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DAZ1 Gene

protein-coding   GIFtS: 51

GC0YM023684
deleted in azoospermia 1
(Previous name: deleted in azoospermia )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: DAZ)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DAZ 2, 3
FLJ17175 2
SPGY 1, 2
Descriptions
deleted in azoospermia 1, 2
deleted in azoospermia 1 2
External Ids
HGNC: 26821
Entrez Gene: 16172
UniProtKB: Q9NQZ33
Ensembl: ENSG000001881207
Search outside databases for aliases for DAZ1 gene

Previous GC identifers: GC0YP023708 GC0YP023710 GC0YP023712

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for DAZ1:
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 three copies of the 10.8 kb repeat.
However, no transcripts containing three copies of the RRM domain have been described; thus the
RefSeq for this gene contains only two RRM domains. [provided by RefSeq]

UniProtKB/Swiss-Prot: DAZ1_HUMAN, Q9NQZ3
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 DAZ1

(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 DAZ1 gene  

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

DAZ1 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 GC0YM023684:     (about GC identifiers)

Start:
23,684,890 bp from pter
End:
23,754,629 bp from pter
Size:
69,740 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000024.8  NT_011903.12  
(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: DAZ1_HUMAN, Q9NQZ3 (See protein sequence)
Recommended Name: Deleted in azoospermia protein 1  
Size: 744 amino acids; 82764 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
Secondary accessions: Q9NQZ4

REFSEQ proteins: NP_004072.3  

ENSEMBL proteins: 
ENSP00000371950 ENSP00000305486 ENSP00000384573 ENSP00000302745 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (DAZ1)
Human Recombinant Proteins from Abnova (DAZ1)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
GO:0005737 cytoplasm IEA--
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Antibodies for DAZ1: 
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Antibodies from Abcam (DAZ1), each with their AbpromiseSM
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Novus Biologicals Antibodies for DAZ1

Assays for DAZ1: 
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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  DAZ1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9NQZ3

ProtoNet protein and cluster: Q9NQZ3

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

UniProtKB/Swiss-Prot: DAZ1_HUMAN, Q9NQZ3
Domain: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2
Similarity: Belongs to the RRM DAZ family
Similarity: Contains 9 DAZ-like domains
Similarity: Contains 3 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.)
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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 (DAZ1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004081

              Applied Biosystems Silencer® siRNAs for DAZ1

              Sigma-Aldrich siRNA for DAZ1  
                     Sigma-Aldrich shRNA for DAZ1  
                     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_004081
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004081
                                 untagged cDNA clone in CMV expression vector: NM_004081 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_004081

UniProtKB/Swiss-Prot: DAZ1_HUMAN, Q9NQZ3
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

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0003723 RNA binding IEA--
GO:0005515 protein binding IPI16001084
GO:0008494 translation activator activity IDA16001084
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.)
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 Gene Network CentralTM Interacting Genes and Proteins Network for  DAZ1 


5/10 Interacting proteins for DAZ1 (Q9NQZ31, 2 ENSP000003027453) via UniProtKB, MINT, and/or STRING (see all 10 )
InteractantInteraction Details
GeneCardExternal ID(s)
PUM2Q8TB721, 2EBI-997955, EBI-311190 MINT-61576 MINT-45963 MINT-61575 EBI-997955, EBI-311190 MINT-61576 MINT-45963 MINT-61575
BOLLQ8N9W61EBI-997955, EBI-998198
Pum2 Pum2 (xeno)Q80U581EBI-997955, EBI-998056
PUM2Q8TB721, 2EBI-997955, EBI-311190 MINT-61576 MINT-45963 MINT-61575 EBI-997955, EBI-311190 MINT-61576 MINT-45963 MINT-61575
DAZLENSP000002508633STRING (score=.958)
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4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007275 multicellular organismal development IEA--
GO:0007283 spermatogenesis IEA--
GO:0030154 cell differentiation IEA--
GO:0045948 positive regulation of translational initiation IDA16001084
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(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 DAZ1

(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 (DAZ1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004081

              Sigma-Aldrich siRNA for DAZ1  
                     Sigma-Aldrich shRNA for DAZ1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_004081  

REFSEQ mRNAs for DAZ1 gene: 

NM_004081.5   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_004081  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004081
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_004081
                                 untagged cDNA clone in CMV expression vector: NM_004081 

Additional cDNA sequence: 

AK310133.1 BC114927.1 

15 DOTS entries:

DT.120652058  DT.113441  DT.120653923  DT.120653918  DT.120651970  DT.95094557  DT.100751936  DT.101980951 
DT.91652055  DT.120653754  DT.100014718  DT.120652060  DT.120652050  DT.120653919  DT.95094558 

16 AceView cDNA sequences:

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

highest scoring ESTs for DAZ1:

BC114927 BG924471 DB070332 DB241787 XM_372296 NM_004081 U66077 DB063718 DB064548 DB066199 

Unigene Cluster for DAZ1:

Deleted in azoospermia 1
Hs.522868  [show with all ESTs]
Unigene Representative Sequence: NM_004081


GeneLoc Exon Structure

4 Ensembl transcripts including schematic representations:
ENST00000382510  ENST00000306922  ENST00000405239  ENST00000303652  
(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

DAZ1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for DAZ1

1 / 2 / 3

13 probe-sets matching DAZ1 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 0.80 0.50 0.67 1

216351_x_at2 U133-A 5 1.00 0.25 -- -- -- -- -- -- --

207912_s_at2, 3 U133-A 4 1.00 0.25 -- -- NM_004081 0.60 0.75 0.68 1

216922_x_at2, 3 U133-A 5 1.00 0.25 -- -- AF271088 0.20 0.06 0.15 2

208281_x_at2, 3 U133-A 5 1.00 0.24 -- -- NM_020364 0.20 0.08 0.15 2

207909_x_at2, 3 U133-A 5 1.00 0.24 -- -- U21663 0.60 0.38 0.50 1

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

216351_x_at2 U133Plus2 5 1.00 0.25 -- -- -- -- -- -- --

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

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

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.522868

UniProtKB/Swiss-Prot: DAZ1_HUMAN, Q9NQZ3
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 DAZ1 gene from 1 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
chimpanzee
(Pan troglodytes)
DAZ11   -- deleted in azoospermia 1 96.92(n)
92.89(a)
749905  XM_001172156.1  XP_001172156.1 
About this table        Species with no ortholog for DAZ1

ENSEMBL Gene Tree for DAZ1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for DAZ1 gene
DAZ41 2  DAZL2  DAZ32  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: DAZ1_HUMAN, Q9NQZ3
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, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 400003

UniProtKB/Swiss-Prot: DAZ1_HUMAN, Q9NQZ3
  • 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. Some AZFc deletions remove only the DAZ and DAZ2
    genes and cause severe oligozoospermia
  • 7 Novoseek disease relationships for DAZ1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    azoospermia 94.90 83 9695355 (4), 10469697 (3), 9239708 (3), 9557839 (3) (see all 51)
    oligozoospermia 92.77 25 16963411 (3), 9695355 (3), 9091344 (2), 9391878 (1) (see all 16)
    infertility male 89.18 21 9294855 (2), 9321470 (2), 16078663 (2), 10819768 (1) (see all 16)
    chromosome deletion 77.53 2 9391878 (1), 10402373 (1)
    infertility 67.50 7 16777954 (2), 11390979 (1), 9091344 (1), 16275261 (1) (see all 6)
    chromosomal aberrations 37.26 5 16078663 (2)
    cryptorchidism 25.79 1 15066457 (1)
    About this table

    GeneTests: DAZ1
    Y Chromosome Infertility

    Human Gene Mutation Database: DAZ1
    Genetic Association Database: DAZ1
    Human Genome Epidemiology Navigator: DAZ1 (11 documents)

    (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

    10/129 PubMed articles for DAZ1 gene (see all 129 ):
    (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)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 1617 HGNC: 2682 AceView: DAZ Ensembl:ENSG00000188120 euGenes: HUgn1617
    ECgene: DAZ1 H-InvDB: DAZ1
    (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

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=DAZ1
    (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 DAZ1:
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      Free SNP selection tool



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