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NSUN5 Gene

protein-coding   GIFtS: 56
GCID: GC07M072716

NOP2/Sun Domain Family, Member 5

(Previous names: Williams Beuren syndrome chromosome region 20A, NOL1/NOP2/Sun...)
(Previous symbols: WBSCR20, WBSCR20A)
Pneumococci & Pneumococcal Diseases Congress
  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
NOP2/Sun Domain Family, Member 51 2     NOL1/NOP2/Sun Domain Family, Member 51
WBSCR201 2 3 5     NOP2/Sun Domain Family1
WBSCR20A1 2 3 5     NOL12
Williams Beuren Syndrome Chromosome Region 20A1 2     NSUN5A2
NOL1R2 3     NOP2/Sun Domain Family, Member 5A2
NOL1-Related Protein2 3     p1202
NOL1/NOP2/Sun Domain Family Member 52 3     Putative Methyltransferase NSUN52
Williams-Beuren Syndrome Chromosomal Region 20A Protein2 3     Williams-Beuren Syndrome Critical Region Protein 20 Copy A2
Member 5A1     EC 2.1.1.-3

External Ids:    HGNC: 163851   Entrez Gene: 556952   Ensembl: ENSG000001303057   OMIM: 6157325   UniProtKB: Q96P113   

Export aliases for NSUN5 gene to outside databases

Previous GC identifers: GC07M072162 GC07M072355 GC07M068598


(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 NSUN5 Gene:
This gene encodes a member of an evolutionarily conserved family of proteins that may function as
methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren
syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same
region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms.
(provided by RefSeq, Jul 2013)

GeneCards Summary for NSUN5 Gene:
NSUN5 (NOP2/Sun domain family, member 5) is a protein-coding gene. Diseases associated with NSUN5 include ehrlichiosis, and supravalvular aortic stenosis. GO annotations related to this gene include methyltransferase activity and RNA binding. An important paralog of this gene is NSUN7.

UniProtKB/Swiss-Prot: NSUN5_HUMAN, Q96P11
Function: May have S-adenosyl-L-methionine-dependent methyl-transferase activity (Potential)

Gene Wiki entry for NSUN5 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:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NSUN5 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   Tal-1beta   HEN1   E2F-1   E2F   PPAR-gamma2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNSUN5 promoter sequence
   Search Chromatin IP Primers for NSUN5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NSUN5


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

NSUN5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NSUN5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M072716:  view genomic region     (about GC identifiers)

Start:
72,716,514 bp from pter      End:
72,722,864 bp from pter
Size:
6,351 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 72,049,586-72,055,936     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NSUN5_HUMAN, Q96P11 (See protein sequence)
Recommended Name: Putative methyltransferase NSUN5  
Size: 429 amino acids; 46692 Da
1 PDB 3D structure from and Proteopedia for NSUN5:
2B9E (3D)    
Secondary accessions: B3KX04 B4DP79 G3V0G9 Q6ZUI8 Q96HT9 Q9NW70
Alternative splicing: 5 isoforms:  Q96P11-1   Q96P11-2   Q96P11-3   Q96P11-4   Q96P11-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NSUN5: NX_Q96P11

Explore proteomics data for NSUN5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys22, Lys82, Lys144, Lys262
  • Modification sites at PhosphoSitePlus

  • See NSUN5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001161819.1  NP_001161820.1  NP_060514.1  NP_683759.1  

    ENSEMBL proteins: 
     ENSP00000393081   ENSP00000252594   ENSP00000388464   ENSP00000309126   ENSP00000405757  

    NSUN5 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for NSUN5
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    Novus Biologicals NSUN5 Protein
    Novus Biologicals NSUN5 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NSUN5

    NSUN5 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    LSBio Antibodies in human, mouse, rat for NSUN5

    NSUN5 Assay Products:

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    Cloud-Clone Corp. CLIAs for NSUN5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NSUN: NOP2/Sun domain containing

    2 InterPro protein domains:
     IPR023267 RCMT
     IPR001678 Fmu/NOL1/Nop2p

    Graphical View of Domain Structure for InterPro Entry Q96P11

    ProtoNet protein and cluster: Q96P11

    2 Blocks protein domains:
    IPB001678 Bacterial Sun/eukaryotic nucleolar Nop1/Nop2
    IPB006174 16S rRNA m5C967 methyltransferase


    UniProtKB/Swiss-Prot: NSUN5_HUMAN, Q96P11
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family


    NSUN5 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: NSUN5_HUMAN, Q96P11
    Function: May have S-adenosyl-L-methionine-dependent methyl-transferase activity (Potential)

         Enzyme Number (IUBMB): EC 2.1.1.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0008168methyltransferase activity IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    NSUN5 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NSUN5:
     Decreased homologous recombina  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NSUN5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NSUN5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NSUN5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NSUN5

    miRNA
    Products:
        
    miRTarBase miRNAs that target NSUN5:
    hsa-mir-222-3p (MIRT046634), hsa-mir-34a-5p (MIRT025357), hsa-mir-155-5p (MIRT020938), hsa-mir-197-3p (MIRT007211)

    Block miRNA regulation of human, mouse, rat NSUN5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NSUN5 (see all 23):
    hsa-miR-3149 hsa-miR-498 hsa-miR-485-5p hsa-miR-100* hsa-miR-495 hsa-miR-218-1* hsa-miR-134 hsa-miR-548a-3p
    SwitchGear 3'UTR luciferase reporter plasmidNSUN5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NSUN5
    Predesigned siRNA for gene silencing in human, mouse, rat NSUN5

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NSUN5

    Clone
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    OriGene clones in human, mouse for NSUN5 (see all 21)
    OriGene ORF clones in mouse, rat for NSUN5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NSUN5 (NM_018044)
    Sino Biological Human cDNA Clone for NSUN5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSUN5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSUN5

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NSUN5
    Browse ESI BIO Cell Lines and PureStem Progenitors for NSUN5 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN5


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1

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

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

    NSUN5 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 NSUN5
    Interactions:

        Search GeneGlobe Interaction Network for NSUN5

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

    Selected Interacting proteins for NSUN5 (Q96P112, 3 ENSP000003884644) via UniProtKB, MINT, STRING, and/or I2D (see all 833)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607092, 3MINT-7945693 MINT-7947479 I2D: score=1 
    HSP90AA1P079002, 3MINT-7945693 MINT-7947479 I2D: score=1 
    MSH2P432462, 3MINT-7945693 MINT-7947479 I2D: score=1 
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    EXOSC10Q017802, ENSP000003661354MINT-7945693 MINT-7947479 STRING: ENSP00000366135
    About this table

    (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 NSUN5

    1 HMDB Compound for NSUN5    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    1 Novoseek inferred chemical compound relationship for NSUN5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 42.1 15 1703631 (6), 7514295 (3), 8614246 (1), 11053419 (1) (see all 5)



    NSUN5 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NSUN5 gene (4 alternative transcripts): 
    NM_001168347.2  NM_001168348.2  NM_018044.4  NM_148956.3  

    Unigene Cluster for NSUN5:

    NOP2/Sun domain family, member 5
    Hs.647060  [show with all ESTs]
    Unigene Representative Sequence: NM_018044
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428206(uc011kev.2 uc003txv.3 uc003txw.3 uc003txx.3)
    ENST00000471461 ENST00000252594 ENST00000438747 ENST00000310326 ENST00000478977
    ENST00000455763

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NSUN5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NSUN5 (see all 23):
    hsa-miR-3149 hsa-miR-498 hsa-miR-485-5p hsa-miR-100* hsa-miR-495 hsa-miR-218-1* hsa-miR-134 hsa-miR-548a-3p
    SwitchGear 3'UTR luciferase reporter plasmidNSUN5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NSUN5
    Predesigned siRNA for gene silencing in human, mouse, rat NSUN5
    Clone
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    OriGene clones in human, mouse for NSUN5 (see all 21)
    OriGene ORF clones in mouse, rat for NSUN5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NSUN5 (NM_018044)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NSUN5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSUN5
    Primer
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    OriGene qPCR primer pairs and template standards for NSUN5
    OriGene qSTAR qPCR primer pairs in human, mouse for NSUN5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NSUN5
      QuantiTect SYBR Green Assays in human, mouse, rat NSUN5
      QuantiFast Probe-based Assays in human, mouse, rat NSUN5

    Additional mRNA sequence: 

    AF412028.1 AF420249.1 AK001129.1 AK098619.1 AK126375.1 AK298221.1 AK315361.1 BC008084.2 

    Selected DOTS entries (see all 29):

    DT.100059442  DT.92471465  DT.95128557  DT.121057875  DT.100878803  DT.100753740  DT.97784000  DT.121057923 
    DT.97862737  DT.95145052  DT.121057797  DT.121058065  DT.100878807  DT.102838696  DT.121058248  DT.92471463 
    DT.86845764  DT.95145219  DT.121058147  DT.100878785  DT.102838691  DT.102845546  DT.121058098  DT.121058113 

    Selected AceView cDNA sequences (see all 174):

    AU120611 BQ645205 BC008084 BE271500 AF412028 CA454316 AL557321 BU944161 
    AA928793 BX353090 BM795018 AW732194 BQ063172 BG324046 AW189683 BQ643605 
    CA454957 AI189756 AK001129 BE268991 CA306439 BU146820 AW183796 AI262893 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NSUN5    About this scheme

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


    ECgene alternative splicing isoforms for NSUN5

    (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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    NSUN5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGGCAGG
    NSUN5 Expression
    About this image


    NSUN5 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
     
     Eye (Sensory Organs)
             Retina
     
     Lymph (Hematopoietic System)
    NSUN5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NSUN5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647060

    UniProtKB/Swiss-Prot: NSUN5_HUMAN, Q96P11
    Tissue specificity: Ubiquitous. Detected in placenta, heart and skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN5

    (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 NSUN5 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nsun51 , 5 NOL1/NOP2/Sun domain family, member 51, 5 82.69(n)1
    85.13(a)1
      5 (75.16 cM)5
    1006091  NM_145414.21  NP_663389.21 
     1353699535 
    chicken
    (Gallus gallus)
    Aves NSUN51 NOP2/Sun domain family, member 5 65.9(n)
    63.16(a)
      417462  XM_415710.4  XP_415710.3 
    lizard
    (Anolis carolinensis)
    Reptilia NSUN56
    NOP2/Sun domain family, member 5
    60(a)
    1 ↔ 1
    GL343406.1(336253-337626)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL963985.22   -- 69.75(n)    AL963985.2 
    zebrafish
    (Danio rerio)
    Actinopterygii BC050958.12   -- 74.92(n)    BC050958.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG423586
    --
    29(a)
    1 ↔ 1
    3R(14985821-14988000)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y53F4B.41 CELE_Y53F4B.4 46.62(n)
    38.37(a)
      175153  NM_064688.4  NP_497089.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YNL022C)4
    RCM11
    Putative cytosine 5-methyltransferase, contains seven more4
    RCM11
    42.04(n)1
    34.42(a)1
      14(592899-591427)4
    8557091, 4  NP_014376.31  NP_014376.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G261801 AT5G26180 49.3(n)
    43.42(a)
      832687  NM_180748.1  NP_851079.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g02178001 Os02g0217800 49.56(n)
    44.68(a)
      4328735  NM_001052836.1  NP_001046301.1 


    ENSEMBL Gene Tree for NSUN5 (if available)
    TreeFam Gene Tree for NSUN5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NSUN5 gene
    NSUN72  
    2 SIMAP similar genes for NSUN5 using alignment to 2 protein entries:     NSUN5_HUMAN (see all proteins):
    NSUN5P1    NSUN5P2

    NSUN5 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NSUN5
    PGOHUM00000232863 PGOHUM00000257179


    (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 NSUN5 (see all 238)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1403661821,2
    --72716796(+) GAGGGC/TGAGTG 4 -- ut310--------
    rs1910977791,2
    --72716980(+) AGGTAC/GACCCT 4 -- ut310--------
    rs26953811,2
    --72716997(+) GTCAGC/TACCTG 4 -- ut311Minor allele frequency- T:0.00NA 2
    rs3874471,2
    --72717007(+) GAGCTA/TGTTTA 4 -- ut313Minor allele frequency- T:0.36MN NA 188
    rs1811811621,2
    --72717008(+) AGCTAA/GTTTAC 4 -- ut310--------
    rs26953821,2
    --72717059(+) GTGAGT/AGTGAG 4 -- ut311Minor allele frequency- A:0.00NA 2
    rs1228251,2
    F--72717085(+) TACACG/ACACTG 4 -- ut319Minor allele frequency- A:0.36NA EA MN 288
    rs26953841,2
    --72717159(+) TGGAAC/TTTTTA 4 -- ut311Minor allele frequency- T:0.00NA 2
    rs1455496721,2
    C--72717230(+) GTAGAA/GTACGT 4 -- ut310--------
    rs31772501,2
    --72717250(-) CTGCAA/GAAATA 4 -- ut311Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for NSUN5 (72716514 - 72722864 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for NSUN5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734660CNV Deletion23290073
    nsv831027CNV Loss17160897
    esv34349CNV Gain17911159
    dgv7324n71CNV Gain21882294
    nsv888362CNV Gain21882294
    nsv520573CNV Gain+Loss19592680
    dgv2095e1CNV Complex17122850
    dgv2099e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NSUN5
    DNA2.0 Custom Variant and Variant Library Synthesis for NSUN5

    (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.)
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    OMIM gene information: 615732    OMIM disorders: --

    UniProtKB/Swiss-Prot: NSUN5_HUMAN, Q96P11
  • Note=NSUN5 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region

  • 12 diseases for NSUN5:    
    About MalaCards
    ehrlichiosis    supravalvular aortic stenosis    williams-beuren syndrome    megakaryocytic leukemia
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    infertility    neuroblastoma
    tuberculosis    multiple myeloma    leukemia    myeloma

    2 diseases from the University of Copenhagen DISEASES database for NSUN5:
    Williams-Beuren syndrome     Supravalvular aortic stenosis

    NSUN5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    1 Novoseek inferred disease relationship for NSUN5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ehrlichiosis 70.9 5 10618118 (3), 10603362 (1)


    Export disorders for NSUN5 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 NSUN5 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with NSUN5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome. (PubMed id 11978965)1, 2, 3, 9 Doll A. and Grzeschik K.-H. (Cytogenet. Cell Genet. 2001)
    2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G.... Reymond A. (Hum. Genet. 2002)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    6. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. 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)

    (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: 55695 HGNC: 16385 AceView: WBSCR20A Ensembl:ENSG00000130305 euGenes: HUgn55695
    ECgene: NSUN5 H-InvDB: NSUN5

    (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 NSUN5 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 NSUN5 gene:
    Search GeneIP for patents involving NSUN5

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



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