    F--14702373(+) TCTCCT/CGGCAC 1 -- us2k11Minor allele frequency- C:0.01WA 118
    rs760295121,2
    C,F--14702375(+) TCCTGG/ACACTC 1 -- us2k11Minor allele frequency- A:0.01NA 120

    HapMap Linkage Disequilibrium report for NOP10 (34633917 - 34635378 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for NOP10:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv482995CNV Loss15286789
    nsv469547CNV Loss16826518
    nsv428303CNV Gain18775914
    esv33337CNV Gain+Loss17666407
    nsv471682CNV Gain+Loss15918152
    dgv732e1CNV Complex17122850
    dgv731e1CNV Complex17122850
    dgv730e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): NOP10

    Locus Specific Mutation Databases (LSDB): NOP10
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NOP10
    DNA2.0 Custom Variant and Variant Library Synthesis for NOP10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606471   
    OMIM disorders: 224230  
    UniProtKB/Swiss-Prot: NOP10_HUMAN, Q9NPE3
  • Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) [MIM:224230]: A rare multisystem disorder caused
    by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad
    of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features
    include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis
    among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary
    complications, or malignancy. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 7 diseases for NOP10:    About MalaCards
    nop10-related dyskeratosis congenita    dyskeratosis congenita autosomal recessive    dyskeratosis congenita    aplastic anemia
    leukoplakia    pulmonary fibrosis    anemia

    1 disease from the University of Copenhagen DISEASES database for NOP10:
    Dyskeratosis congenita

    NOP10 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for NOP10 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dyskeratosis congenita 94.9 4 18239083 (1), 18989882 (1), 20008900 (1), 18252230 (1)

    Human Genome Epidemiology (HuGE) Navigator: NOP10 (3 documents)

    Export disorders for NOP10 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 NOP10 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with NOP10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PubMed id 11074001)1, 2, 3, 9 Pogacic V.... Filipowicz W. (2000)
    2. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. (PubMed id 17507419)1, 2, 9 Walne A.J....Dokal I. (2007)
    3. hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase. (PubMed id 16601202)1, 2 Hoareau-Aveilla C....Henry Y. (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. (2004)
    5. Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. (PubMed id 15044956)1, 2 Wang C. and Meier U.T. (2004)
    6. Nhp2p and Nop10p are essential for the function of H/ACA snoRNPs. (PubMed id 9843512)1, 3 Henras A....Caizergues-Ferrer M. (1998)
    7. Effects of dyskeratosis congenita mutations in dysker in, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (PubMed id 20008900)1, 9 Trahan C....Dragon F. (2010)
    8. Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP. (PubMed id 19095616)1, 9 Trahan C. and Dragon F. (2009)
    9. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878)1, 9 Yamaguchi H.... Young N.S. (2005)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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
    Entrez Gene: 55505 HGNC: 14378 AceView: NOLA3 Ensembl:ENSG00000182117 euGenes: HUgn55505
    ECgene: NOP10 Kegg: 55505 H-InvDB: NOP10

    (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 NOP10 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NOP10 gene:
    Search GeneIP for patents involving NOP10

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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