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Aliases & Descriptions for DAZ1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DAZ 2, 3 | | FLJ17175 2 | | SPGY 1, 2 |
| | | Descriptions |
|---|
| deleted in azoospermia 1, 2 | | deleted in azoospermia 1 2 |
|
| | Search outside databases for aliases for DAZ1 genePrevious GC identifers: GC0YP023708 GC0YP023710 GC0YP023712 |
Summaries for DAZ1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, Q9NQZ3Function: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translationGene Wiki entry for DAZ1 |
Genomic Location 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) About This Section
| 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: Yq11.223DAZ1 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
| Proteins for DAZ1
(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: Q9NQZ4REFSEQ proteins: NP_004072.3
ENSEMBL proteins: ENSP00000371950 ENSP00000305486 ENSP00000384573 ENSP00000302745
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for DAZ1: Assays for DAZ1: | Protein
Domains/ Families for DAZ1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q9NQZ3Domain: The DAZ-like repeats are essential and mediate the interaction with DAZAP1 and DAZAP2Similarity: Belongs to the RRM DAZ familySimilarity: Contains 9 DAZ-like domainsSimilarity: Contains 3 RRM (RNA recognition motif) domains | Gene Function for DAZ1
(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
|               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 
              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, Q9NQZ3Function: RNA-binding protein that plays an essential role in spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for DAZ1
(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 DAZ1 
5/10 Interacting proteins for DAZ1 (Q9NQZ31, 2 ENSP000003027453) via UniProtKB, MINT, and/or STRING (see all 10
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for DAZ1(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 Tocris compounds for DAZ1
|
Transcripts 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
|               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
|
Expression for DAZ1
(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 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, Q9NQZ3Tissue specificity: Testis specific |
Orthologs for DAZ1
(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 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
|
SNPs/Variants for DAZ1(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, Q9NQZ3Polymorphism: The number as well as the precise structure of the DAZ proteins probably differs within the population |
Disorders & Mutations for DAZ1
(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 oligozoospermia7 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)
|
Medical News for DAZ1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for DAZ1 (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
):- High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. (PubMed id 11870237)1, 3, 4, 6 Fernandes S.... Vogt P.H. (2002)
- Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. (PubMed id 10936047)1, 3, 4 Saxena R.... Page D.C. (2000)
- No partial DAZ deletions but frequent gene conversion events on the Y chromosome of fertile men. (PubMed id 16021857)1, 3, 6 Lepretre A.C....Bienvenu T. (2005)
- Copy number of DAZ genes in Slovenian and Bosnian general population. (PubMed id 15571102)1, 3, 6 Writzl K....Peterlin B. (2004)
- Identification of two novel proteins that interact with germ-cell- specific RNA-binding proteins DAZ and DAZL1. (PubMed id 10857750)1, 3, 4 Tsui S.... Yen P.H. (2000)
- [Important genetic etiology of infertile Chinese males: chromosome abnormality and deletion of DAZ gene copy in the AZFc region of Y chromosome] (PubMed id 16078663)1, 3, 6 Yang Y....Lin L. (2005)
- A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PubMed id 11390979)1, 3, 4 Xu E.Y.... Reijo Pera R.A. (2001)
- Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome. (PubMed id 11095434)1, 3, 4 Moro E.... Foresta C. (2000)
- Human Pumilio-2 is expressed in embryonic stem cells and germ cells and interacts with DAZ (Deleted in AZoospermia) and DAZ-like proteins. (PubMed id 12511597)1, 3, 4 Moore F.L....Pera R.A. (2003)
- DAZ family proteins exist throughout male germ cell development and transit from nucleus to cytoplasm at meiosis in humans and mice. (PubMed id 11058556)1, 3, 4 Reijo R.A.... Page D.C. (2000)
|
Search for DAZ1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing DAZ1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing DAZ1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DAZ1(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=DAZ1 |
|
| | | About This Section
| --
| Services for DAZ1(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
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 Products for DAZ1:

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