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

DSN1 Gene

protein-coding   GIFtS: 49
GCID: GC20M035380

DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)

(Previous name: chromosome 20 open reading frame 172 )
(Previous symbol: C20orf172)
  Search for DSN1
in our new
 Human Malady Compendium 
Biological research products
for DSN1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
DSN1, MIND Kinetochore Complex Component, Homolog (S. Cerevisiae)1 2     HKNL-31
C20orf1721 2 3     Chromosome 20 Open Reading Frame 1721
MIS131 2 3     Kinetochore Null 3 Homolog2
KNL31 2     Kinetochore-Associated Protein DSN1 Homolog2
DJ469A13.21     

External Ids:    HGNC: 161651   Entrez Gene: 799802   Ensembl: ENSG000001496367   OMIM: 6091755   UniProtKB: Q9H4103   

Export aliases for DSN1 gene to outside databases

Previous GC identifers: GC20M034815 GC20M032116


(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 DSN1:
This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex.
The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Feb 2009)

UniProtKB/Swiss-Prot: DSN1_HUMAN, Q9H410
Function: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore
formation during mitosis

Gene Wiki entry for DSN1


(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_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DSN1 gene promoter:
         GR   AREB6   GR-beta   GR-alpha   HNF-3beta   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DSN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSN1


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

Entrez Gene cytogenetic band: 20q11.23   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.23

DSN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSN1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M035380:  view genomic region     (about GC identifiers)

Start:
35,380,194 bp from pter      End:
35,402,230 bp from pter
Size:
22,037 bases      Orientation:
minus strand

(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: DSN1_HUMAN, Q9H410 (See protein sequence)
Recommended Name: Kinetochore-associated protein DSN1 homolog  
Size: 356 amino acids; 40067 Da
Subunit: Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with CASC5, CBX3 and
CBX5
Subcellular location: Nucleus. Chromosome, centromere, kinetochore. Note=Associated with the kinetochore
Sequence caution: Sequence=BAB14564.1; Type=Frameshift; Positions=277;
Secondary accessions: B4DWT2 E1P5U9 Q5JW55 Q5JW56 Q9H8P4
Alternative splicing: 4 isoforms:  Q9H410-1   Q9H410-2   Q9H410-4   Q9H410-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DSN1: NX_Q9H410

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H410

  • DSN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001138787.1  NP_001138788.1  NP_001138789.1  NP_001138790.1  NP_079194.3  

    ENSEMBL proteins: 
     ENSP00000362855   ENSP00000362845   ENSP00000362839   ENSP00000404457   ENSP00000399654  
     ENSP00000395760   ENSP00000389810   ENSP00000362850   ENSP00000404463  
    Reactome Protein details: Q9H410
    Human Recombinant Protein Products: 
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    Novus Biologicals DSN1 Proteins
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DSN1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000444MIS12/MIND type complex IDA16585270
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--


    DSN1 for ontologies           About GeneDecksing



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

    DSN1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR013218 Mtw1_DSN1

    Graphical View of Domain Structure for InterPro Entry Q9H410

    ProtoNet protein and cluster: Q9H410


    (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: DSN1_HUMAN, Q9H410
    Function: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore
    formation during mitosis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15502821


    DSN1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for DSN1:
     Decreased viability of wild-ty  Increased G1 DNA content 


    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1M Phase
    M Phase1.00
    Mitotic Anaphase0.85
    Mitotic M-M/G1 phases0.88
    Separation of Sister Chromatids0.80
    Mitotic Metaphase and Anaphase0.85
    2Resolution of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion1.00
    Mitotic Prometaphase0.93
    Kinetochore assembly0.96
    3Cell Cycle
    Cell Cycle1.00
    Cell Cycle, Mitotic0.84

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/10        Reactome Pathways for DSN1 (see all 10)
        Mitotic Metaphase and Anaphase
    Mitotic Prometaphase
    Resolution of Sister Chromatid Cohesion
    Mitotic Anaphase
    Cell Cycle



    DSN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DSN1

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

    5/77 Interacting proteins for DSN1 (Q9H4102, 3 ENSP000003628504) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R3Q925692, 3MINT-8266205 I2D: score=2 
    AIMP2Q131552, 3, ENSP000002230294MINT-8258871 I2D: score=2 STRING: ENSP00000223029
    MIS12Q9H0813, ENSP000003705574I2D: score=4 STRING: ENSP00000370557
    ZWINTO952293, ENSP000003630554I2D: score=4 STRING: ENSP00000363055
    CASC5Q8NG313, ENSP000003354634I2D: score=2 STRING: ENSP00000335463
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000087M phase of mitotic cell cycle TAS--
    GO:0000236mitotic prometaphase TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0007059chromosome segregation IEA--
    GO:0051301cell division IEA--


    DSN1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for DSN1
    Search CenterWatch for drugs/clinical trials and news about DSN1 

    (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 DSN1 gene (5 alternative transcripts): 
    NM_001145315.1  NM_001145316.1  NM_001145317.1  NM_001145318.1  NM_024918.3  

    Unigene Cluster for DSN1:

    DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)
    Hs.632268  [show with all ESTs]
    Unigene Representative Sequence: NM_001145316
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373750(uc002xga.3) ENST00000480153(uc002xgb.3) ENST00000373740
    ENST00000473615 ENST00000373734(uc010zvs.2) ENST00000449595 ENST00000447406
    ENST00000492703 ENST00000438549 ENST00000426836(uc010gfr.3 uc002xfy.4)
    ENST00000373745(uc002xfz.3) ENST00000448110(uc002xgc.3)

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    Inhib. RNA
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    Additional cDNA sequence: 

    AK023408.1 AK093031.1 AK290738.1 AK301671.1 AK301840.1 BC026011.1 BC035821.1 BC058899.1 

    10 DOTS entries:

    DT.101983663  DT.100724334  DT.423104  DT.91716579  DT.97842569  DT.91716567  DT.99994506  DT.99989772 
    DT.92414125  DT.95082253 

    24/111 AceView cDNA sequences (see all 111):

    AI383031 AK093031 AW470067 BC058899 BP368904 BX447143 BQ646799 AA766268 
    CK000307 NM_024918 AX747868 CR594821 BF792421 BM561637 BE350682 AI817134 
    BG122940 BU629093 BG574317 CA413280 BQ227175 AL521561 BQ890302 BC035821 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for DSN1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
    SP1:                          -     -                                                                                             
    SP2:                          -     -                                                                                             
    SP3:                                -                                                                                             
    SP4:                          -     -                                                                                             
    SP5:                          -     -                                   -                                                         


    ECgene alternative splicing isoforms for DSN1

    (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

    DSN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACAAGAAAGG

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

    About this image
    See DSN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DSN1

    SOURCE GeneReport for Unigene cluster: Hs.632268
        SABiosciences Custom PCR Arrays for DSN1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSN1

    (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 chordates.

    Orthologs for DSN1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dsn11 , 5 DSN1, MIND kinetochore complex component, homolog (S. more1, 5 79.98(n)1
    72.01(a)1
      2 (77.89 cM)5
    669341  NM_025853.31  NP_080129.21 
     1569952655 
    chicken
    (Gallus gallus)
    Aves DSN11 DSN1, MIND kinetochore complex component, homolog (S. more 55.63(n)
    46.49(a)
      426088  NM_001044660.1  NP_001038125.1 
    lizard
    (Anolis carolinensis)
    Reptilia DSN16
    --
    42(a)
    1 ↔ 1
    GL343198.1(4238103-4251015)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000029161 kinetochore-associated protein DSN1 homolog 44.07(n)
    28.41(a)
      100002916  XM_001923613.2  XP_001923648.1 


    ENSEMBL Gene Tree for DSN1 (if available)
    TreeFam Gene Tree for DSN1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DSN1 gene

    DSN1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DSN1
    PGOHUM00000236794


    (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

    10/377 NCBI SNPs in DSN1 are shown (see all 377    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs61020791,2
    C,F,H,--35379741(+) ATACCC/TGGCTA 5 -- ds50017Minor allele frequency- T:0.02NS NA WA 1024
    rs12752611,2
    --35379833(+) ccaaaG/Ctgctg 5 -- ds50012Minor allele frequency- C:0.00NA 4
    rs597657761,2
    C--35379877(+) TTTTTTTTTTTT 
    TTTTTT
    /-
    GAGAC
    5 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1464830931,2
    --35379934(+) CACGAC/TCTCGG 5 -- ds50010--------
    rs1867759561,2
    --35379982(+) TCCTGC/TCTCAC 5 -- ds50010--------
    rs1133398271,2
    C,--35380017(+) ACACCG/ACCACG 5 -- ds50011Minor allele frequency- A:0.50NA 2
    rs123738571,2
    C--35380050(+) tagtaG/Aagaca 5 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1501606591,2
    --35380288(+) CTTTCC/TTGTCA 5 -- ut310--------
    rs114734161,2
    C,--35380307(+) GATTT-/AGGAGGTC 5 -- ut310--------
    rs12752621,2
    C,F,H,--35380383(+) TCAAAT/CTGAAC 5 -- ut318Minor allele frequency- C:0.04MN NS NA WA 1096

    HapMap Linkage Disequilibrium report for DSN1 (35380194 - 35402230 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DSN1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSN1
    DNA2.0 Custom Variant and Variant Library Synthesis for DSN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DSN1 for disorders           About MalaCards

    DSN1 for disorders           About GeneDecksing

    OMIM gene information: 609175    OMIM disorders: --


    Export disorders for DSN1 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 DSN1 gene, integrated from 9 sources (see all 30):
    (articles sorted by number of sources associating them with DSN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation. (PubMed id 16585270)1, 2, 3 Kline S.L.... Desai A. (2006)
    2. Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1. (PubMed id 17981135)1, 2 Kiyomitsu T.... Yanagida M. (2007)
    3. A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1. (PubMed id 15502821)1, 2 Obuse C....Yanagida M. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. Aurora B controls kinetochore-microtubule attachments by inhibiting Ska complex-KMN network interaction. (PubMed id 22371557)1 Chan Y.W....Santamaria A. (2012)
    8. 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)
    9. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79980 HGNC: 16165 AceView: C20orf172 Ensembl:ENSG00000149636 euGenes: HUgn79980
    ECgene: DSN1 H-InvDB: DSN1

    (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 DSN1 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 DSN1 gene:
    Search GeneIP for patents involving DSN1

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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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