ASZ1: Ankyrin Repeat, SAM and Basic Leucine Zipper Domain Containing 1
A germ cell-specific gene implicated in spermatogenesis and potential tumor suppression.
Gene Information Card
| Symbol | ASZ1 |
|---|---|
| Full Name | Ankyrin Repeat, SAM and Basic Leucine Zipper Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.2 |
| NCBI Gene ID | 136991 ncbi.nlm.nih.gov/gene/136991 |
| Ensembl ID | ENSG00000146535 |
| UniProt ID | Q8WWH4 |
| OMIM ID | 608111 |
| HGNC ID | 15805 |
| Aliases | GASZ, CT5.1, ankyrin repeat, SAM and basic leucine zipper domain containing 1 |
Description
ASZ1 (Ankyrin Repeat, SAM and Basic Leucine Zipper Domain Containing 1) is a protein-coding gene located on chromosome 7q31.2. It encodes a germ cell-specific protein that contains ankyrin repeats, a sterile alpha motif (SAM), and a basic leucine zipper (bZIP) domain. ASZ1 is essential for spermatogenesis, particularly for the maintenance of germ cell survival and meiotic progression. It is also classified as a cancer/testis antigen (CT5.1) and has been implicated in tumor suppression, with evidence of epigenetic silencing in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Loss of ASZ1 function disrupts germ cell development and meiosis, leading to impaired spermatogenesis. | Mouse knockout models show male infertility with germ cell loss (PMID: 16916644). |
| Cancer (potential tumor suppressor) | Epigenetic silencing (promoter methylation) of ASZ1 is observed in multiple cancers, suggesting a role in tumor suppression. | COSMIC and TCGA data show reduced expression in tumors; methylation studies (PMID: 21573163). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 15.3 | High expression; germ cell-like |
| Seminoma cell lines | 12.1 | Moderate expression |
| HeLa (cervical carcinoma) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; unknown significance |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Rare variant; no functional data |
| Promoter hypermethylation | Epigenetic | Frequent in tumors | Silences gene expression; observed in breast, colon, and lung cancers |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., knockout in mice) cause germ cell apoptosis and male infertility. Epigenetic silencing in cancer also represents loss of function.
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)
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
| • spermatogenesis (GO:0007283) | • oogenesis (GO:0048477) |
| • DNA binding (GO:0003677) | • protein dimerization activity (GO:0046983) |
Pathways
• PI3K-Akt signaling pathway (Reactome: R-HSA-1257604)
• Meiotic recombination (Reactome: R-HSA-1500620)
Protein Summary
The ASZ1 protein (UniProt Q8WWH4) is a 657-amino acid nuclear protein predominantly expressed in testicular germ cells. It contains three ankyrin repeats, a SAM domain, and a bZIP domain, which mediate protein-protein interactions and DNA binding. ASZ1 localizes to the nucleus and is involved in transcriptional regulation during spermatogenesis. It interacts with PIWIL2 and other germ cell factors to suppress transposable elements and maintain genomic integrity. The protein is also recognized as a cancer/testis antigen, with expression reactivated in some tumors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASZ1 Knockout HEK293 Cell Line | EDJ-KQ9386 | Human | 136991 | Details Get a Quote |
| ASZ1 Knockout HeLa Cell Line | EDJ-KQ58370 | Human | 136991 | Details Get a Quote |
| ASZ1 Knockout A-549 Cell Line | EDJ-KQ66858 | Human | 136991 | Details Get a Quote |
| ASZ1 Knockout HCT 116 Cell Line | EDJ-KQ75262 | Human | 136991 | Details Get a Quote |
