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DAZAP1 Gene

protein-coding   GIFtS: 54

GC19P001361
DAZ associated protein 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
MGC19907 1, 2
Descriptions
DAZ associated protein 1 2
Deleted in azoospermia-associated protein 1 3
deleted in azoospermia associated protein 1 2
External Ids
HGNC: 26831
Entrez Gene: 265282
UniProtKB: Q96EP53
Ensembl: ENSG000000716267
Search outside databases for aliases for DAZAP1 gene

Previous GC identifers: GC19P001465 GC19P001347 GC19P001359 GC19P001360

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for DAZAP1:
In mammals, the Y chromosome directs the development of the testes and plays an important role in
spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y
chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y
chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that
the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral
autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a
RNA-binding protein with two RNP motifs that was originally identified by its interaction with the
infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene.
[provided by RefSeq]

UniProtKB/Swiss-Prot: DAZP1_HUMAN, Q96EP5
Function: RNA-binding protein, which may be required during spermatogenesis

Gene Wiki entry for DAZAP1 (DAZ_associated_protein_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the DAZAP1 gene  

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

DAZAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P001361:     (about GC identifiers)

Start:
1,358,584 bp from pter
End:
1,386,683 bp from pter
Size:
28,100 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000019.8  NT_011255.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: DAZP1_HUMAN, Q96EP5 (See protein sequence)
Recommended Name: DAZ-associated protein 1  
Size: 407 amino acids; 43383 Da
Subunit: Interacts with DAZ and DAZL
Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=Predominantly
cytoplasmic (By similarity). Nuclear at some stages of spermatozoides development. In midpachytene
spermatocytes, it is localized in both the cytoplasm and the nuclei and is clearly excluded from
the sex vesicles. In round spermatids, it localizes mainly in the nuclei, whereas in elongated
spermatids, it localizes to the cytoplasm (By similarity)
PDB structure from and Proteopedia :
2DGS (3D)    2DH8 (3D)    
Secondary accessions: Q96MJ3 Q9NRR9
Alternative splicing: 2 isoforms:  Q96EP5-1   Q96EP5-2   

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_061832.2  NP_733829.1  


    ENSEMBL proteins: 
    ENSP00000337132 ENSP00000378904 ENSP00000233078 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich AQUA Peptides for DAZAP1  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (DAZAP1)
    Human Recombinant Proteins from Abnova (DAZAP1)
                  OriGene Purified Recombinant Human Protein: DAZAP1 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005730NOT nucleolus IDA18029348
    GO:0005737 cytoplasm IEA--
    About this table

    Antibodies for DAZAP1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for DAZAP1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (DAZAP1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (DAZAP1)
    Novus Biologicals Antibody for DAZAP1

    Assays for DAZAP1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    2 InterPro domains/families:
     IPR000504 RRM_RNP1
     IPR012677 a_b_plait_nuc_bd


       GeneDecks  DAZAP1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q96EP5

    ProtoNet protein and cluster: Q96EP5

    1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: DAZP1_HUMAN, Q96EP5
    Similarity: Contains 2 RRM (RNA recognition motif) domains

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (DAZAP1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (DAZAP1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_018959

                  Applied Biosystems Silencer® siRNAs for DAZAP1

                  Sigma-Aldrich siRNA for DAZAP1  
                         Sigma-Aldrich shRNA for DAZAP1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for DAZAP1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_018959
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_018959
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_018959 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_018959

    UniProtKB/Swiss-Prot: DAZP1_HUMAN, Q96EP5
    Function: RNA-binding protein, which may be required during spermatogenesis

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0003723 RNA binding TAS10857750
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  DAZAP1 


    5 Interacting proteins for DAZAP1 (ENSP000002330783) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAZAP2ENSP000003311003STRING (score=.955)
    MAPK1ENSP000002158323STRING (score=.873)
    DAZLENSP000002508633STRING (score=.741)
    MEF2DENSP000002715553STRING (score=.708)
    DAZ1ENSP000003027453STRING (score=.702)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275 multicellular organismal development IEA--
    GO:0007283 spermatogenesis TAS10857750
    GO:0030154 cell differentiation IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for DAZAP1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (DAZAP1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (DAZAP1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_018959

                  Sigma-Aldrich siRNA for DAZAP1  
                         Sigma-Aldrich shRNA for DAZAP1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_018959  NM_170711  

    REFSEQ mRNAs for DAZAP1 gene (2 alternative transcripts): 

    NM_018959.2   NM_170711.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_018959  NM_170711  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_018959
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_018959
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_018959 

    Additional cDNA sequence: 

    AF181719.1 AK056850.1 AK124583.1 AK125032.1 AK128682.1 AL360261.1 BC012062.1 CR601549.1 
    CR608914.1 CR619052.1 CR626076.1 

    24/30 DOTS entries (see all 30 ):

    DT.100690251  DT.100824328  DT.97859319  DT.97786432  DT.456067  DT.121495017  DT.91862508  DT.100824333 
    DT.100824337  DT.40113747  DT.40278462  DT.92034325  DT.100824334  DT.95201609  DT.121495005  DT.100824338 
    DT.40278443  DT.65287030  DT.92427967  DT.95201593  DT.95229276  DT.100824327  DT.100824331  DT.100824336 

    24/1397 AceView cDNA sequences (see all 1397 ):

    BQ267530 AA427634 BF528347 AJ712364 BF726955 BQ052499 BG031724 BM989087 
    CD105342 BI225995 AK092894 BU173667 BU789785 BQ270471 BE882443 BM810095 
    BU075575 BM919393 BQ637034 AI675162 BI225840 AW276357 AI253589 CF129814 

    highest scoring ESTs for DAZAP1:

    AA523424 AI951998 AI675162 AA046936 AA046956 AA278780 AA419178 AA626856 AA628585 AA643519 

    Unigene Cluster for DAZAP1:

    DAZ associated protein 1
    Hs.222510  [show with all ESTs]
    Unigene Representative Sequence: AK124583


    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for DAZAP1 (see all 10 )

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b · 15c
    SP1:                                                                                                                                                      
    SP2:                          -     -     -                                                                                                               
    SP3:                          -     -     -                                                                                                               
    SP4:                                                                                -                                                                     
    SP5:                          -     -     -                                         -                                                                     

    About this scheme

    ECgene alternative splicing isoforms for DAZAP1

    3 Ensembl transcripts including schematic representations:
    ENST00000336761  ENST00000395533  ENST00000233078  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    DAZAP1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for DAZAP1

    1 / 2 / 3

    13 probe-sets matching DAZAP1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    75641_at2, 3 U95-E 1 1.00 1.00 0.84 0.57 AA046956 0.80 1.00 0.91 1

    65586_at2, 3 U95-C 1 1.00 1.00 0.86 1.06 AI951998 1.00 1.00 1.00 1
    52558_s_at2, 3 U95-B 1 1.00 1.00 0.95 1.03 AI675162 1.00 0.90 0.95 1

    50940_at2, 3 U95-C 1 1.00 1.00 0.79 1.21 AI992237 0.60 1.00 0.82 1

    45513_at2, 3 U95-B 1 1.00 1.00 0.96 1.05 AA478830 0.60 0.83 0.73 1

    52559_r_at2, 3 U95-B 1 1.00 1.00 0.35 1.39 AI675162 1.00 0.90 0.95 1

    62527_r_at2, 3 U95-C 1 1.00 1.00 0.30 0.70 AA523424 1.00 1.00 1.00 1

    218443_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_018959 0.60 1.00 0.82 1

    226620_x_at2, 3 U133-B 1 1.00 1.00 -- -- AI951998 1.00 1.00 1.00 1

    229813_x_at2, 3 U133-B 1 0.91 1.00 -- -- BF512907 0.40 1.00 0.76 1

    218443_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    226620_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    229813_x_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    GeneDecks  DAZAP1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGCAAGCCCC

    SOURCE GeneReport for Unigene cluster: Hs.222510

    UniProtKB/Swiss-Prot: DAZP1_HUMAN, Q96EP5
    Tissue specificity: Mainly expressed in testis. Expressed to a lower level in thymus. Weakly or not
    expressed in heart, liver, brain, placenta, lung, skeletal muscle, kidney and pancreas

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for DAZAP1 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    DAZAP11   -- DAZ associated protein 1 99.33(n)
    100(a)
    455549  XM_001147948.1  XP_001147948.1 
    cow
    (Bos taurus)
    DAZAP11   -- DAZ associated protein 1 91.71(n)
    99.26(a)
    614783  XM_865950.2  XP_871043.2 
    rat
    (Rattus norvegicus)
    Dazap11   -- DAZ associated protein 1 88.81(n)
    98.52(a)
    362836  NM_001025742.1  NP_001020913.1 
    mouse
    (Mus musculus)
    Dazap11, 5 105
    DAZ associated protein 11, 5 88.89(n)1
    98.02(a)1
    702481  NM_133188.11  NP_573451.11 
     AF2259105  AK0106575  (see all 14)
    chicken
    (Gallus gallus)
    DAZAP11   -- DAZ associated protein 1 84.16(n)
    94.53(a)
    427266  NM_001031428.1  NP_001026599.1 
    About this table        Species with no ortholog for DAZAP1

    ENSEMBL Gene Tree for DAZAP1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for DAZAP1 gene
    TARDBP2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/138 NCBI SNPs in DAZAP1 are shown (see all 138 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 48)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs37609941,2
    C,F,H1386771(+) GAGGCG/ACCCTC 2 -- ng3111Minor allele frequency- A:0.35EA EU WA NA 2450
    rs6987481,2
    A,C,F,H1375888(+) GTGTCG/ACGCTC 2 -- int18Minor allele frequency- A:0.33EU EA WA NA 774
    --
    rs72512821,2
    A,C,F,H1359889(+) GTTTCC/TTAGTG 2 -- int14Minor allele frequency- T:0.12EU EA WA 412
    --
    rs72518331,2
    A,C,F,H1359904(+) GGTGTA/GAATTT 2 -- int14Minor allele frequency- G:0.13EU EA WA 410
    rs48079271,2
    A,C,F,H1374199(+) TGCCCA/GCCATG 2 -- int14Minor allele frequency- G:0.38EU EA WA 412
    rs37869831,2
    A,C,F,H1378260(+) ATATAC/TGGGGC 2 -- int18Minor allele frequency- T:0.17EU EA WA 838
    --
    rs65106061,2
    A,C,H1362326(+) cactcT/Cgggtc 2 -- int13Minor allele frequency- C:0.00EU EA 300
    rs2652711,2
    C,F,H1361493(+) ACGCGC/AGATCA 2 -- int18Minor allele frequency- A:0.08EA NA MN EU WA 666
    rs37869781,2
    C,F,H1364574(+) CTGAGC/TGGTAG 2 -- int113Minor allele frequency- N:0.00EA NA EU WA 2538
    rs72519371,2
    A,F,H1385135(+) GTCCAC/TGCTCC 2 -- int11Minor allele frequency- T:0.40WA 120
    About this table

    HapMap Linkage Disequilibrium images for DAZAP1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 607430

    1 Novoseek disease relationship for DAZAP1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    azoospermia 77.52 6 16772659 (1), 19285026 (1), 11604102 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/15 PubMed articles for DAZAP1 gene (see all 15 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 26528 HGNC: 2683 AceView: RPS15andDAZAP1 Ensembl:ENSG00000071626 euGenes: HUgn26528
    ECgene: DAZAP1 H-InvDB: DAZAP1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for DAZAP1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for DAZAP1 Antibodies for DAZAP1
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     Lentivirus-delivered shRNAs for DAZAP1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search Tocris compounds for DAZAP1




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