Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

NSUN5 Gene

protein-coding   GIFtS: 54
GCID: GC07M072716

NOP2/Sun Domain Family, Member 5

(Previous names: Williams Beuren syndrome chromosome region 20A, NOL1/NOP2/Sun...)
(Previous symbols: WBSCR20, WBSCR20A)
  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
NOP2/Sun Domain Family, Member 51 2     NOL1/NOP2/Sun Domain Family, Member 51
WBSCR201 2 3     NOP2/Sun Domain Family1
WBSCR20A1 2 3     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   UniProtKB: Q96P113   

Export aliases for NSUN5 gene to outside databases

Previous GC identifers: GC07M072162 GC07M072355 GC07M068598


(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 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 williams-beuren syndrome, and ehrlichiosis. GO annotations related to this gene include methyltransferase activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079593.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NSUN5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96P11

  • NSUN5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NSUN5 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001161819.1  NP_001161820.1  NP_060514.1  NP_683759.1  

    ENSEMBL proteins: 
     ENSP00000393081   ENSP00000252594   ENSP00000388464   ENSP00000309126   ENSP00000405757  

    Human Recombinant Protein Products for NSUN5: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NSUN5
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for NSUN5
    GenScript Custom Purified and Recombinant Proteins Services for NSUN5
    Novus Biologicals NSUN5 Protein
    Novus Biologicals NSUN5 Lysate
    Browse Sino Biological Recombinant Proteins
    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
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NSUN5
    GenScript Custom Superior Antibodies Services for NSUN5
    Novus Biologicals NSUN5 Antibody
    Abcam antibodies for NSUN5
    Cloud-Clone Corp. Antibodies for NSUN5 
    Search ThermoFisher Antibodies for NSUN5
    LSBio Antibodies in human, mouse, rat for NSUN5 

    Assay Products for NSUN5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NSUN5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NSUN5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NSUN5 
    Cloud-Clone Corp. CLIAs for NSUN5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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 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,
    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: 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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0008168methyltransferase activity IEA--
         
    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 - Custom generated mouse model solutions for NSUN5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NSUN5
    8/23 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NSUN5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSUN5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NSUN5
    Sirion Biotech Customized adenovirus for overexpression of NSUN5

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NSUN5 (see all 17)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of NSUN5 
                         Customized lentivirus expression plasmids for stable overexpression of NSUN5 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NSUN5
    Search LifeMap BioReagents cell lines for NSUN5
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN5


    (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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NSUN5

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/791 Interacting proteins for NSUN5 (Q96P112, 3 ENSP000003884644) via UniProtKB, MINT, STRING, and/or I2D (see all 791)
    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
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    About this table

    (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

    NSUN5 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about NSUN5

    (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 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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NSUN5
    8/23 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NSUN5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSUN5
    Clone
    Products:
         
    OriGene clones in human, mouse for NSUN5 (see all 17)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of NSUN5 
                         Customized lentivirus expression plasmids for stable overexpression of NSUN5 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NSUN5
    OriGene qSTAR qPCR primer pairs in human, mouse for NSUN5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NSUN5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSUN5
      QIAGEN 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 

    24/29 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 

    24/174 AceView cDNA sequences (see all 174):

    AW183796 AI262893 BE797018 BE396890 CA306439 BM852254 BE671092 AI189756 
    BE271500 AI193362 CA454316 BM917334 AF412028 CA415236 AW732194 AK001129 
    BQ063172 BQ053770 CD365318 BE513843 BQ883740 BQ645205 AK098619 BX353090 

    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™, 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

    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


    See NSUN5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NSUN5

    SOURCE GeneReport for Unigene cluster: Hs.647060

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

        SABiosciences Custom PCR Arrays for NSUN5
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NSUN5
    OriGene qSTAR qPCR primer pairs in human, mouse for NSUN5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NSUN5
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSUN5
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSUN5
    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NSUN5 gene from 10/21 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 82.61(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 66.59(n)
    64.75(a)
      417462  XM_415710.3  XP_415710.3 
    lizard
    (Anolis carolinensis)
    Reptilia NSUN56
    Uncharacterized protein
    61(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
    --
    30(a)
    1 ↔ 1
    3R(14985821-14988000)
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y53F4B.41 Protein Y53F4B.4 46.14(n)
    37.47(a)
      175153  NM_064688.3  NP_497089.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YNL022C)4
    YNL022C1
    Putative cytosine 5-methyltransferase, contains seven more4
    hypothetical protein1
    42.57(n)1
    35.18(a)1
      14(592899-591427)4
    8557091, 4  NP_014376.31  NP_014376.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G261801 NOL1/NOP2/sun family protein 48.16(n)
    41.83(a)
      832687  NM_180748.1  NP_851079.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g02178001 hypothetical protein 49.83(n)
    44.7(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)
    About This Section
    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) 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

    10/238 SNPs in NSUN5 are shown (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

    SABiosciences Cancer Mutation 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.)
    About This Section
    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

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

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

    NSUN5 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for NSUN5 gene, integrated from 9 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. (2001)
    2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PubMed id 12073013)1, 2, 3 Merla G....Reymond A. (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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (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. (2012)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (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: 55695 HGNC: 16385 AceView: WBSCR20A Ensembl:ENSG00000130305 euGenes: HUgn55695
    ECgene: NSUN5 H-InvDB: NSUN5

    (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 NSUN5 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 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for NSUN5  
     OriGene qPCR primer pairs and template standards for NSUN5   OriGene Protein Over-expression Lysate for NSUN5  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NSUN5  
     OriGene qSTAR qPCR primer pairs in human, mouse for NSUN5   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for NSUN5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NSUN5   OriGene Custom Protein Services for NSUN5  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NSUN5
     QIAGEN SeqTarget long-range PCR primers for resequencing NSUN5
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NSUN5
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSUN5
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NSUN5
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NSUN5
     GenScript Custom Purified and Recombinant Proteins Services for NSUN5 GenScript cDNA clones with any tag delivered in your preferred vector for NSUN5
     GenScript Custom Assay Services for NSUN5 GenScript Custom Superior Antibodies Services for NSUN5
     GenScript Custom overexpressing Cell Line Services for NSUN5 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in NSUN5 promoter
     Search Chromatin IP Primers for NSUN5
     RT2 qPCR Primer Assay in human, mouse, rat NSUN5
     Search GNC Networks for NSUN5
     SABiosciences Custom PCR Arrays for NSUN5
     Search Tocris compounds for NSUN5
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for NSUN5
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     NSUN5 antibodies
     NSUN5 proteins
     NSUN5 lysates
     Antibodies for NSUN5
     See all of Abcam's Antibodies, Kits and Proteins for NSUN5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for NSUN5
     Antibodies for NSUN5
     ELISAs for NSUN5
     CLIAs for NSUN5
     Search LifeMap BioReagents cell lines for NSUN5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN5
     SwitchGear 3'UTR luciferase reporter plasmids for NSUN5
     SwitchGear Promoter luciferase reporter plasmids for NSUN5
     Search ThermoFisher Antibodies for NSUN5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSUN5
     inGenious Targeting Laboratory - Custom generated mouse model solutions for NSUN5
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NSUN5
    Customized:
     lentivirus for stable overexpression of NSUN5
     lentivirus expression plasmids for stable overexpression of NSUN5
     adenovirus for overexpression of NSUN5
     LSBio Antibodies in human, mouse, rat for NSUN5
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NSUN5 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4