DAZAP1 Gene
DAZ Associated Protein 1: RNA-binding protein in spermatogenesis and cancer
Gene Information Card
| Symbol | DAZAP1 |
|---|---|
| Full Name | DAZ Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 26528 ncbi.nlm.nih.gov/gene/26528 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q96EP5 |
| OMIM ID | 607635 |
| HGNC ID | 2683 |
| Aliases | DAZAP1, DAZAP, DAZ-associated protein 1, MGC: 26528 |
Description
DAZAP1 (DAZ Associated Protein 1) is a protein-coding gene located on chromosome 19p13.3. It encodes an RNA-binding protein that plays a critical role in spermatogenesis, mRNA processing, and translational regulation. DAZAP1 interacts with DAZ (Deleted in Azoospermia) proteins and is involved in male germ cell development. Mutations and altered expression of DAZAP1 have been implicated in male infertility and various cancers, including lung adenocarcinoma and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (non-obstructive azoospermia) | Loss of DAZAP1 disrupts DAZ protein interaction, impairing spermatogenesis | ClinVar, OMIM |
| Lung adenocarcinoma | Overexpression promotes cell proliferation and migration via RNA splicing regulation | COSMIC, PubMed |
| Colorectal cancer | Upregulation associated with poor prognosis; affects mRNA stability of oncogenes | COSMIC, PubMed |
| Breast cancer | Altered expression linked to tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lung | 6.2 | Medium |
| Colon | 5.8 | Medium |
| Breast | 4.1 | Medium |
| Liver | 3.9 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung adenocarcinoma) | 12.3 | High expression |
| HCT116 (colorectal carcinoma) | 10.7 | High expression |
| MCF7 (breast cancer) | 7.5 | Medium expression |
| HEK293 (embryonic kidney) | 5.2 | Medium expression |
| HeLa (cervical cancer) | 4.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon; likely loss of function |
| c.245C>T (p.Pro82Leu) | Missense | <0.1% | Unknown significance; reported in ClinVar |
| c.568G>A (p.Gly190Arg) | Missense | <0.1% | Unknown significance |
| c.742_743insA (p.Thr248Asnfs*3) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations (e.g., c.1A>G, c.742_743insA) are predicted to cause loss of DAZAP1 function, potentially impairing spermatogenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in DAZAP1.
Dominant Negative (DN)
No dominant-negative mutations described for DAZAP1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • poly(A) RNA binding (GO:0044822) | • nucleic acid binding (GO:0003676) |
| • regulation of translation (GO:0006417) | • spermatogenesis (GO:0007283) |
| • mRNA processing (GO:0006397) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Spermatogenesis (Reactome: R-HSA-72086)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Gene Expression (Reactome: R-HSA-74160)
• RNA Polymerase II Transcription (Reactome: R-HSA-73857)
Protein Summary
DAZAP1 is a 407-amino acid RNA-binding protein containing two N-terminal RNA recognition motifs (RRMs) and a C-terminal domain rich in proline and glutamine. It shuttles between the nucleus and cytoplasm, binding to poly(A) tails and specific mRNA targets to regulate splicing, stability, and translation. DAZAP1 is essential for male germ cell development, interacting with DAZ and DAZL proteins. In cancer, DAZAP1 overexpression enhances oncogenic mRNA splicing and promotes tumor cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAZAP1 Knockout HEK293 Cell Line | EDJ-KQ2631 | Human | 26528 | Details Get a Quote |
| DAZAP1 Knockout A-549 Cell Line | EDJ-KQ23380 | Human | 26528 | Details Get a Quote |
| DAZAP1 Knockout HCT 116 Cell Line | EDJ-KQ23381 | Human | 26528 | Details Get a Quote |
| DAZAP1 Knockout HeLa Cell Line | EDJ-KQ23382 | Human | 26528 | Details Get a Quote |
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