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

NSUN5 Gene

protein-coding   GIFtS: 53
GCID: GC07M072716

NOP2/Sun domain family, member 5

(Previous names: Williams Beuren syndrome chromosome region 20A, NOL1/NOP2/Sun...)
(Previous symbols: WBSCR20, WBSCR20A)
 Explore 14 diseases affiliated with
NSUN5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NSUN5    

Aliases
for NSUN5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NOP2/Sun Domain Family, Member 51 2     NOL1/NOP2/Sun Domain Family Member 52 3
NOL1R1 2 3     (NOL1)1
WBSCR201 2 3     FLJ102671
WBSCR20A1 2 3     Ynl022cL1
NSUN5A1 2     NOL12
NOL1/NOP2/Sun Domain Family, Member 51 2     NOP2/Sun Domain Family, Member 5A2
P1201     Putative Methyltransferase NSUN52
Williams Beuren Syndrome Chromosome Region 20A1 2     Williams-Beuren Syndrome Critical Region Protein 20 Copy A2
Williams-Beuren Syndrome Chromosomal Region 20A Protein2 3     EC 2.1.1.-3
NOL1-Related Protein2 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


Summaries
for NSUN5 gene

(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:
This gene encodes a member of the evolutionarily conserved NOL1/NOP2/Sun domain family. The encoded protein may
function as a DNA methyltransferase in the nucleus. This gene is deleted in Williams syndrome, a multisystem
developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene
results in multiple transcript variants encoding different isoforms. (provided by RefSeq, Dec 2009)

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

Gene Wiki entry for NSUN5


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  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 plasmid: NSUN5 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     

Proteins
for NSUN5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Isoform 2 is phosphorylated upon DNA damage, probably by ATM or ATR1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96P11

    • NSUN5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000393081   ENSP00000252594   ENSP00000388464   ENSP00000309126   ENSP00000405757  

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    OriGene Protein Over-expression Lysate: NSUN5
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    Uscn Proteins for NSUN5


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    Uscn ELISAs and CLIAs for NSUN5

    Protein Domains /
    Families
    for NSUN5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NSUN5 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry Q96P11

    ProtoNet protein and cluster: Q96P11

    2 Blocks protein families:
    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


    Function
    for NSUN5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    Enzyme Number (IUBMB): EC 2.1.1.-1

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): NSUN5
    Browse MicroRNA Expression Plasmids
    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 plasmid: NSUN5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NSUN5 (see all 4)
    OriGene shRNA RFP: NSUN5
    OriGene siRNA: NSUN5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSUN5

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NSUN5 (see all 5)
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    GenScript: all cDNA clones in your preferred vector (see all 4): NSUN5 (NM_018044)
    Sino Biological Human cDNA Clone for NSUN5
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSUN5 

    Cell Line
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    Search LifeMap BioReagents cell lines for NSUN5

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NSUN5

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity IEA--


    NSUN5 for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for NSUN5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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)

    5/754 Interacting proteins for NSUN5 (Q96P112, 3 ENSP000003884644) via UniProtKB, MINT, STRING, and/or I2D (see all 754)
    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

    Drugs & Compounds
    for NSUN5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for NSUN5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NSUN5 gene (4 alternative transcripts): 
    NM_001168347.1  NM_001168348.1  NM_018044.3  NM_148956.2  

    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:             		 OriGene 3'-UTR Clone (see all 2): NSUN5
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: NSUN5 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NSUN5 (see all 4)
    OriGene shRNA RFP: NSUN5
    OriGene siRNA: NSUN5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NSUN5
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): NSUN5 (NM_018044)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NSUN5 
    Primer
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    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 cDNA 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):

    BQ053770 BQ883740 BC008084 BG746873 BU146820 BI261602 AA928793 BE268991 
    BQ062021 BU857613 BQ053665 CA454316 BQ063172 AW183796 AF412028 AW189683 
    AL557321 NM_018044 BU944161 AW732194 CA415215 BE396890 AA314839 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

    Expression
    for NSUN5 gene

    (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
    CGAP TAG: CCCTGGCAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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

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    In Situ
    Assay Products:     
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    Orthologs
    for NSUN5 gene

    (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 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 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
    for NSUN5 gene

    (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


    Genomic Variants
    for NSUN5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/165 NCBI SNPs in NSUN5 are shown (see all 165)     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
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for NSUN5
         3 CNVs: 2699 3685 8567

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    Disorders / Diseases
    for NSUN5 gene

    (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.)
    About This Section
    NSUN5 for disorders           About GeneDecksing

    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

    14 diseases for NSUN5:    About MalaCards
    williams-beuren syndrome    supravalvular aortic stenosis    williams syndrome    ehrlichiosis
    megakaryocytic leukemia    intrahepatic cholangiocarcinoma    cholangiocarcinoma    infertility
    pneumonia    leukemia    neuroblastoma    tuberculosis
    malaria    mycobacterium tuberculosis

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

    1 Novoseek 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

    Publications
    for NSUN5 gene

    (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)

    External Searches for NSUN5 gene

    (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)

    Genome Databases showing NSUN5 gene

    (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

    Other Databases showing NSUN5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NSUN5 gene

    (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

    Intellectual Property
    for NSUN5 gene

    (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



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