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DAZAP1 Gene

protein-coding   GIFtS: 57
GCID: GC19P001407

DAZ Associated Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
DAZ Associated Protein 11 2
Deleted In Azoospermia-Associated Protein 12 3
Deleted In Azoospermia Associated Protein 11
DAZ-Associated Protein 12

External Ids:    HGNC: 26831   Entrez Gene: 265282   Ensembl: ENSG000000716267   OMIM: 6074305   UniProtKB: Q96EP53   

Export aliases for DAZAP1 gene to outside databases

Previous GC identifers: GC19P001465 GC19P001347 GC19P001359 GC19P001360 GC19P001361 GC19P001170


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DAZAP1 Gene:
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, Jul 2008)

GeneCards Summary for DAZAP1 Gene:
DAZAP1 (DAZ associated protein 1) is a protein-coding gene. Diseases associated with DAZAP1 include azoospermia, and infertility. GO annotations related to this gene include RNA binding and RNA stem-loop binding. An important paralog of this gene is MSI2.

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) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DAZAP1 gene promoter:
         GR   GCNF   GR-beta   Evi-1   RORalpha1   HEN1   c-Myb   GR-alpha   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDAZAP1 promoter sequence
   Search Chromatin IP Primers for DAZAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DAZAP1


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

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)
DAZAP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P001407:  view genomic region     (about GC identifiers)

Start:
1,407,568 bp from pter      End:
1,435,719 bp from pter
Size:
28,152 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DAZP1_HUMAN, Q96EP5 (See protein sequence)
Recommended Name: DAZ-associated protein 1  
Size: 407 amino acids; 43383 Da
Subunit: Interacts with DAZ and DAZL
Sequence caution: Sequence=BAB71295.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for DAZAP1:
2DGS (3D)        2DH8 (3D)    
Secondary accessions: Q96MJ3 Q9NRR9
Alternative splicing: 2 isoforms:  Q96EP5-1   Q96EP5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DAZAP1: NX_Q96EP5

Explore proteomics data for DAZAP1 at MOPED

Post-translational modifications: 

  • Acetylation at Lys-150 is predominantly observed in the nuclear fraction, and may regulate nucleocytoplasmic
    transport1
  • Ubiquitination2 at Lys59, Lys150, Lys194
  • Modification sites at PhosphoSitePlus

  • See DAZAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000337132   ENSP00000233078   ENSP00000467680   ENSP00000467613   ENSP00000465433  
     ENSP00000468208  

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    Cloud-Clone Corp. Proteins for DAZAP1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    2 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q96EP5

    ProtoNet protein and cluster: Q96EP5

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

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


    DAZAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding TAS10857750
    GO:0035613RNA stem-loop binding IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    DAZAP1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Dazap1):
     cellular  endocrine/exocrine gland  growth/size/body  mortality/aging  normal 
     reproductive system 

    DAZAP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dazap1tm1.2Pyen for DAZAP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DAZAP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DAZAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DAZAP1

    miRNA
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    miRTarBase miRNAs that target DAZAP1:
    hsa-mir-222-3p (MIRT046606), hsa-mir-615-3p (MIRT039689), hsa-mir-193b-3p (MIRT041192), hsa-mir-185-5p (MIRT045357), hsa-mir-92a-3p (MIRT048966), hsa-mir-93-3p (MIRT038914)

    Block miRNA regulation of human, mouse, rat DAZAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DAZAP1 (see all 21):
    hsa-miR-320a hsa-miR-4272 hsa-miR-10b hsa-miR-219-5p hsa-miR-218 hsa-miR-508-3p hsa-miR-183* hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidDAZAP1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DAZAP1
    Predesigned siRNA for gene silencing in human, mouse, rat DAZAP1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): DAZAP1 (NM_170711)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DAZAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAZAP1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZAP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DAZP1_HUMAN, Q96EP5: Cytoplasm. Nucleus. 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    DAZAP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DAZAP1 About    
    See pathways by source

    SuperPathContained pathways About
    1mRNA surveillance pathway
    mRNA surveillance pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for DAZAP1):
        mRNA surveillance pathway


    DAZAP1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DAZAP1
    Interactions:

        GeneGlobe Interaction Network for DAZAP1

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

    Selected Interacting proteins for DAZAP1 (Q96EP53 ENSP000002330784) via UniProtKB, MINT, STRING, and/or I2D (see all 100)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITCHQ96J023, ENSP000003639984I2D: score=2 STRING: ENSP00000363998
    DAZ1Q9NQZ33, ENSP000003845734I2D: score=2 STRING: ENSP00000384573
    DAZLQ929043, ENSP000003823734I2D: score=2 STRING: ENSP00000382373
    MAP1LC3BQ9GZQ83, ENSP000002686074I2D: score=2 STRING: ENSP00000268607
    RAD52P433513, ENSP000003512844I2D: score=1 STRING: ENSP00000351284
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001893maternal placenta development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0008283cell proliferation IEA--
    GO:0030154cell differentiation IEA--

    DAZAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DAZAP1 (DAZP1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DAZAP1 gene (2 alternative transcripts): 
    NM_018959.3  NM_170711.2  

    Unigene Cluster for DAZAP1:

    DAZ associated protein 1
    Hs.222510  [show with all ESTs]
    Unigene Representative Sequence: AK124583
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000336761(uc002lsm.3) ENST00000233078(uc021umk.1 uc002lsn.3)
    ENST00000586579 ENST00000592522 ENST00000592453 ENST00000590419 ENST00000587833
    ENST00000589484 ENST00000585485 ENST00000587079 ENST00000589874 ENST00000591999

    miRNA
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    Block miRNA regulation of human, mouse, rat DAZAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DAZAP1 (see all 21):
    hsa-miR-320a hsa-miR-4272 hsa-miR-10b hsa-miR-219-5p hsa-miR-218 hsa-miR-508-3p hsa-miR-183* hsa-miR-24
    SwitchGear 3'UTR luciferase reporter plasmidDAZAP1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DAZAP1
    Predesigned siRNA for gene silencing in human, mouse, rat DAZAP1
    Clone
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    OriGene clones in human, mouse for DAZAP1 (see all 13)
    OriGene ORF clones in mouse, rat for DAZAP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DAZAP1 (NM_170711)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DAZAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DAZAP1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DAZAP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DAZAP1
      QuantiTect SYBR Green Assays in human, mouse, rat DAZAP1
      QuantiFast Probe-based Assays in human, mouse, rat DAZAP1

    Additional mRNA sequence: 

    AF181719.1 AK056850.1 AK124583.1 AK125032.1 AK128682.1 AL360261.1 BC012062.1 

    Selected DOTS entries (see all 30):

    DT.100690251  DT.100824328  DT.97859319  DT.97786432  DT.91862508  DT.121495017  DT.456067  DT.100824337 
    DT.100824333  DT.100824334  DT.40113747  DT.95201609  DT.121495005  DT.100824338  DT.121495034  DT.92034325 
    DT.92427967  DT.95111539  DT.95201593  DT.100824327  DT.100824331  DT.100824336  DT.121494932  DT.121495077 

    Selected AceView cDNA sequences (see all 1397):

    BM808742 F22216 AI863295 AI951393 AJ572381 BQ052499 BM680015 AI928061 
    BG142254 AI382564 CD107832 AI925625 AI630882 BF528347 AI708553 AI283030 
    BM507326 BG031724 H13378 AA295351 CR608914 AI290933 AI707933 BM910580 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DAZAP1 (see all 10)    About this scheme

    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:                          -     -     -                                         -                                                                     


    ECgene alternative splicing isoforms for DAZAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DAZAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAAGCCCC
    DAZAP1 Expression
    About this image


    DAZAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    DAZAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DAZAP1 Protein Expression

    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DAZAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for DAZAP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dazap15 DAZ associated protein 1   --   10 (39.72 cM) 80261486 
    chicken
    (Gallus gallus)
    Aves DAZAP16
    Gallus gallus DAZ associated protein 1 (DAZAP1), m...
    92(a)
    1 ↔ 1
    28(3071247-3095645)
    lizard
    (Anolis carolinensis)
    Reptilia DAZAP16
    DAZ associated protein 1
    99(a)
    1 ↔ 1
    GL344559.1(5687-24102)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY028920.12   -- 76.86(n)    AY028920.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dazap16
    DAZ associated protein 1
    74(a)
    1 ↔ 1
    11(5915124-5958303) ENSDARG00000070846
    fruit fly
    (Drosophila melanogaster)
    Insecta Hrb27C3 mRNA processing RNA binding 41(a)   27C4   --
    worm
    (Caenorhabditis elegans)
    Secernentea sqd-16
    H28G03.16
    Protein H28G03.1, isoform c
    27(a)
    21(a)
    many ↔ many
    many ↔ many
    IV(6324181-6326404) WBGene00022235
    X(5216363-5219012) WBGene00019249


    ENSEMBL Gene Tree for DAZAP1 (if available)
    TreeFam Gene Tree for DAZAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DAZAP1 gene
    MSI22  TARDBP2  MSI12  
    Selected SIMAP similar genes for DAZAP1 using alignment to 6 protein entries:     DAZP1_HUMAN (see all proteins) (see all similar genes):
    MEF2D/DAZAP1 fusion    RBMX    RBMY1A1    CIRBP    HNRPA1    RBM3
    SNRNP70    RBM38    HNRNPD    SLIRP    DAZAP1/MEF2D fusion    HNRNPA2B1
    D10S102    CELF1    HNRNPAB    MSI2    RBMS1    HNRNPA1L2

    DAZAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DAZAP1 (see all 722)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354804
    A breast cancer sample4--see VAR_0354802 S T mis40--------
    rs1151429181,2
    C,F--1334319(+) TCCCAA/GCTACT 2 -- us2k11Minor allele frequency- G:0.49WA 118
    rs1122482721,2
    C--1334348(+) GGATAG/CCTGGA 2 -- us2k12Minor allele frequency- C:0.13NA 122
    rs559992401,2
    --1334608(+) CTCCTC/GAGTAG 2 -- us2k10--------
    rs1915257671,2
    C--1334684(+) TCACCA/GTGTTA 2 -- us2k10--------
    rs1845927191,2
    --1334689(+) ATGTTA/GGCCAG 2 -- us2k10--------
    rs1395727161,2
    C--1334710(+) ATCTCC/TTGACC 2 -- us2k10--------
    rs1130798631,2
    C,F--1334931(+) CACCAC/AGCCCG 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1509814301,2
    --1334935(+) ACGCCC/TGGCTA 2 -- us2k10--------
    rs1396649211,2
    --1334965(+) GTAGAC/GACGGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for DAZAP1 (1407568 - 1435719 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DAZAP1 (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3589n71CNV Loss21882294
    nsv910292CNV Loss21882294
    nsv910499CNV Loss21882294
    nsv910489CNV Loss21882294
    dgv3595n71CNV Loss21882294
    dgv3555n71CNV Loss21882294
    nsv828377CNV Loss20364138
    nsv910494CNV Loss21882294
    dgv3596n71CNV Loss21882294
    dgv3588n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DAZAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for DAZAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607430    OMIM disorders: --

    14 diseases for DAZAP1:    
    About MalaCards
    azoospermia    infertility    cystinosis    lymphoblastic leukemia
    breast and colorectal cancer    tonsillitis    cerebritis    leukemia
    hiv-1    malaria    colorectal cancer    thyroiditis
    endotheliitis    prostatitis


    DAZAP1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for DAZAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    azoospermia 78.6 6 16772659 (1), 19285026 (1), 11604102 (1)

    Genetic Association Database (GAD): DAZAP1

    Export disorders for DAZAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DAZAP1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with DAZAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of two novel proteins that interact with germ-cell- specific RNA-binding proteins DAZ and DAZL1. (PubMed id 10857750)1, 2, 3 Tsui S.... Yen P.H. (Genomics 2000)
    2. Differential translation of Dazap1 transcripts during spermatogenesis. (PubMed id 23658607)1, 3 Yang C.K. and Yen P. (PLoS ONE 2013)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2004)
    5. Characterization of the mouse Dazap1 gene encoding an RNA-binding protein that interacts with infertility factors DAZ and DAZL. (PubMed id 11604102)1, 9 Dai T....Yen P.H. (BMC Genomics 2001)
    6. Expression patterns of the DAZ-associated protein DAZAP1 in rat and human ovaries. (PubMed id 16209998)1, 9 Pan H.A....Kuo P.L. (Fertil. Steril. 2005)
    7. Cloning and functional characterization of MEF2D/DAZAP1 and DAZAP1/MEF2D fusion proteins created by a variant t(1;19)(q23;p13.3) in acute lymphoblastic leukemia. (PubMed id 15744350)1, 9 Prima V.... Hunger S.P. (Leukemia 2005)
    8. DAZAP1 interacts via its RNA-recognition motifs with the C-termini of other RNA-binding proteins. (PubMed id 19285026)1, 9 Yang H.T....Rousseau S. (Biochem. Biophys. Res. Commun. 2009)
    9. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    10. A genome-wide association study for reading and language abilities in two population cohorts. (PubMed id 23738518)1 Luciano M....Bates T.C. (Genes Brain Behav. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26528 HGNC: 2683 AceView: RPS15andDAZAP1 Ensembl:ENSG00000071626 euGenes: HUgn26528
    ECgene: DAZAP1 Kegg: 26528 H-InvDB: DAZAP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DAZAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DAZAP1 gene:
    Search GeneIP for patents involving DAZAP1

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



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