OAZ3: Ornithine Decarboxylase Antizyme 3
A key regulator of polyamine synthesis in male germ cells
Gene Information Card
| Symbol | OAZ3 |
|---|---|
| Full Name | Ornithine Decarboxylase Antizyme 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 51686 ncbi.nlm.nih.gov/gene/51686 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9UMX2 |
| OMIM ID | 608544 |
| HGNC ID | 8098 |
| Aliases | AZ3, ODC-Az 3, antizyme 3 |
Description
OAZ3 encodes ornithine decarboxylase antizyme 3, a member of the antizyme family that negatively regulates ornithine decarboxylase (ODC) activity and polyamine transport. This protein is specifically expressed in male germ cells and plays a critical role in spermatogenesis by controlling polyamine levels. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | OAZ3 mutations may disrupt polyamine homeostasis, impairing sperm maturation and motility. | ClinVar; limited case reports |
| Prostate cancer | Altered OAZ3 expression may affect polyamine-dependent cell proliferation. | COSMIC; expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Prostate | 1.2 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 15.0 | High expression |
| PC-3 (prostate cancer) | 2.1 | Moderate expression |
| HeLa (cervical cancer) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.316C>T (p.Arg106*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.425G>A (p.Arg142Gln) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg106*) lead to truncated protein and loss of antizyme activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • enzyme inhibitor activity (GO:0004857) | • protein metabolic process (GO:0019538) |
| • polyamine biosynthetic process (GO:0006596) | • spermatogenesis (GO:0007283) |
Pathways
• Polyamine metabolism (Reactome: R-HSA-351202)
• Regulation of ornithine decarboxylase (ODC)
Protein Summary
OAZ3 encodes a 228-amino acid protein that binds to and inhibits ornithine decarboxylase (ODC), the rate-limiting enzyme in polyamine synthesis. It also promotes ODC degradation via the 26S proteasome without ubiquitination. The protein is testis-specific and essential for normal spermatogenesis. UniProt ID: Q9UMX2.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OAZ3 Knockout HEK293 Cell Line | EDJ-KQ11188 | Human | 51686 | Details Get a Quote |
| OAZ3 Knockout A-549 Cell Line | EDJ-KQ39232 | Human | 51686 | Details Get a Quote |
| OAZ3 Knockout HCT 116 Cell Line | EDJ-KQ39233 | Human | 51686 | Details Get a Quote |
| OAZ3 Knockout HeLa Cell Line | EDJ-KQ39234 | Human | 51686 | Details Get a Quote |
