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NOP56 Gene

protein-coding   GIFtS: 62
GCID: GC20P002736

NOP56 Ribonucleoprotein

(Previous names: nucleolar protein 5A (56kD with KKE/D repeat), nucleolar...)
(Previous symbol: NOL5A)
  See NOP56-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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Aliases
NOP56 Ribonucleoprotein1 2     Nucleolar Protein 5A (56kD With KKE/D Repeat)1
NOL5A1 2 3     Spinocerebellar Ataxia 361
Nucleolar Protein 5A (56kDa With KKE/D Repeat)1 2     NOP56 Ribonucleoprotein Homolog2
SCA362 5     Nucleolar Protein 562
NOP56 Ribonucleoprotein Homolog (Yeast)1     Nucleolar Protein 5A3

External Ids:    HGNC: 159111   Entrez Gene: 105282   Ensembl: ENSG000001013617   OMIM: 6141545   UniProtKB: O005673   

Export aliases for NOP56 gene to outside databases

Previous GC identifers: GC20P002606 GC20P002611 GC20P002618 GC20P002636 GC20P002646 GC20P002656 GC20P002670 GC20P002681 GC20P002689 GC20P002698 GC20P002708 GC20P002723


(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 NOP56 Gene:
Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin.
Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein
encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Multiple transcript
variants encoding several different isoforms have been found for this gene, but the full-length nature of most of
them has not been determined. (provided by RefSeq, Jan 2009)

GeneCards Summary for NOP56 Gene:
NOP56 (NOP56 ribonucleoprotein) is a protein-coding gene. Diseases associated with NOP56 include spinocerebellar ataxia 36. GO annotations related to this gene include snoRNA binding and RNA binding.

UniProtKB/Swiss-Prot: NOP56_HUMAN, O00567
Function: Involved in the early to middle stages of 60S ribosomal subunit biogenesis

Gene Wiki entry for NOP56 (NOL5A) 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_000020.10  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the NOP56 gene promoter:
         Pax-6   GATA-1   AREB6   HEN1   MZF-1   S8   IRF-2   COMP1   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNOP56 promoter sequence
   Search Chromatin IP Primers for NOP56

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NOP56


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

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

NOP56 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NOP56 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P002736:  view genomic region     (about GC identifiers)

Start:
2,632,791 bp from pter      End:
2,639,039 bp from pter
Size:
6,249 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: NOP56_HUMAN, O00567 (See protein sequence)
Recommended Name: Nucleolar protein 56  
Size: 594 amino acids; 66050 Da
Subunit: Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal
proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly
interacts with TCOF1 in an RNA-independent manner. Interacts with NOP1 and NOP58
Sequence caution: Sequence=CAA72789.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q2M3T6 Q9NQ05

Explore the universe of human proteins at neXtProt for NOP56: NX_O00567

Explore proteomics data for NOP56 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys288, Lys320, Lys333, Lys375, Lys396
  • Modification sites at PhosphoSitePlus

  • See NOP56 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006383.2  
    ENSEMBL proteins: 
     ENSP00000370589   ENSP00000388497   ENSP00000434317   ENSP00000403199  
    Reactome Protein details: O00567

    NOP56 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for NOP56

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR002687 Nop_dom
     IPR012974 NOP5_N
     IPR012976 NOSIC

    Graphical View of Domain Structure for InterPro Entry O00567

    ProtoNet protein and cluster: O00567

    3 Blocks protein domains:
    IPB002687 Pre-mRNA processing ribonucleoprotein
    IPB012974 NOP5
    IPB012976 NOSIC


    UniProtKB/Swiss-Prot: NOP56_HUMAN, O00567
    Similarity: Belongs to the NOP5/NOP56 family
    Similarity: Contains 1 Nop domain


    Find genes that share domains with NOP56           About GenesLikeMe


    (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, 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: NOP56_HUMAN, O00567
    Function: Involved in the early to middle stages of 60S ribosomal subunit biogenesis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding TAS9372940
    GO:0005515protein binding IPI17636026
    GO:0030515snoRNA binding IDA17636026
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with NOP56           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for NOP56:
     Nuclear 40S maturation defects  Nucleolar pre-40S maturation d  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NOP56
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NOP56

    miRNA
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    hsa-mir-31-5p (MIRT049889), hsa-mir-24-3p (MIRT030362)

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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
    NOP56_HUMAN, O00567: Nucleus, nucleolus. Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005732small nucleolar ribonucleoprotein complex IDA17636026
    GO:0005737cytoplasm IEA--
    GO:0031428box C/D snoRNP complex NAS17636026
    GO:0070761pre-snoRNP complex IDA17636026

    Find genes that share ontologies with NOP56           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 NOP56 About    
    See pathways by source

    SuperPathContained pathways About
    1Protein folding
    Chaperonin-mediated protein folding0.91
    Association of TriC/CCT with target proteins during biosynthesis0.58
    Protein folding0.91
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    3Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes


    Find genes that share SuperPaths with NOP56           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for NOP56
        Association of TriC/CCT with target proteins during biosynthesis


    1 Kegg Pathway  (Kegg details for NOP56):
        Ribosome biogenesis in eukaryotes

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NOP56
    Interactions:

        Search GeneGlobe Interaction Network for NOP56

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

    Selected Interacting proteins for NOP56 (O005672, 3 ENSP000003705894) via UniProtKB, MINT, STRING, and/or I2D (see all 529)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing TAS9372940
    GO:0008219cell death IEA--

    Find genes that share ontologies with NOP56           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 NOP56



    (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 NOP56 gene: 
    NM_006392.3  

    Unigene Cluster for NOP56:

    NOP56 ribonucleoprotein
    Hs.376064  [show with all ESTs]
    Unigene Representative Sequence: BX641071
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000329276(uc010zpy.2 uc002wgh.3 uc002wgi.3) ENST00000494697
    ENST00000470143 ENST00000469588 ENST00000445139 ENST00000460258 ENST00000496775
    ENST00000480992 ENST00000484998 ENST00000467196 ENST00000415272 ENST00000492135
    ENST00000466447 ENST00000480447 ENST00000490753 ENST00000471023 ENST00000462630
    ENST00000467857
    miRNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOP56
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      QuantiTect SYBR Green Assays in human, mouse, rat NOP56
      QuantiFast Probe-based Assays in human, mouse, rat NOP56

    Additional mRNA sequence: 

    AK021907.1 AK292721.1 BC004937.1 BC018421.1 BC035369.1 BC104791.1 BC104793.1 BX641071.1 
    BX647439.1 BX647513.1 NR_027700.2 Y12065.1 

    Selected DOTS entries (see all 37):

    DT.97857666  DT.450054  DT.95251178  DT.120797756  DT.101985383  DT.95083089  DT.97808334  DT.95083094 
    DT.100867394  DT.91767226  DT.120797703  DT.97862567  DT.91767219  DT.100867393  DT.95292005  DT.100867399 
    DT.100039282  DT.100867400  DT.120797810  DT.120797843  DT.100867397  DT.120797695  DT.91767189  DT.91767215 

    Selected AceView cDNA sequences (see all 897):

    AI287720 AA226947 AW264826 BM845880 BE796327 X96656 AA614039 BM807085 
    BM449556 W86266 BM973031 H98955 NM_006392 AW954504 AA609807 BP431269 
    BM773233 AA588338 BU850209 AA639574 AA075702 BQ440941 BX641071 BQ070963 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NOP56 (see all 28)    About this scheme

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

    ExUns: 10e ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b · 20c · 20d
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                            -     -     -     -                                                                                             


    ECgene alternative splicing isoforms for NOP56

    (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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    NOP56 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGAAGCAA
    NOP56 Expression
    About this image


    NOP56 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
    NOP56 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NOP56 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.376064
        Custom PCR Arrays for NOP56
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    In Situ
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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 NOP56 gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nop561 , 5 NOP56 ribonucleoprotein homolog (yeast)5
    NOP56 ribonucleoprotein1
    86.39(n)1
    92.16(a)1
      2 (63.20 cM)5
    671341  NM_024193.21  NP_077155.21 
     1302744305 
    chicken
    (Gallus gallus)
    Aves NOP561 NOP56 ribonucleoprotein homolog (yeast) 74.7(n)
    81.33(a)
      426574  NM_001031388.1  NP_001026559.1 
    lizard
    (Anolis carolinensis)
    Reptilia NOP566
    NOP56 ribonucleoprotein
    69(a)
    1 ↔ 1
    GL343574.1(161151-176636)
    African clawed frog
    (Xenopus laevis)
    Amphibia XNop562 XNop56 protein 76.06(n)    AJ311840.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nol5a2 nucleolar protein 5A 75.65(n)   394196  BC056732.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nop561 Nop56 65.13(n)
    67.21(a)
      42633  NM_142783.2  NP_651040.3 
    worm
    (Caenorhabditis elegans)
    Secernentea K07C5.41 K07C5.4 57.91(n)
    60.23(a)
      179442  NM_073259.7  NP_505660.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP56(YLR197W)4
    NOP561
    Essential evolutionarily-conserved nucleolar protein more4
    NOP561
    53.98(n)1
    55.22(a)1
      12(546097-547611)4
    8508941, 4  NP_013298.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NOP561 NOP56 60.82(n)
    59.48(a)
      842063  NM_104489.3  NP_176007.1 
    rice
    (Oryza sativa)
    Liliopsida AK069305.12   -- 75.57(n)    AK069305.1 


    ENSEMBL Gene Tree for NOP56 (if available)
    TreeFam Gene Tree for NOP56 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NOP56 gene
    2 SIMAP similar genes for NOP56 using alignment to 6 protein entries:     NOP56_HUMAN (see all proteins):
    NOP58    PRPF31

    Find genes that share paralogs with NOP56           About GenesLikeMe


    3 Pseudogenes.org Pseudogenes for NOP56
    PGOHUM00000258682 PGOHUM00000260120 PGOHUM00000236415


    (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 NOP56 (see all 348)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs43655371,2
    C,F,A,H--2578595(+) TTTTAG/ATGTTC 2 -- us2k112Minor allele frequency- A:0.43NA WA CSA EA 376
    rs43655381,2
    C,F,A--2578628(+) CAAGCA/GTTGGT 2 -- us2k112Minor allele frequency- G:0.41NA WA CSA EA 376
    rs1486457611,2
    --2578634(+) TTGGTA/TATCTC 2 -- us2k10--------
    rs1412576521,2
    --2578650(+) CAGAAA/GCACTT 2 -- us2k10--------
    rs797291721,2
    F--2578665(+) TCAGCC/TATCTC 2 -- us2k12Minor allele frequency- T:0.02CSA WA 120
    rs42964981,2
    C,F,A,H--2578672(+) TCTCTC/GTAAGT 2 -- us2k123Minor allele frequency- G:0.40NS EA NA WA CSA 2345
    rs42964991,2
    C,A,H--2578790(+) TCTGAC/TTTAAC 2 -- us2k1 tfbs310Minor allele frequency- T:0.09NA WA CSA EA 370
    rs42892621,2
    C,F,A,H--2578811(+) GTGTTT/CATATA 2 -- us2k19Minor allele frequency- C:0.43NA WA CSA EA 369
    rs1462556131,2
    --2578865(+) TCTATA/GTATGT 2 -- us2k10--------
    rs43655391,2
    C,F,A,H--2578918(+) CTCTAT/AGCAAC 2 -- us2k123Minor allele frequency- A:0.11NS EA NA WA CSA 2240

    HapMap Linkage Disequilibrium report for NOP56 (2632791 - 2639039 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NOP56:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv458852CNV Loss19166990
    nsv470535CNV Gain18288195

    Human Gene Mutation Database (HGMD): NOP56
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NOP56
    DNA2.0 Custom Variant and Variant Library Synthesis for NOP56

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614154   
    OMIM disorders: 614153  
    UniProtKB/Swiss-Prot: NOP56_HUMAN, O00567
  • Spinocerebellar ataxia 36 (SCA36) [MIM:614153]: A form of spinocerebellar ataxia, a clinically and
    genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and
    often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable
    involvement of the brainstem and spinal cord. SCA36 is characterized by complicated clinical features, with
    ataxia as the first symptom, followed by characteristic late-onset involvement of the motor neuron system. Ataxic
    symptoms, such as gait and truncal instability, ataxic dysarthria, and uncoordinated limbs, start in late forties
    to fifties. Characteristically, affected individuals exhibit tongue atrophy with fasciculation. Progression of
    motor neuron involvement is typically limited to the tongue and main proximal skeletal muscles in both upper and
    lower extremities. Note=The disease is caused by mutations affecting the gene represented in this entry. Caused
    by large hexanucleotide CGCCTG repeat expansions within intron 1. These expansions induce RNA foci and sequester
    the RNA-binding protein SRSF2. In addition, the transcription of MIR1292, a microRNA gene located just 19 bp 3'
    of the GGCCTG repeat, is significantly decreased

  • 1 disease for NOP56:    
    About MalaCards
    spinocerebellar ataxia 36

    1 disease from the University of Copenhagen DISEASES database for NOP56:
    Spinocerebellar ataxia

    Find genes that share disorders with NOP56           About GenesLikeMe

    1 Novoseek inferred disease relationship for NOP56 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    u4atac 94.1 1 17412961 (1)


    Export disorders for NOP56 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 NOP56 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with NOP56)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. (PubMed id 21683323)1, 2, 3 Kobayashi H.... Koizumi A. (Am. J. Hum. Genet. 2011)
    2. Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis. (PubMed id 9372940)1, 2, 3 Gautier T.... Hurt E. (Mol. Cell. Biol. 1997)
    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. Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. (PubMed id 12777385)1, 2 Hayano T....Takahashi N. (J. Biol. Chem. 2003)
    6. Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (Mol. Biol. Cell 2002)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    8. Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs. (PubMed id 19331828)1, 9 Lechertier T....Roussel P. (Exp. Cell Res. 2009)
    9. Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis. (PubMed id 19620283)1, 9 McKeegan K.S....Watkins N.J. (Mol. Cell. Biol. 2009)
    10. Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP. (PubMed id 12417735)1, 9 Watkins N.J....LA1hrmann R. (Mol. Cell. Biol. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10528 HGNC: 15911 AceView: NOL5A Ensembl:ENSG00000101361 euGenes: HUgn10528
    ECgene: NOP56 Kegg: 10528 H-InvDB: NOP56

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for NOP56 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 NOP56 gene:
    Search GeneIP for patents involving NOP56

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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