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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DAZ1
deleted in azoospermia 1
Chromosome Y · Yq11.223
NCBI Gene: 1617Ensembl: ENSG00000188120.16HGNC: HGNC:2682UniProt: A0A140VJH5
76PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmprotein-containing complexpositive regulation of translational initiationnucleusazoospermiapartial chromosome Y deletionspermatogenic failure 1spermatogenic failure 12
✦AI Summary

DAZ1 (deleted in azoospermia 1) is a Y chrY-encoded RNA-binding protein essential for spermatogenesis. Located in the AZFc region of Yq11.2, DAZ1 functions as a master translational regulator that interacts with PABPC1 through its DAZ repeat domain to control global translation of cell proliferation-related mRNAs 1. This interaction is critical for maintaining spermatogonia proliferation and enabling germ cell progression through meiosis to produce haploid gametes. DAZ1 expression is specifically active in testicular tissue through differential methylation of its promoter region—remaining unmethylated in sperm while methylated in somatic cells 2. Clinically, DAZ1 deletions are a significant risk factor for male infertility. Partial DAZ1/DAZ2 deletions are associated with azoospermia and oligozoospermia, with a 2.58-fold increased infertility risk overall 3, and account for approximately 8% of idiopathic oligozoospermia cases 4. Loss of DAZ1 results in defective proliferation of c-KIT-positive spermatogonia and spermatogenic failure 1. DAZ1 expression patterns in testicular biopsies can serve as molecular markers for predicting sperm retrieval success in azoospermic patients 5.

Sources cited
1
DAZ regulates translation of cell proliferation-related mRNAs through interaction with PABPC1 and is essential for spermatogonia maintenance
PMID: 38783578
2
DAZ1 gene promoter exhibits differential methylation between spermatic (unmethylated) and somatic cells (methylated)
PMID: 16372120
3
Partial DAZ1/DAZ2 deletion is significantly associated with male infertility risk (OR=2.58) and azoospermia/oligozoospermia
PMID: 26232607
4
DAZ1/DAZ2 deletions found in 8% of oligozoospermic patients but absent in fertile controls
PMID: 11870237
5
DAZ1 expression patterns can be used as molecular markers to predict sperm retrieval success in azoospermic patients
PMID: 26162009
Disease Associationsⓘ21
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 1Open Targets
0.08Suggestive
spermatogenic failure 12Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
spermatogenic failure 22Open Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
spermatogenic failure 54Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 3Open Targets
0.07Suggestive
spermatogenic failure 40Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
spermatogenic failure 76Open Targets
0.07Suggestive
spermatogenic failure 80Open Targets
0.07Suggestive
spermatogenic failure 47Open Targets
0.07Suggestive
spermatogenic failure 39Open Targets
0.07Suggestive
spermatogenic failure 10Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
Spermatogenic failure Y-linked 2UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DAZ4Shared pathway100%DAZ3Shared pathway100%PUM2Protein interaction98%DAZAP1Protein interaction95%BPY2Protein interaction95%DZIP1Protein interaction94%
Tissue Expression6 tissues
Liver
0%
Lung
0%
Heart
0%
Brain
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DAZ1DAZ4DAZ3PUM2DAZAP1BPY2DZIP1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NQZ3
View on AlphaFold ↗
RankingsWhere DAZ1 stands among ~20K protein-coding genes
  • #6,243of 20,598
    Most Researched76
Genes detectedDAZ1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The complete sequence of a human Y chromosome.
PMID: 37612512
Nature · 2023
1.00
2
Impact of partial DAZ1/2 deletion and partial DAZ3/4 deletion on male infertility.
PMID: 26232607
Gene · 2015
0.90
3
A differentially methylated region of the DAZ1 gene in spermatic and somatic cells.
PMID: 16372120
Asian J Androl · 2006
0.80
4
High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.
PMID: 11870237
Mol Hum Reprod · 2002
0.70
5
Transcriptome analysis of the cancer/testis genes, DAZ1, AURKC, and TEX101, in breast tumors and six breast cancer cell lines.
PMID: 25994570
Tumour Biol · 2015
0.60