ADAD1 Gene - Adenosine Deaminase Domain Containing 1
A testis-specific RNA-editing enzyme involved in spermatogenesis
Gene Information Card
| Symbol | ADAD1 |
|---|---|
| Full Name | Adenosine Deaminase Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 132612 ncbi.nlm.nih.gov/gene/132612 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q96M93 |
| OMIM ID | 612518 |
| HGNC ID | 24730 |
| Aliases | TENR, ADAD1L, ADAD1S |
Description
ADAD1 (Adenosine Deaminase Domain Containing 1) is a testis-specific gene encoding a protein with an adenosine deaminase domain. It is involved in RNA editing and is essential for normal spermatogenesis. The protein is localized to the cytoplasm of germ cells and is thought to deaminate adenosine to inosine in double-stranded RNA substrates, a process critical for male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss of ADAD1 disrupts RNA editing in testis, impairing germ cell development | Mouse knockout models show azoospermia; human association inferred from homology and expression studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.0 | Testicular germ cell tumor model |
| Embryonic stem cells (H1) | 0.1 | Low expression |
| HeLa | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Ter) | Nonsense | <0.01% (gnomAD) | Predicted loss of function; likely pathogenic for spermatogenic failure |
| c.742G>A (p.Gly248Arg) | Missense | <0.01% (gnomAD) | Uncertain significance; may affect RNA editing activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the adenosine deaminase domain are classified as loss-of-function and are associated with impaired spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ADAD1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ADAD1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003723 - RNA binding | • GO:0004000 - adenosine deaminase activity |
| • GO:0005634 - nucleus | • GO:0005737 - cytoplasm |
| • GO:0007283 - spermatogenesis | • GO:0016553 - base conversion or substitution editing |
Pathways
• RNA editing: C to U and A to I editing
• Spermatogenesis (gene expression and differentiation)
Protein Summary
The ADAD1 protein (UniProt Q96M93) is a 739-amino acid polypeptide containing an adenosine deaminase domain. It is predominantly expressed in the testis and localizes to the cytoplasm of spermatocytes and spermatids. The protein catalyzes the deamination of adenosine to inosine in double-stranded RNA, a modification that alters RNA structure and coding potential. This RNA editing activity is crucial for the proper progression of spermatogenesis. Structural studies indicate a conserved deaminase fold with a zinc-coordinating active site.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAD1 Knockout HEK293 Cell Line | EDJ-KQ9298 | Human | 132612 | Details Get a Quote |
| ADAD1 Knockout HeLa Cell Line | EDJ-KQ58314 | Human | 132612 | Details Get a Quote |
| ADAD1 Knockout A-549 Cell Line | EDJ-KQ66804 | Human | 132612 | Details Get a Quote |
| ADAD1 Knockout HCT 116 Cell Line | EDJ-KQ75204 | Human | 132612 | Details Get a Quote |
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