TATDN1 (TatD DNase Domain Containing 1)
A putative deoxyribonuclease implicated in DNA repair and genomic stability, with emerging links to cancer susceptibility.
Gene Information Card
| Symbol | TATDN1 |
|---|---|
| Full Name | TatD DNase domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 83940 ncbi.nlm.nih.gov/gene/83940 |
| Ensembl ID | ENSG00000104805 |
| UniProt ID | Q6P1N0 |
| OMIM ID | Not available |
| HGNC ID | 24074 |
| Aliases | FLJ12529, MGC117215 |
Description
TATDN1 encodes a protein containing a TatD DNase domain, suggesting a role in DNA nuclease activity. It is localized to the nucleus and may participate in DNA repair processes, particularly in the base excision repair pathway. The gene is ubiquitously expressed, with higher levels in certain tissues. While not yet directly linked to a specific Mendelian disorder, alterations in TATDN1 expression have been observed in various cancers, indicating a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential involvement in DNA repair and genomic stability | Expression changes observed in tumor samples (COSMIC, literature). No direct germline mutation disease association reported. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Kidney | 8.9 | Low |
| Liver | 7.2 | Low |
| Brain | 6.5 | Low |
| Heart | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical carcinoma; moderate expression |
| A549 | 8.2 | Lung carcinoma; low expression |
| MCF7 | 7.9 | Breast carcinoma; low expression |
| K562 | 6.8 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Pro125Leu) | Missense | 0.001% (gnomAD) | Unknown; predicted benign |
| c.568A>G (p.Thr190Ala) | Missense | 0.002% (gnomAD) | Unknown; predicted benign |
| c.1021G>A (p.Val341Ile) | Missense | 0.001% (gnomAD) | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No definitive loss-of-function mutations reported in TATDN1. Knockdown studies suggest reduced DNA repair efficiency, but no pathogenic variants identified.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • deoxyribonuclease activity | • DNA binding |
| • nucleus | • DNA repair |
| • metal ion binding |
Pathways
• Base excision repair
• DNA damage response
Protein Summary
TATDN1 is a 343-amino acid protein with a TatD DNase domain. It exhibits magnesium-dependent DNase activity in vitro. The protein is localized to the nucleus and is involved in DNA repair, particularly in the processing of damaged bases. It may also play a role in apoptosis by degrading DNA. Structural studies suggest a TIM-barrel fold typical of the TatD family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TATDN1 Knockout HEK293 Cell Line | EDJ-KQ9942 | Human | 83940 | Details Get a Quote |
| TATDN1 Knockout HCT 116 Cell Line | EDJ-KQ35654 | Human | 83940 | Details Get a Quote |
| TATDN1 Knockout A-549 Cell Line | EDJ-KQ36845 | Human | 83940 | Details Get a Quote |
| TATDN1 Knockout HeLa Cell Line | EDJ-KQ36846 | Human | 83940 | Details Get a Quote |
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