DAZ1 Gene - Deleted in Azoospermia 1
Key regulator of spermatogenesis and male fertility
Gene Information Card
| Symbol | DAZ1 |
|---|---|
| Full Name | Deleted in Azoospermia 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Yq11.223 |
| NCBI Gene ID | 1617 ncbi.nlm.nih.gov/gene/1617 |
| Ensembl ID | ENSG00000170584 |
| UniProt ID | Q9NQZ8 |
| OMIM ID | 400003 |
| HGNC ID | 2683 |
| Aliases | DAZ, SPGY, DAZ1A, DAZ1B |
Description
DAZ1 (Deleted in Azoospermia 1) is a Y-chromosome gene encoding an RNA-binding protein critical for spermatogenesis. It belongs to the DAZ gene family, which includes DAZ2, DAZ3, and DAZ4, all located in the azoospermia factor c (AZFc) region. DAZ1 is expressed exclusively in the testis and is essential for germ cell development. Deletions of DAZ1 are a common genetic cause of male infertility, including azoospermia and severe oligospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility due to azoospermia | Deletion of DAZ1 disrupts spermatogenesis, leading to absence of sperm in semen. | OMIM 400003; ClinVar; multiple case-control studies |
| Male infertility due to oligospermia | Partial deletions or point mutations reduce DAZ1 function, impairing sperm production. | ClinVar; literature reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Other tissues | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (e.g., TCam-2) | 8.2 | Testicular germ cell tumor model |
| HEK293 | 0.0 | Non-germline control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Complete deletion of DAZ1 (AZFc deletion) | Deletion | Common in infertile men (up to 10% of azoospermia cases) | Loss of DAZ1 protein; spermatogenic arrest |
| Partial deletion (e.g., gr/gr deletion) | Deletion | Variable; increased risk of oligospermia | Reduced DAZ1 copy number; impaired spermatogenesis |
Mutation functional classification
Loss of Function (LOF)
Complete deletion of DAZ1 leads to loss of RNA-binding activity, causing spermatogenic failure and azoospermia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; DAZ1 is Y-linked and hemizygous in males.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA binding |
| • regulation of translation | • spermatogenesis |
| • germ cell development | • male gamete generation |
Pathways
• Spermatogenesis
• RNA metabolism in germ cells
Protein Summary
DAZ1 encodes an RNA-binding protein containing a DAZ repeat and an RRM (RNA recognition motif). It is expressed exclusively in the testis and is required for the progression of germ cells through meiosis. The protein binds to specific mRNAs involved in spermatogenesis, regulating their translation and stability. Loss of DAZ1 function due to Y-chromosome deletions is a major genetic cause of non-obstructive azoospermia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAZ1 Knockout HEK293 Cell Line | EDJ-KQ50228 | Human | 1617 | Details Get a Quote |
| DAZ1 Knockout HeLa Cell Line | EDJ-KQ53070 | Human | 1617 | Details Get a Quote |
| DAZ1 Knockout A-549 Cell Line | EDJ-KQ61535 | Human | 1617 | Details Get a Quote |
| DAZ1 Knockout HCT 116 Cell Line | EDJ-KQ70028 | Human | 1617 | Details Get a Quote |
