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DAZ3 Gene

protein-coding   GIFtS: 38

GC0YM025319
deleted in azoospermia 3
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)
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Aliases
MGC126441 2
OTTHUMP00000042590 2
pDP1679 2
Descriptions
deleted in azoospermia 3 2
External Ids
HGNC: 159651
Entrez Gene: 570542
UniProtKB: Q9NR903
Ensembl: ENSG000001871917
Search outside databases for aliases for DAZ3 gene

Previous GC identifers: GC0YP026134 GC0YM026055 GC0YM024523 GC0YM025756 GC0YP024213 GC0YP023705 GC0YP023707 GC0YP023709 GC0YP023711

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

EntrezGene summary for DAZ3:
This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal
azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in
spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four
copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes
is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains
a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is
variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene
also contains a 10.8 kb region that may be amplified; this region includes five exons that encode
an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat.
[provided by RefSeq]

UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90
Function: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding
to the 3'-UTR of mRNAs and regulating their translation

Gene Wiki entry for DAZ3

(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the DAZ3 gene  

Entrez Gene cytogenetic band: Yq11.223   Ensembl cytogenetic band:  Yq11.223   HGNC cytogenetic band: Yq11.223

DAZ3 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 Y         GeneLoc Exon Structure

GeneLoc location for GC0YM025319:     (about GC identifiers)

Start:
25,318,604 bp from pter
End:
25,369,014 bp from pter
Size:
50,411 bases
Orientation:
minus strand
(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)
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UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90 (See protein sequence)
Recommended Name: Deleted in azoospermia protein 3  
Size: 486 amino acids; 54989 Da
Subunit: Forms a heterodimer with BOLL and DAZL. Interacts with PUM2, DAZAP1, DAZAP2, DZIP1 and
DZIP3
Subcellular location: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Nuclear at some stages of
spermatozoide development. Localizes both to the nuclei and cytoplasm of spermatozoide
differentiation. Nuclear in fetal gonocytes and in spermatogonial nuclei. It then relocates to the
cytoplasm during male meiosis
Miscellaneous: The DAZ proteins (DAZ, DAZ2, DAZ4 and DAZ4) are all encoded by a strongly repeated
region of the Y chromosome, in two clusters each comprising an inverted pair of DAZ genes. They
are very similar, which gives their indidual characterization difficult. Thus, most experiments do
not discriminate between the different members. One can therefore suppose that reported
interactions with a DAZ protein involve all the 4 proteins

REFSEQ proteins: NP_065097.2  

ENSEMBL proteins: 
ENSP00000383073 ENSP00000371793 ENSP00000371802 ENSP00000302355 ENSP00000324965 ENSP00000307537 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (DAZ3)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


Antibodies for DAZ3: 
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Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Monoclonal and Polyclonal Antibodies from Abnova (DAZ3)
Novus Biologicals Antibody for DAZ3

Assays for DAZ3: 
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  DAZ3 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9NR90

ProtoNet protein and cluster: Q9NR90

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

UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90
Domain: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2
Similarity: Belongs to the RRM DAZ family
Similarity: Contains 12 DAZ-like domains
Similarity: Contains 1 RRM (RNA recognition motif) domain

(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.)
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Inhib.
RNA:
Browse Invitrogen for RNAi
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (DAZ3)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020364

              Applied Biosystems Silencer® siRNAs for DAZ3

              Sigma-Aldrich siRNA for DAZ3  
                     Sigma-Aldrich shRNA for DAZ3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020364
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020364
                                 untagged cDNA clone in CMV expression vector: NM_020364 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_020364

UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90
Function: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding
to the 3'-UTR of mRNAs and regulating their translation

(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


  --
(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 DAZ3

(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:
Browse Invitrogen for RNAi
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (DAZ3)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020364

              Sigma-Aldrich siRNA for DAZ3  
                     Sigma-Aldrich shRNA for DAZ3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_020364  

REFSEQ mRNAs for DAZ3 gene: 

NM_020364.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_020364  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020364
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020364
                                 untagged cDNA clone in CMV expression vector: NM_020364 

16 AceView cDNA sequences:

U66077 BI561663 AA128463 AA136143 AF414184 AL705202 BG771514 NM_020364 
BI562231 AF248481 AA129915 AF248480 BC036648 AA136029 NM_020363 BG724038 

highest scoring ESTs for DAZ3:

AF248481 NM_020364 


GeneLoc Exon Structure

6 Ensembl transcripts including schematic representations:
ENST00000400212  ENST00000382356  ENST00000382365  ENST00000306944  ENST00000315357  ENST00000306737  
(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

DAZ3 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for DAZ3

1 / 2 / 3

13 probe-sets matching DAZ3 gene


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

40342_at2, 3 U95-A 5 1.00 0.24 1.00 1.00 U66077 0.40 0.10 0.29 3

207912_s_at2, 3 U133-A 4 1.00 0.25 -- -- NM_004081 0.20 0.08 0.15 2

208281_x_at2, 3 U133-A 5 1.00 0.24 -- -- NM_020364 0.40 0.42 0.41 1

207909_x_at2, 3 U133-A 5 1.00 0.24 -- -- U21663 0.40 0.12 0.30 2

208282_x_at2, 3 U133-A 5 1.00 0.23 -- -- NM_020363 0.20 0.08 0.15 2

216351_x_at2 U133-A 5 0.91 0.22 -- -- -- -- -- -- --

216922_x_at2, 3 U133-A 5 0.91 0.22 -- -- AF271088 0.20 0.06 0.15 2

207912_s_at2 U133Plus2 4 1.00 0.25 -- -- -- -- -- -- --

208281_x_at2 U133Plus2 5 1.00 0.24 -- -- -- -- -- -- --

207909_x_at2 U133Plus2 5 1.00 0.24 -- -- -- -- -- -- --

208282_x_at2 U133Plus2 5 1.00 0.23 -- -- -- -- -- -- --

216351_x_at2 U133Plus2 5 0.91 0.22 -- -- -- -- -- -- --

216922_x_at2 U133Plus2 5 0.91 0.22 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: --

UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90
Tissue specificity: Testis specific

(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 DAZ3 gene from 1 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
DAZ31   -- deleted in azoospermia 3 96.73(n)
93.38(a)
738636  XM_001138461.1  XP_001138461.1 
About this table        Species with no ortholog for DAZ3

ENSEMBL Gene Tree for DAZ3
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for DAZ3 gene
DAZL2  DAZ12  DAZ42  DAZ22  BOLL2  

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

UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90
Polymorphism: The number as well as the precise structure of the DAZ proteins probably differs
within the population

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

OMIM: 400027

UniProtKB/Swiss-Prot: DAZ3_HUMAN, Q9NR90
  • AZFc deletions in the Yq11.23 region, including the DAZ genes, are a cause of azoospermia
    or oligospermia. They lead to male infertility due to impaired spermatogenesis and are found 2-10%
    of azoospermic or severe oligospermic males
  • Human Genome Epidemiology Navigator: DAZ3 (1 document)

    (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

    10/28 PubMed articles for DAZ3 gene (see all 28 ):
    (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: 57054 HGNC: 15965 AceView: DAZ Ensembl:ENSG00000187191 euGenes: HUgn57054
    ECgene: DAZ3 H-InvDB: DAZ3
    (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 DAZ3:
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      Free SNP selection tool



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